Pediatric Neurofibromatosis Type 1 Disclosure: Paired Caregiver and Child Resources†#

Disclosing a genetic diagnosis to a child is challenging for parents and caregivers. They report the process to be “daunting,” “distressing” and “anxiety producing.” A previous study exploring parent experiences disclosing a diagnosis of neurofibromatosis type 1 (NF1) to a child revealed a need for resources to support caregivers during this process. Based on these research findings, a caregiver disclosure guide and paired children’s book to aid both caregivers and children was created in collaboration with genetic counselors, a genetics bibliotherapy expert, the Children’s Tumor Foundation, a child psychologist, caregivers of people with NF1, and an illustrator. The caregiver disclosure guide, titled Telling Your Child About NF1, is informed by previous research identifying understanding of illness and heredity according to Piaget’s developmental stages. Additionally, the perspectives of caregivers who have children with NF1 and research into disclosure guides about other genetic conditions enhanced the resource. The guide includes directions for disclosure preparation, advice on disclosure conversations, and important developmental milestone considerations. The children’s book, called Super Emerson, was created to support the NF1 disclosure process from a child’s perspective. The proven components of bibliotherapy, or the use of books to learn about or cope with a situation or condition, are implemented throughout. Research-backed genetic counseling specific bibliotherapy and specific concerns from caregivers of children with NF1 support creation. The book follows Emerson, a six-year-old with NF1 as they discuss communicating with adults and going to the doctor. The story highlights their superpowers, among other topics. The caregiver guide and children’s book were created as a pair to provide optimum disclosure support.  The goal is for these resources to not only provide aid to caregivers and children with NF1, but to also serve as a model for future disclosure resources for other genetic conditions.

Repository of Children’s Books to Facilitate Genetic Diagnosis Disclosure†

Bibliotherapy is the therapeutic use of books and stories to help someone understand, cope with, and learn from a situation or problem. This therapeutic approach's effectiveness has been proven in the medical field and genetic counseling practices. Research concluded that not only were children able to learn about their condition in a stress-free environment, but caregivers felt relieved and supported. With the goal of expanding the identified bibliotherapy benefits to other genetic conditions, a repository of currently available children’s books about genetic conditions was created. A review of children’s resources published between 2013-2023 was performed. Books were collected via Google, Amazon, and PubMed searches curated with help from an expert librarian. Measures such as utilizing an incognito browser and cutting off customization settings were taken to eliminate bias. Books were also directly contributed by genetic counselors. A scoping review protocol was modified from Arkey and O’Malley’s work, and Joanna Briggs Institute guidance to only include the most up-to-date and useful books in the final compilation. 491 books were reviewed independently by two investigators to determine if they fit the set inclusion criteria of (1) explaining or disclosing a genetic condition, (2) targeting children ages 0-17, (3) containing content that is written in English, (4) published in 2013 or later, and (4) meet the set definition of “book.” Ties were broken by a third investigator. 96 books met inclusion criteria spanning 53 conditions. A repository of the books was created and includes page number, who in the book has the genetic condition, estimated reading level, location of the book, and other descriptors. The University of Alabama at Birmingham’s Genetic Counseling research page houses the repository which is organized in alphabetical order by condition for searching ease. The list only includes books that have been published in English. Therefore, this list is not all inclusive. The books on this list have not been reviewed for medical accuracy. Inclusion on this list is not an endorsement by the authors of the resource for clinical use. This repository is freely available to genetic counselors to facilitate genetic condition disclosure and education. The goal is for this repository to provide book identification and support for genetic counselors and caregivers. The potential for continual updates allows for a collection of the most up to date resources.

Children’s Genetic Book Repository

User experience of a hereditary cancer risk assessment tool:  Evaluation of usability, satisfaction, trust, perceived credibility, and barriers†

The demand for hereditary cancer genetic counseling is higher than the available workforce. To address this, hereditary cancer risk assessment tools were developed to identify individuals eligible for genetic testing and increase clinic efficiency by prioritizing individuals at the highest risk and collecting necessary information for genetic risk assessment. However, there is limited information about the user experience of these risk assessment tools. This study explored the user experience of a validated hereditary cancer risk assessment tool. Patients referred to the University of Alabama at Birmingham Hereditary Cancer Clinic completed the tool prior to their genetic counseling appointment. They completed a survey assessing usability, trustworthiness and credibility, satisfaction, and barriers to tool completion though the Standardized User Experience Percentile Rank Questionnaire (SUPR-Q) and questions created by the research team. Descriptive statistics were reported for all questions, and associations between demographic factors and user experience variables were analyzed using Spearman’s correlation and Kruskal Wallis tests. 106/129 (82.2%) completed the tool, and 42/106 (39.6%) completed the research survey. Participants ranked usability 4.2/5, trust and credibility 4.19/5, loyalty 4.16/5, and appearance 4.05/5, with an overall SUPR-Q mean score of 4.15/5. Most participants (85%) reported no barriers to completing the tool, and the most reported barrier (9.3%) was not knowing how to answer questions about family history. Participants were satisfied with the risk assessment result (90%) and were able to understand it (90%). The majority (63.4%) reported the risk assessment result increased their desire to attend genetic counseling. Negative associations were identified between age and SUPR-Q score (p=0.001), preparedness to complete the tool (p=0.001), usability (p=0.007), comfort answering questions about personal (p=0.002) and family health (p=0.002) history, and satisfaction (p=0.011) and ability to understand (p=0.001) the risk assessment results. Overall, participants thought the tool was easy to use, trustworthy and credible, and they were satisfied with delivery of the tool and risk assessment results. Increased trust, which is influenced by usability, satisfaction, and credibility, increases compliance of health information. Patient compliance and expanded use of these tools could identify more individuals at risk of having a hereditary cancer syndrome, increasing clinic efficiency and allowing more high-risk patients to be seen.

Rate of completion of hereditary cancer risk assessment tool does not differ by age, race, ethnicity, or cancer history but does vary by insurance type and delivery method†

Background: Hereditary cancer risk assessment tools collect personal and family cancer history and determine if a patient meets criteria for genetic testing efficiently, automatically, and without provider burden. However, the use of digital tools is only beneficial if patients complete the tool.

Aim: We aimed to compare characteristics between individuals who do, and do not, complete the RISE Risk Assessment Module: Hereditary Cancer.

Methods: We performed a retrospective chart review of patients referred to UAB Cancer Genetics Oct. 1^st, 2022, to Sept. 12^th, 2023. To test associations between completion rates and continuous and categorical variables, the student’s t-test, and chi-squared test were used, respectively. A multiple logistic regression was conducted with tool completion as the dependent variable, and variables found to be significant in the bivariate analyses and key covariates as independent variables.

Results: Most patients (172/241, 71%) completed the digital tool, identified as female (83.0%), non-Hispanic (83.0%), and white (70.0%). Mean age was 45.2 (SD 14.2) and 53.3% of participants had a personal history of cancer. There was no association between completion rate and referral source, clinic association, age, sex, marital status, ethnicity, previous diagnosis of cancer, and having children. In bivariate analyses a higher completion rate was associated with distribution via text message (p=0.002), white race (p=0.003), private insurance (p <0.0001), no active cancer (p <0.0001), genetic testing being ordered (p <0.0001) and attending an appointment (p <0.0001). In multivariate analysis, only method of distribution, insurance type, and appointment attendance were significant. Patients who received the tool by text message had higher rates of completion than those who received it by email (adj-OR = 6.3; p=0.04). Individuals with private insurance (adj-OR = 3.4; p=0.004) or both private and public insurance (adj-OR = 8.8; p=0.05) were more likely to complete the tool. Those who attended their genetic counseling appointment also had higher rates of completion (adj-OR = 5.9; p<0.001).

Conclusion: The lack of association between tool completion and race, ethnicity, age, and cancer status, suggests the tool is acceptable to patients from differing backgrounds. Sending the tool by text and providing further support for those without private insurance may improve completion rates.

Whole exome sequencing in the impatient setting: diagnostic yield for infants with isolated and syndromic congenital heart defects†

Purpose: Exome sequencing (ES) has revolutionized the diagnostic capability for patients with congenital anomalies. However, chromosome microarray is the current standard of care for patients with congenital heart defects (CHDs). Utilizing the most effective genetic testing strategy is paramount for rapid, diagnosis-specific treatment.  From preliminary studies, the yield of ES for pediatric inpatient congenital heart defects appears to be between 20% and 50% compared to the 25% diagnostic yield of chromosome microarray.¹ This study aims to assess the yield of ES and characterize the clinical outcomes of pediatric inpatients with CHDs.

Methods: Retrospective chart review of 120 inpatients treated at Children’s Mercy Hospital over a 1-year period. Eligible patients were under 3 months of age with persistent CHDs requiring surgical intervention. Study data was collected and managed using the REDCap (Research Electronic Data Capture) tool. Chi-squared, Fisher’s Exact, Wilcoxon Rank Sum, and Logistic regression tests were utilized for statistical comparisons.

Results: ES provided a 28.6% postnatal diagnostic yield while chromosome microarray only had a 12.5% yield. There was no statistical significance between yield of ES and classification of heart defect. The likelihood of diagnosis increased by 50% with each additional extracardiac anomaly. Moreover, we found that if ≥3 body systems were involved, the odds of identifying a genetic diagnosis were 4.2 times higher. Overall, 39 patients received a diagnosis explaining their CHD and 7 patients received an incidental diagnosis. Additionally, 11 patients were identified as carriers of a genetic condition.

Conclusions: ES identified several diagnoses that would have been missed by microarray, indicating an increased utility of ES for patients with CHDs. Patients with isolated CHDs, varying classifications of CHDs, and multiple extracardiac anomalies received diagnoses through ES. Therefore, ES should be considered for all infants with CHDs. Future research may include long-term outcomes for patients with CHDs, surveys on inpatient genetics consultation, and updating the cardiac genotype/phenotype correlation for established conditions.

Cell-free DNA results of mosaic monosomy X of likely maternal origin: Impact on genetic counseling practice and patient experiences†$

Cell-free DNA (cfDNA) is the most sensitive and specific screening tool for detection of chromosomal aneuploidies in pregnancy. Because this screening is performed on a maternal blood sample, some platforms can detect secondary findings such as mosaic monosomy X of suspected maternal origin. Monosomy X, also known as Turner syndrome, can cause health concerns such as bicuspid aortic valve, horseshoe kidneys, premature ovarian failure, and more. With a mosaic monosomy X finding, symptoms can range from benign to severe depending on the tissues affected. As a result of this broad phenotypic spectrum, many patients may remain unaware of their mosaic monosomy X status. To better understand this cfDNA result, a mixed methods study was conducted. A total of 60 prenatal genetic counselors completed surveys about their experiences with this result, cfDNA consenting practices, and management practices. Results indicated 95% of genetic counselors feel confident counseling on these results. However, responses on current practices varied. Of the genetic counselors surveyed, 62% state their approach to management does not differ if the patient is symptomatic and 63% recommend fetal diagnostic testing. Responses indicated 95% of genetic counselors order a karyotype for maternal diagnostic testing, and 30% order a chromosomal microarray. No statistical differences were identified between the number of years practicing as a prenatal genetic counselor and their management of this result. To supplement the genetic counselor perspective, 5 patients were interviewed who received the cfDNA result of mosaic monosomy X of likely maternal origin. A qualitative, interpretive description study was conducted to gain insight into the patients’ experience with result disclosure and follow up care. Study findings indicated this result causes confusion, surprise, and worry. Based on these findings, we believe professional practices guidelines are needed to establish clear management recommendations, which in turn would hopefully decrease patient and provider stress.

The motivations and methods behind sharing a pediatric Prader-Willi syndrome (PWS) diagnosis†#

Prader-Willi syndrome (PWS) is a genetic condition typically characterized by hypotonia and failure to thrive in infancy, followed by hyperphagia, behavioral challenges, and a varying degree of intellectual disability throughout the lifespan. Once a diagnosis of PWS is established, sharing information about the diagnosis with the affected child can be challenging due to its early age of onset, variability, and cognitive phenotype. While there is literature addressing the challenges of disclosing genetic conditions to children, no research that is specific to PWS exists. This mixed-methods study aims to evaluate how parents and guardians have shared information about a PWS diagnosis with their child and to examine their motivations and influencing factors behind sharing or not sharing diagnosis information. Parents and guardians of children aged at least 5 years with a diagnosis of PWS completed a survey and interview invitations were offered to a subset of parents who fully disclosed, partially disclosed, or did not disclose the PWS diagnosis to their child. A total of 51 surveys and 15 interviews were completed. The majority of parents and guardians (90%) shared their child’s health differences or symptoms with them to some extent. Parents were more likely to disclose if their child was older (p=0.02), had at least 1 sibling (p=0.046), and if the parent felt more knowledgeable about PWS (p=0.004). Interview themes demonstrated that parents had some similar motivations for disclosure, including a desire to be honest with their child, wanting to explain their child’s symptoms, and promoting advocacy and empowerment for their child. Parents’ disclosure conversations were influenced by their child’s cognition, child’s questions, and events and connections within the PWS community. Interview themes also delineated methods for disclosure including using multiple conversations over time, acting as a unified team, using matter-of-fact language, normalizing to others, talking on the way to healthcare appointments, and using encouraging and age-appropriate phrases. Experiences with disclosure were also described through three themes: The diagnosis being characterized as “just a part of life,” parental self-doubt and anxiety, and the child’s response to disclosure. This research compiles parents’ motivations for disclosure, overall strategies, and experiences, providing information and validation for others considering disclosure of PWS or other rare genetic diagnoses to their affected child.

Notation: Moy, V. F., Denton, J. J., Bohonowych, J. E., & Strong, T. V. (2024). The motivations and methods behind sharing a pediatric Prader–Willi syndrome diagnosis. American Journal of Medical Genetics Part A, e63794. https://doi.org/10.1002/ajmg.a.63794

Educational intervention increases pre-test genetic counseling provided by pediatric neurology providers in Alabama†

The utilization of genetic testing extends beyond the genetics clinic. Due to the current shortage of genetics providers, subspecialty providers are implementing genetic testing and education themselves. Pre-test genetic counseling is recommended for all patients receiving genetic testing, but it is unclear what is consistently provided to patients in the subspecialty setting. This study explored the pre-test genetic counseling being provided in the pediatric neurology subspecialty and how an educational intervention could improve what was currently offered. Thirty-four pediatric neurology providers in the state of Alabama were invited to participate in an educational session as well as a series of three surveys to assess current practice, anticipated change in practice after the session, and actualized change in practice three months following the intervention. Twenty-six providers participated in the study. Following the third survey, all participants reported compliance in providing pre-test genetic counseling for their patients. The 16 participants who completed the first and third surveys exhibited an increasing trend in the number of topics they include in pre-test genetic counseling discussions. There was not a statistically significant difference in the amount of time spent on pre-test genetic counseling indicating that providers are able to accomplish a more thorough education without hindering the allotted time for a session. Similarly, this intervention elicited a statistically significant improvement in participant confidence providing pre-test genetic counseling, suggesting that further implementation with subspecialty providers can improve the genetic education being provided. Further research can apply this methodology to broader cohorts in a variety of subspecialties to maximize the impact of educational intervention to improve pre-test genetic counseling.

Prenatal genetic counseling challenges with intermediate SMA results†

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular condition with complex genetic etiology. About 95% of individuals affected with this condition have a homozygous deletion of the SMN1 gene. One scenario that complicates risk is when a parent is identified as a possible silent carrier, meaning they have a [2+0] chromosome configuration. This configuration occurs when an individual has two copies of the SMN1 gene on one chromosome and no copies on the other chromosome. It is thought that 3.8-4.0% of the general population is a [2+0] carrier with a higher prevalence in African American and Hispanic populations. The [2+0] configuration makes it more difficult to calculate residual risk because testing cannot determine the difference between [2+0] carriers and [1+1] non-carriers, leading to indeterminate SMA carrier screening results. SMA was added to general population carrier screening in 2017, leading to an increase in the number of patients identified to have indeterminate results. Previous research has not examined how this addition has affected counseling practices involving indeterminate results. The purpose of this research was to gain a better understanding of the practices and challenges in this area, specifically within non-AJ populations. This study analyzed survey responses from 49 prenatal genetic counselors from the United States and Canada and found that genetic counselors face similar challenges when counseling indeterminate SMA results across all regions. These include negative patient emotions and both patient and referring provider misunderstanding, as highlighted in the qualitative data. Three major themes emerged including challenges with patients (1), challenges with referring providers (2), and the effects of the 2017 addition to general population carrier screening (3). This study highlights the need for provider education surrounding indeterminate SMA results, the development of a visual aid, and future research from the patient and referring provider perspective.

Pharmacogenomics for Prader-Willi Syndrome: Caregiver Interest and Planned Utilization †#

Background: Pharmacogenomics (PGx), the analysis of how an individual’s genetic variants impact gene-drug interactions, can be utilized to maximize drug efficacy, minimize adverse drug reactions, and reduce the lengthy trial and error process. One subpopulation who could potentially benefit from PGx are individuals with Prader-Willi syndrome (PWS). PWS is a rare, multisystemic genetic condition which can require multiple drugs for medical and behavioral management, with some individuals taking 10 or more drugs. Multiple drugs can increase the chances of adverse drug reactions. Individuals with PWS often require lifelong supervision by caregivers who aid in medical decision making. This study aimed to determine caregiver interest and planned utilization of pharmacogenomic (PGx) results for the person with PWS in their care.

Methods: In a larger study, caregivers of individuals with PWS recruited from the Foundation for Prader-Willi Research and the Global PWS Registry elected to participate in whole genome sequencing and consented to receive PGx testing. In this study, those caregivers completed an online survey assessing interest, planned utilization, and demographics prior to receiving PGx results.

Results: A total of 48 caregivers completed the survey. In the study, individuals with PWS took seven or more drugs (53.2%) and among those taking drugs, most required at least one drug or dosage change in the past two years (74.5%). The majority of caregivers were highly interested (93.8%) in their child’s PGx results, especially for drugs for behavior (89.6%). Caregivers ranked the most important outcome as drug effectiveness for current or future management (47.9%). Most planned to share results with their child’s medical providers (97.9%). However, while most caregivers felt comfortable discussing the report with providers (83.3%), they were less confident their providers would utilize the PGx results (47.9%).

Conclusion: Caregivers are interested in utilizing PGx but are uncertain that providers will use these results in their child’s clinical care. More information about provider comfort with PGx utilization is needed to understand how PGx education would benefit providers and ultimately patients with PGx results.

https://doi.org/10.2217/pgs-2023-0189

A Review of an Ehlers Danlos Syndrome Clinic: Clinical Outcomes and Patient Satisfaction †

Hypermobile Ehlers Danlos syndrome (hEDS) is a multisystemic connective tissue condition with symptoms that overlap with other hypermobility spectrum diagnoses, complicating both diagnostic process and subsequent patient care. A role for clinics specializing in hEDS could be delineating hEDS from other hypermobility spectrum conditions in order to appropriately diagnose and provide care recommendations for patients. This study aimed to describe the University of Alabama at Birmingham (UAB) EDS Clinic by using a retrospective review to characterize referral patterns and diagnostic outcomes as well as a prospective satisfaction survey for current patients attending the clinic. A retrospective review of 158 patient charts found that patients were more likely to be referred to the UAB EDS Clinic by family physicians (n=44, 28%), rheumatologists (n=33, 21%), and internists (n=24, 15%) than other providers. Patients were also more likely to be diagnosed with hypermobility syndrome (n=52, 32%) rather than hEDS (n=21, 14%). Of the patients diagnosed with hEDS (n=21), 24% were referred by family physicians, 19% were referred by rheumatologists, and 19% were referred by internists. Genetic testing was ordered for 33 patients (20%), 75% of which returned negative results. Genetic testing changed the diagnostic outcome for three patients that tested positive, two for other EDS subtypes and one for Loeys-Dietz syndrome. Patients diagnosed with hEDS had an average of eight comorbid diagnoses. These included rheumatoid arthritis (n=11, 52%), pain in various joints (n=8, 38%), and postural orthostatic tachycardia syndrome (n=8, 38%). The patient satisfaction survey had a completion rate of 33%. Overall, patients felt their concerns were taken seriously by the healthcare team (95%) and were satisfied with the care they received (86%). This study was able to provide information about the UAB EDS Clinic framework and patient population, which could be used to improve the patient referral process and assist in establishing hEDS diagnostic expectations for patients and providers.

An Evaluation of a Novel Virtual, Case-based Shadowing Experience for Prospective Genetic Counseling Student ^ 

Introduction: According to the Association of Genetic Counseling Program Directors, shadowing a genetic counselor is strongly recommended for prospective applicants. Shadowing allows prospective students to appreciate provider/patient interactions, learn more about specific areas of the field, and determine if a career is a good fit. Previous studies have outlined many barriers to shadowing, including a limited number of clinical genetic counselors, socioeconomic disadvantages among certain applicant populations, and visitor-restriction policies. Virtual, self-paced shadowing opportunities could reduce these barriers, but limited information is available concerning the utility of such experiences for prospective genetic counseling students.

Purpose: This research aimed to design and evaluate a virtual, simulated and self-paced shadowing experience for prospective genetic counseling students.

Methods: Four case modules were created and hosted in an online learning channel. Cases included two pediatric and two prenatal indications with varying complexity. Knowledge and reflection questions were included throughout each module. Each module included patient facing and non-patient facing roles of a genetic counselor and followed a patient from pre-test through their post-test counseling sessions. Participants were recruited from the GC Chat Discord© server and had to have, completed one or more case modules. Participants completed a pre-survey, a post-module survey for each module, and a final survey evaluating the case series overall. Module surveys assessed participants’ perceived increase in understanding of the genetic counseling process, the highlighted case indication, and roles of a genetic counselor. Quantitative responses were analyzed using descriptive statistics. Investigators performed deductive analysis of qualitative survey responses.

Results: Participants (n=43) identified as female (93.0%) and approximately half self-reported white ethnicity (55.8%). Many participants (49%) had prior shadowing experiences that were attended either in person or virtually. Mean scores on a Likert scale for each case module showed prospective students increased their understanding of the genetic counseling process (2.71/3), highlighted case indications (2.59/3), and the genetic counselor’s role in patient care (2.58/3). Participants noted the demonstration of non-patient facing roles, including collaborating with a medical geneticist, offered a unique perspective outside of traditional shadowing.

Conclusion: These results demonstrate the potential value of simulated, self-paced virtual shadowing experiences for prospective students to increase their genetic counseling exposure.

Genetics education for non-genetics healthcare providers: a scoping six year review

Due to the workforce shortage of genetics professionals, non-genetics healthcare providers (NGHPs) are increasingly ordering genetic testing and providing counseling about the results. NGHPs have long expressed need for continuing education to fill gaps in their genetic knowledge. The objective of this scoping review was to identify genetics education resources, specifically for post-graduate practicing providers, over the last six years and analyze the gaps in available resources for NGHPs. Relevant studies were identified by searching electronic databases of published literature and a variety of gray literature sources. Thirty-three studies published between January 2017 and December 2022 were included. Resources were most commonly intended for all types of health professionals (n=19), practicing in any specialty (n=13) and were accessible virtually (n=22). Resources were identified for nurses (n=8), pharmacists (n=4), and physicians (n=3). However, there was a lack of resources targeted for other non-genetics healthcare providers that are likely to engage with individuals and families impacted by a genetic condition, such as dentists, physical therapists, occupational therapists, psychiatrists, and psychologists. The most common medical specialties of resources were pharmacogenetics (n=10), general genetics (n=10), and oncogenetics (n=9). Although these areas of genetics are covered more frequently, there is still room for expansion; oncogenetics education needs to expand outside of female cancers, and pharmacogenetics resources for providers outside of pharmacists is needed. Resources dedicated entirely to genetics education in cardiology, ophthalmology, metabolics, and nephrology were scarce (n=1). No genetics resources were identified that covered neurology, hematology, or preimplantation genetics. As genetics continues to expand into different medical specialties, genetics education resources in cardiology, ophthalmology, metabolics, nephrology, neurology, hematology, and preimplantation genetics are vital for informing non-genetics providers about clinical applications of genetics. This review provides an updated compilation of genetics educational resources for NGHPs. We identified opportunities for genetics education to grow amongst different specialties and professions, and we provided suggestions for making an education resource successful.

Turner Syndrome Caregivers: A Supportive Care Needs Assessment †

Providing comprehensive care requires that health professionals address medical indications and the expressed needs of patients and caregivers. Self-reported care requirements are known as supportive care needs (SCNs) and fulfilling these expressed needs has been shown to improve patients’ quality of life. In the rare disease community, individuals’ SCNs are rooted primarily in the low prevalence of their specific condition. Despite their irrefutably crucial role, there is a persistent deficit in knowledge of the SCNs of caregivers in this community. This study aimed to quantitatively describe the SCNs of caregivers of children with Turner syndrome (TS), a relatively prevalent and well described rare disease which requires significant caregiver involvement. Additionally, we aimed to identify features of a child’s TS diagnosis that impact the needs of their caregiver. To assess TS caregivers’ SCNs, a modified version of the validated Parental Needs Scale for Rare Diseases was distributed to via the Turner Syndrome Research Registry (TSRR), the Turner Syndrome Society of the United States (TSSUS), clinics at the University of Alabama at Birmingham, and Facebook TS support groups. A total of 97 eligible responses were received, primarily from the TSRR and TSSUS. TS caregivers reported some level of unmet SCNs across five domains: understanding the diagnosis, working with health professionals, emotional issues, financial needs, and working with educators. Most commonly, caregivers reported financial needs (42%, n = 21) and over a quarter (26%, n = 25) cited a need for financial advising services. Some caregivers reported dissatisfaction in working with health professionals (36%, n = 35), mainly with how much health professionals know about TS (33%, n = 32). Compared to other rare disease parents, TS caregivers reported lower levels of unmet SCNs in understanding the diagnosis and working with health professionals (p < 0.01). These findings indicate that TS caregivers have unique SCNs, rooted primarily in affording care and satisfaction with providers’ knowledge of TS. Given this, medical institutions and advocacy groups should provide TS caregivers with resources for financial support and there should be efforts to improve provider knowledge of TS. Considering that certain features of a TS diagnosis impact caregiver needs, there is potential to proactively provide supportive resources to TS caregivers.

Adherence to Huntington’s Disease Pre-Symptomatic Genetic Testing Guidelines

Huntington’s Disease (HD) is an autosomal dominant, neurological disorder caused by a CAG trinucleotide repeat expansion in the HTT gene. Symptoms present in three areas: motor, cognitive, and psychiatric. There is no cure for HD, but individuals with a positive genetic test result may qualify for clinical trials. Pre-symptomatic genetic testing guidelines for HD were most recently amended by the Huntington's Disease Society of America (HDSA) in 2015. The guidelines outline best clinical practices for testing individuals at risk based on family history for HD by providing critical support no matter the outcome of the test. The HDSA annually certifies Centers of Excellence (COE's) across the United States. Each COE is a multidisciplinary clinic that offers pre-symptomatic genetic testing for HD. In this study we assessed the adherence of the HDSA COE's to the 2015 guidelines across 11 designated components. The self-reported genetic testing protocols of 55 HDSA COE's were analyzed to assess overall and component specific adherence. Overall protocol adherence was 52.2%. For the 11 specified guideline components, 10.1% were unmet and 37.7% of the time data was unclear. Level one and two centers had higher levels of adherence than level three centers. Demonstrating the more resources at a center’s disposal may lead to increased adherence. Genetic counseling and initial contact by telephone components had the highest adherence at 78.2% and 74.5%, respectively. The highest area of nonadherence were components relating to telemedicine (3 and 4) with an average of 40.9%. Telemedicine is utilized frequently at COE’s to continue to provide care for patients that may be at risk for HD despite current guidelines outlining an in-person model. Genetic counselors are part of COE staff frequently but for centers without a genetic counselor the quality of the genetic counseling discussion remains unclear. Some centers may have difficulty onboarding a genetic counselor due to the shortage of genetic counselors in the field. This study demonstrated that centers frequently follow the HDSA guidelines but utilize telemedicine despite recommendations. The pre-symptomatic testing guidelines should match the practices of expert clinician in the area and incorporate telemedicine in future amendments.

Industry Genetic Counselor Workforce Skills: Current Assessment of Non-clinical Genetic Counseling †

Introduction: Given the rapid growth industry genetic counseling has experienced in recent years, there is a need to re-examine the current workforce requirements of industry jobs. Non-traditional genetic counselors utilize a variety of skills in addition to those taught during genetic counseling training, however specific skills used in non-patient facing industry roles and the training methods utilized to learn them have not been well-characterized.

Purpose: The purpose of this study was to delineate skills used in different sectors of industry genetic counseling by measuring associations between job type and the skills required in the workplace.

Methods: An anonymous survey designed to assess the skills used in industry positions was distributed to industry genetic counselors (GCs) (n = 113) via the NSGC Student Research Survey E-blast. Respondents were categorized by job title into non-laboratory industry GCs (65%) and laboratory-based industry GCs (35%). Statistical associations between groups and workforce skills were calculated using Fisher’s Exact test. 

Results: Non-laboratory industry GCs were more likely to use skills related to sales/marketing (p = < 0.001), business/entrepreneurship (p = < 0.001), creation of educational materials (p = < 0.001), research (test utilization [p = 0.006], test development [p = 0.011], research design [p = 0.047], research management [p ₌ 0.018]), and recruiting new employees (p = 0.034). Conversely, laboratory-based industry GCs were more likely to perform skills such as variant interpretation (p = < 0.001) and report writing (p = < 0.001). Data trends also demonstrate that recent graduates from GC programs receive more training for clinical-laboratory crossover skills than those who graduated >5 years ago, which could allow recent graduates to transition into industry roles more easily. However, respondents indicated that skills used by non-laboratory industry GCs (tasks related to personnel management, research, sales/marketing, media writing, and business/entrepreneurship) were overwhelmingly self-taught, indicating an educational gap in genetic counseling training for non-laboratory industry positions.

Conclusions: These findings provide the most up-to-date insight into the workplace requirements of industry genetic counseling and could aid the development of non-traditional educational opportunities for individuals interested in industry positions. The data also highlights the increasingly diverse roles occupied by GCs in non-laboratory industry positions and the expansion of genetic counseling roles in industry.

Concurrent use of digital health tools with point-of-care testing improves access to germline genetic testing within a multidisciplinary gastrointestinal cancer clinic ^

Background: Germline cancer genetic testing could impact the treatment and screening of cancers for patients and their family members; however, many patients who qualify for testing do not get offered such testing. Individually, digital health tools (DHTs) and point-of-care (POC) genetic testing have improved cancer genetic testing access; however, little research has explored these tools regarding improving access to genetic testing in colorectal cancer clinics. 

Aim: To assess whether DHT facilitated POC genetic testing improves identification of patients for genetic evaluation and genetic testing uptake in a multidisciplinary gastrointestinal cancer clinic.

Methods:  Before and after study design.  Outcomes included the proportion of patients identified for genetic evaluation and consented to genetic testing. In the before group, patients were identified for genetic evaluation by physicians and referred to a genetic counseling clinic to access testing. In the after group, identification and consenting were supported by DHTs, which were administered by genetic counseling assistants, and genetic testing was ordered without referral to a genetic counseling clinic (POC). Data was collected via chart review. 

Results: Patients were female (51.8%) with an average age of 61.1 (SD=12.2), white (58.8%) or African-American (39.2%), and non-hispanic/latino (98.0%). In the before group, 6/24 (25%) patients were identified by their care team for genetic evaluation compared to  17/32 (53.1%) patients who were identified by the DHT in the after group (p = 0.03). DHT completion rate was 59.3% (19/32). In the before group, 0/24 (0%) patients consented for genetic testing compared to, 8/32 (25%) in the after group (p= 0.02). 

Conclusion: The use of DHTs and a POC genetic testing model improves access to genetic testing within a multidisciplinary gastrointestinal cancer clinic. 

Parents’ Perspectives on Disclosing Pediatric Neurofibromatosis Type 1 Diagnosis #

Neurofibromatosis 1 (NF1) is a common genetic disorder typically diagnosed in childhood and characterized by cutaneous findings, nerve sheath tumors, skeletal abnormalities, malignancies, and developmental differences. Due to its variability, NF1 is an unpredictable condition that parents have concerns about discussing with their children. While there are publications addressing disclosure of genetic conditions in general, no NF1 specific disclosure literature exists.

To fill this gap, this mixed methods study sought to evaluate the concerns, barriers, failures, or successes parents or guardians have experienced when they have or have not chosen to tell their child(ren) about an NF1 diagnosis. Parents of children between ages 0-17 with a diagnosis of NF1 completed a survey with some respondents selected for an interview invitation. A total of 258 surveys were completed, and 20 parents were interviewed. Interview transcripts were categorized into disclosure and non-disclosure groups. Themes were organized into five categories based on interview questions: disclosure concerns, factors affecting the decision to disclose, approaches to disclosure, desired resources, and recommendations for disclosure. Sentiment analysis was performed on responses about the disclosure discussion itself. Results indicated that most parents (70.5%) disclosed the NF1 diagnosis to their child and overall felt it was a positive experience. Almost one-third of parents (29.5%) had not disclosed the diagnosis. A strong significance was identified between disclosure and severe presentation of NF1 (p=0.0008). Parents in both groups shared similar concerns about discussing the diagnosis and multiple factors influenced the disclosure decision. Most parents approached disclosure as a process and emphasized the need to be honest and supportive of their child. Parents highlighted the need for more educational resources for children and guidance on how to disclose. These findings indicate that additional resources and support for parents would facilitate disclosure and the involvement of genetic counselors in the process would be beneficial.

Genetic Counseling as a Method to Prevent Type 2 Diabetes in At-Risk Children$

Background: The prevalence of type 2 diabetes in children is dramatically increasing. Most children diagnosed with type 2 diabetes have a family history of diabetes, but few studies have evaluated parental perceptions of their child’s risk to develop type 2 diabetes or their knowledge of strategies to prevent type 2 diabetes in their children. Genetic counselors are effective in providing information to parents about risk for their children to develop hereditary conditions and counseling on management guidelines. However, the utility of genetic counseling for parents whose children are at risk for multifactorial conditions such as type 2 diabetes is yet to be determined.

Objective: This study aimed to evaluate whether genetic counseling for parents with type 2 diabetes impacted perception of their child’s type 2 diabetes risk and knowledge of type 2 diabetes prevention strategies.

Methods: A prospective, cross-sectional study was implemented to recruit participants with type 2 diabetes who had a healthy child between the ages of 2-11. Participants were randomized into a control group or an intervention group that received a genetic counseling intervention via a recorded informational video and a brief in-person session. Surveys were given at the time of recruitment, immediately after the genetic counseling intervention (intervention group only) and one month after recruitment. Differences in risk perception and knowledge of prevention strategies in the intervention group were measured directly after the intervention using paired samples t-tests and over time using one-way ANOVA. Differences in the control group and intervention group were compared at one month post intervention using one-way ANCOVA analyses with pre-test scores as a covariate.

Results: A total of 22 participants, all female and between the ages of 23-43, have participated in the study to date. The intervention group significantly increased their diabetes risk knowledge as measured by the risk perception scale directly after the intervention (p=0.002), and this increase remained significant at one-month post intervention (p=0.022). The intervention group had significantly increased knowledge of prevention strategies directly after the intervention (p less than 0.001) and at one-month post intervention (p less than 0.001). The intervention group did not increase their overall risk perception for their child to develop type 2 diabetes directly after the intervention or at one-month post intervention. At one-month post intervention, there were no statistically significant differences between the control and intervention group for risk perception or diabetes risk knowledge (p=0.075 and p=0.069 respectively), but there were significant differences in knowledge of prevention strategies (p=0.017) and the Child Feeding Score (p=0.039), which represents implementation of prevention strategies. In addition, when asked specifically about how family history impacts their child’s risk to develop type 2 diabetes, the intervention group showed an increased understanding compared to the control group. The genomic outcome scale evaluated the impact of genetic counseling on participants and displayed significant increases in empowerment at one-month post intervention (p=0.035).

Conclusions: This study showed that genetic counseling increased parental knowledge of risk for diabetes, knowledge of how family history impacts risk for their child to develop type 2 diabetes, and knowledge of prevention strategies. It also showed that parents were implementing some of the suggested prevention strategies at one-month post intervention. Genetic counseling for parents whose children are at risk for multifactorial conditions will likely increase in the future, so further exploration on how to provide effective counseling in this area is warranted.

Pilot Project: Online Modules Increase Knowledge of Lysosomal Storage Disorders in Genetic Counseling Students

Introduction: Lysosomal storage disorders are rare inborn errors of metabolism that can lead to progressive deleterious effects, causing significant morbidity and mortality. These conditions are estimated to affect 1 in 7,000 live births. It is essential for health care providers to be able to recognize and diagnose these conditions in order to facilitate early treatment and consequently provide the best possible outcome for the patient.

Methods: To increase knowledge and awareness of lysosomal storage disorders among health care professionals, three online modules were created that included clinical scenarios of patients with mucopolysaccharidosis type 1 (MPS1), Pompe, and Gaucher disease. Each module is approximately 5-10 minutes in length and guided the participant through an initial patient presentation, testing options/results, diagnosis, treatment options, and genetic counseling considerations. A pilot study to assess the effectiveness of these modules was performed with 9 genetic counseling students. Participants answered knowledge-based questions before and after each module. Additional questions were asked to evaluate participants perception of the design and usability of the modules at the conclusion of the modules.

Results: The average pretest scores for the 9 first- and second-year genetic counseling students who participated in the study was 48% compared to the average posttest scores of 96%. Participants overall perception of the design and usability of this resource was positive. Conclusion: Our study demonstrated that these online modules increased knowledge and understanding of lysosomal storage disorders in our pilot group. Due to the small sample size, the relevance of our findings to other health care professionals is limited. However, the initial findings suggest this resource could potentially be an effective resource for other health care professionals to better understand the etiology, clinical manifestations, treatment options, and genetic counseling considerations for patients with lysosomal storage disorders.

Conclusion: Our study demonstrated that these online modules increased knowledge and understanding of lysosomal storage disorders in our pilot group. Due to the small sample size, the relevance of our findings to other health care professionals is limited. However, the initial findings suggest this resource could potentially be an effective resource for other health care professionals to better understand the etiology, clinical manifestations, treatment options, and genetic counseling considerations for patients with lysosomal storage disorders.

Transitional Needs in Patients with a Genetic Condition in a Formal Transition Program

Introduction: The need for transition services from pediatric to adult healthcare increases as the survival rate of individuals with chronic health conditions increases. As young adults with genetic conditions navigate the process of healthcare transition, it is necessary to understand their needs to inform the implementation and improvement of formal transition programs. Currently, there is little research regarding healthcare transition programs for patients with a genetic condition. The purpose of this study was to better understand the impact of a genetic diagnosis on transitioning to adult healthcare, identify areas of need regarding transition in patients with a genetic condition, and assess the effectiveness of a formal transition program for individuals with a genetic diagnosis.

Methods: A mixed methods approach was utilized to obtain both quantitative and qualitative data. Participants with a genetic diagnosis were recruited through a formal transition program that assists young adults aged 18 or older with chronic health conditions transfer from pediatric to adult healthcare. Survey, interviews, and Transition Readiness Assessment Questionnaire (TRAQ) data were analyzed with descriptive statistics and inductive coding to assess the participants healthcare transition experience.

Results: Of the 18 participants that completed a survey, 12 also completed an interview. Participants were found to have varying levels of condition knowledge with an average of 3.89/5 on the survey and expressed a need for more resources (e.g., condition updates, support resources, research information) regarding their genetic condition. The median of the overall TRAQ score (4.6/5) was higher than the average reported level of transition readiness (3.56/5) on the survey. Varying levels of genetic condition impact on the transition process were reported with an average of 2.94/5 on the survey. In the qualitative interviews, ten participants (83.33%) expressed satisfaction with the transition program.

Conclusions: Data from this study supports a formal transition program as an effective healthcare transition intervention for those with a genetic condition, and the implementation of these programs should be considered at other institutions. Based on these findings, healthcare providers should consider referring their patients with a genetic condition to a genetics provider during the transition period. Additionally, formal transition programs should consider including a genetics provider as a member of the multidisciplinary healthcare team.

Factors Associated with Patient Attendance at Disclosure of Germline Results: A Retrospective Chart Review of a Pediatric Cancer Predisposition Clinic

Child, adolescent, and young adult (CAYA) attendance at genetic counseling appointments has the potential to improve their understanding of genetic information and adherence to medical management guidelines. However, the current literature does not describe factors related to this patient population’s attendance to these appointments.

Using a retrospective chart review, demographic and clinical data were extracted for CAYA (ages 8-25) who received care at the St. Jude Children’s Research Hospital Cancer Predisposition Clinic between 2017 and 2019. SPSS univariate and multivariate regression was then used to compare collected variables to CAYA attendance. CAYA patients who attended disclosure appointments were more likely to be older (p=0.03), have fewer first-degree relatives with cancer (p=0.03), and have mental health concerns (p=0.076). Patients scheduled for an in-person appointment (p=/less than 0.001) whose mother did not attend their genetic counseling appointment (p less than 0.001) but their siblings (p less than 0.001) did accompany them to the appointment were also more likely to be in attendance. Families whose disclosure was in-person were more likely to be Hispanic (p=0.001), have fewer first-degree relatives affected with cancer (p=0.005), actively be receiving cancer treatment (p=/less than0.001), and be diagnosed with a blood cancer (p=0.008). These findings demonstrate factors that should be considered when scheduling CAYA patients and when they may be less likely to attend. CAYA may be more likely to attend their results disclosure appointments under certain conditions. In cases where this may not be as likely, a genetic counselor should encourage parents to include their CAYA in their genetic testing results disclosure appointments or at a minimum encourage conversation within the family to ensure they receive full and accurate information regarding their genetic testing results.

Assessing the Use of High-Fidelity Simulation to Integrate Cultural Competency Skills in Genetic Counseling Training†Ω

Introduction: Religious and spiritual (RS) beliefs are cultural values that may be central to the way patients cope with difficult information. In accordance with the field’s practice-based competencies, genetic counselors must be trained to sensitively explore RS beliefs to better understand patients’ decision-making and support systems. No studies exist which evaluate the use of high-fidelity simulation (HFS) as a tool for training cultural competency values in genetic counseling training programs.

Purpose: This pilot study aimed to provide insight into the development, implementation, and evaluation of high-fidelity simulation’s effectiveness as a training modality for genetic counseling cultural competence training.

Methods: Participants (n=7) included genetic counseling students at the University of Alabama at Birmingham. The simulation scenario required students to discuss a positive first-trimester serum screen with an outwardly religious simulated prenatal patient. Student perceptions on simulation helpfulness, level of confidence and/or comfort, and overall attitudes related to addressing RS beliefs were assessed using a mixed-method approach through pre- and post-simulation surveys. Paired Likert scaled questions were compared using a two-tailed t-test and open-ended responses were coded in grounded theory methodology.

Results: Following the simulation, students noted a significant increase in comfort related to addressing religious and spiritual beliefs in the future (p = 0.045). Students agreed that the simulation was a safe and helpful way to practice culturally competent counseling skills. Common themes included pre-simulation concerns of upsetting the patient and balancing scientific information with religious beliefs. Post-simulation responses demonstrated students found it challenging to ask follow-up questions related to these beliefs.

Conclusion: This study sets the foundation for future research in high-fidelity simulation training on additional areas of cultural competency and across multiple training programs in the genetic counseling setting. Our study supports the use of HFS as an effective training modality for cultural competency in the genetic counseling setting.

Whole Genome Sequencing in Adults: Experiences and Outcomes Among Probands and Caregivers†

While there is significant research about pediatric proband experience with genome sequencing (GS), little is reported about the adult proband’s experience with GS. This study aimed to explore the adult experience with GS, including psychosocial and psychological impacts with receiving results, and adult’s needs based on this impact. An online survey was distributed to 38 adult participants, which returned 10 survey responses. Follow up semi-structured qualitative interviews were conducted for eight survey respondents, which included one caregiver. All participants had a basic understanding of their result, including their result type and general knowledge of its meaning. A majority (7/8) of interview participants experienced confusion about GS or their result, and disappointment and frustration regarding their result. Additionally, participants often reflected on their own challenges with rare disease when providing reason for the emotions they experienced and reported a general interest in learning more information. All survey (10/10) and interview (8/8) participants reported that they did not experience regret after receiving GS results, indicating low levels of decision regret among adult participants regardless of result type. Overall, these results emphasize the unique challenges for adults that undergo GS and pre- and post-test GS counseling considerations for this unique group. Despite reported low levels of regret, findings of this study show that additional counseling at time of result return – specifically regarding the meaning of a nondiagnostic result in the setting of rare adult disease – may be helpful for adults undergoing GS.

Developing an Informed Intimacy Resource for Individuals with Neurofibromatosis 1†

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition characterized by cutaneous neurofibromas, café-au-lait macules, skinfold freckling, optic gliomas, Lisch nodules, plexiform neurofibromas, learning disabilities, bone deformities, and cancer. The visible features of NF1 are associated with psychosocial distress, significant impacts on self-esteem, and increased sexual self-consciousness, which can affect potential and current intimate relationships for patients. To date, there are no specific intimacy resources for individuals with NF1 available, despite both patients and providers reporting the need for such materials.

The purpose of this study was to better understand the impact of NF1 on intimacy as well as educational and psychosocial information desired by the adult NF1 population on the topic of intimacy in order to develop a patient-centered resource. A qualitative study was performed using semi-structured interviews to explore the impact of NF1 on intimacy and gather suggestions for information to include in an intimacy resource. Participants were recruited through an NF1 patient advocacy organization registry. Participants completed a demographic survey, and 10 were selected to complete semi-structured interviews. Participants were selected to represent diverse backgrounds and relationship experiences. Data from interviews were transcribed and analyzed using thematic analysis. The impact of NF1 on intimacy can be categorized into three distinct themes including psychological, physical, and social impacts. Subthemes included were self-consciousness, low self-esteem, pain related to NF1, concern for negative reactions from others, and challenges initiating romantic relationships. Participants discussed that important topics to include in the resource are how to talk about NF1 and intimacy, appropriate specialists to see, and ways to connect with other NF1 patients. Participant feedback on ways to improve intimacy encompassed personal actions or behaviors and interactions with partners including self-acceptance, communication, and self-discovery. Based on the feedback from these interviews, an informed resource was developed. This resource provides helpful information for providers and patients affected by NF1 on the topic of intimacy and includes potential suggestions for addressing and improving intimacy in relationships.

The Effect of Marfan Syndrome on Reproductive Decision Making among Adult Women†

Marfan syndrome (MFS) is a hereditary condition associated with significant health concerns including aortic dissection. When considering pregnancy, individuals with MFS are confronted with the risk of passing the condition on to their children as well as the increased risk of life-threatening cardiac complications.

This study addressed the understudied question of how a diagnosis MFS impacts reproductive decision making. The hypotheses were that MFS would have an impact on reproductive decision making, individual health would be a greater factor than risk of passing the condition, exposure to genetic counseling would impact decision making, and this population would report an interest in prenatal testing. Women with MFS were recruited via The Marfan Foundation to participate in a survey of open and closed-ended questions concentrated on age at diagnosis, family history of MFS, perception of illness, and reproductive options. Quantitative data was analyzed with descriptive statistics and the Cochran-Mantel-Haenszel method, and qualitative data was analyzed for themes supporting the quantitative data. Forty-six individuals participated. A large majority (98%) reported that MFS had an influence on their decisions to have children. Eighty six percent of participants reported that both the possibility of having a child with MFS and the risk of MFS-related pregnancy complications influenced their reproductive decision making. The perception that MFS has a negative effect on their lives approached a statistically significant correlation with the belief that MFS had an influence on the decision to have children (p=.059). Most participants (74%) reported that they would consider adoption but would not consider other family planning options. Common themes cited in qualitative data were concern about passing the condition to offspring (33%), individual health risks in pregnancy (23.8%), consideration of reproductive options (19%), deciding against having children (19%), and concern about parenting ability (7.1%). The findings demonstrate that MFS has complex and personal effects on reproductive decision making. Genetic counselors should recognize the importance of following up with patients approaching reproductive age to discuss reproductive options and concerns. There is a need for similar studies on other conditions with clinical overlap with MFS, factors impacting uptake of reproductive options, and ways genetic counselors can provide additional support to this patient population regarding reproductive decisions.

Alabama Genomic Health Initiative Community Engagement Outcomes Study Follow Up Interviews†

Population screening allows for identification of genetic contribution to disease risk which can lead to reduced morbidity and mortality with the implementation of screening and management recommendations. As the uptake of population screening expands it is important to assess the medical and psychosocial outcomes. The Alabama Genomic Health Initiative (AGHI) is a genomic research program. Individuals within this study had previously received an actionable result via genotyping through AGHI, completed an outcomes survey assessing participant motivations for testing, satisfaction with testing, and action taken based on result, and agreed to be recontacted for additional research.

This qualitative study assessed actions taken based on population screening results, understanding of results, whether participants shared results with healthcare providers and family members, emotional impact of results, and testing experience feedback. Twenty individuals were recontacted to complete semi-structured phone interviews. Analysis of interview data yielded 13 themes among four question categories: understanding of result, sharing result with healthcare providers and family members, emotional impact of result, and testing experience feedback. Themes for the understanding of result category included: time since receiving result, and occupation/prior knowledge. Themes for the sharing result with healthcare providers and family members category included: patient-provider relationship, value of information, and concern for wellbeing of others. With regard to emotional impact of results, participants felt expectation, surprise, relief, curiosity, and anxiety. Feedback regarding testing experience included the following themes: utility of information, desire for more information, and appreciation of information. Participant action based on results was assessed and determined as positive, neutral, negative, or undetermined based on lack of information. Ten (50%) of individuals took the appropriate action based on result. Of all participants interviewed, there were no negative or harmful actions taken based on result. These findings indicate population genomic screening is not harmful and may have positive outcomes on participants now and in the future, however further research is needed in order to assess clinical utility.

The Role of Genetic Counseling Self-Efficacy in Variant Interpretation Discrepancies†

As the cost of genetic testing decreases, specifically whole exome and whole genome sequencing, the number of identified variants is increasing. Genetic Counselors play an important role in variant interpretation as they have access to a patient’s clinical information. However, not all genetic counselors engage in this process. This study explored self-efficacy as a potential barrier to variant interpretation. One-hundred three genetic counselors completed an online survey distributed through the National Society of Genetic Counseling assessing self-efficacy and variant interpretation practices. Five survey participants participated in a focus group to elaborate on survey findings. ANOVA analyses revealed no significant differences in self-efficacy and variant interpretation practices. Thematic Analysis of the focus group transcript revealed four themes: Clinical Judgement, Variant Interpretation Process, Variant Interpretation as part of the Genetic Counseling Scope, and Self-Efficacy. The focus group highlighted the desire for standardized process guidelines for variant interpretation.

Evaluation of Impacts and Outcomes of Pediatric Cancer Genetic Counseling and Testing†

Eight to ten percent of children with cancer are expected to have a genetic predisposition, although such predispositions are not well understood. The Cancer Predisposition Program (CPP) at St. Jude Children’s Research Hospital (SJCRH) is an ideal environment to assess outcomes of genetic testing and surveillance by eliminating cost, expanded panel testing availability, and ability for all oncology patients to receive genetic counseling. Demographics, cancer history, testing results, and surveillance outcomes were investigated in a cohort of SJCRH proband patients seen in the CPP August 2014-December 2018. Demographics, genetic testing results, and surveillance outcomes for family members who underwent cascade testing were examined. 80.3% of the 1,724 cohort proband patients, underwent genetic testing. The overall positive rate (pathogenic variant or clinically relevant result) was 30.38%. Most individuals had at least one family member undergo cascade testing. Proportionally, more VUS results were found when testing wasn’t limited based on patient tumor type. Of the 16 surveillance patients with tumors caught, 11 were stable at time of study, and the two who were deceased cause of death was unrelated to the tumors caught via surveillance. When looking at only traditional cancer predisposition proband testing (single gene, gene panel, and whole exome sequencing) and excluding over-represented RB1 testing, the positive rate was 15.84%. This positive rate result is higher than the 8-10% previously reported. The high VUS rates may be caused by expanded phenotype and is indication of importance of genetic counseling throughout the genetic testing process.

The Impact of Genetic Counseling on Patient Uptake and Satisfaction of Preimplantation Genetic Testing†Ω$

This study aimed to explore how genetic counseling impacts whether patients pursue or do not pursue PGT and how these services impact their overall satisfaction with this healthcare decision. This is an international cross-sectional survey. The survey was posted to six Facebook support groups (see appendix) over a five-month period and members of the private pages were asked to complete a three-section survey exploring their experiences with their most recent cycle of IVF. Survey responses were compared between those who received genetic counseling services and those that did not with descriptive statistics, chi-squared, t tests, and ANOVA statistical analyses. Out of 51 participants who completed the survey, three-fourths (n=38, 74.5%) elected to proceed with PGT while one-fourth (n=13, 24.5%) chose not to pursue PGT. Out of the participants who chose to pursue PGT, 16 (42.1%) received genetic counseling services. Only two participants (15.4%) who chose not to pursue PGT received genetic counseling services. No significant difference was found when comparing participants overall satisfaction with their decision regarding the uptake of PGT between those who received genetic counseling and those that did not; on average, those who received genetic counseling had slightly higher scores on the Satisfaction with Decision (SWD) scale. Participants who chose to pursue PGT have different motives supporting their decision when compared to those who chose not to pursue PGT. Whether or not this population received genetic counseling did not significantly impact their decision regarding the uptake of PGT. While many participants feel they were able to make informed decisions surround the utilization of PGT, those who received genetic counseling had slightly higher average scores regarding the satisfaction with their decision.

Improving Access to Potential Genetic Counseling Students through High School Counselors†

As the field of genetic counseling continues to grow, so does the need for qualified applicants for genetic counseling training programs. A resource that is often utilized by high school students in career decision making is the student’s high school counselor. Prior to this research, no nationwide assessment of school counselor’s understanding of genetic counseling has taken place. This study used a survey distributed by the American Association of High School Counselors, and several state specific school counseling organizations, to assess the knowledge and comfort level that high school counselors have discussing genetic counseling, and to gain insight into their general career counseling practices. Forty-nine (49) survey responses were used in data analysis, the majority of which were female counselors working in public schools in Ohio and New York. Of participants, 14% had never heard of genetic counseling, and 53% had never discussed genetic counseling with a student. Health care careers with similar training levels and work environments, such as nursing, physician’s assistant, and medicine, were seen to be shared often or very often by the majority of participants. This study highlights the deficit in high school counselor knowledge of genetic counseling, and offers strategies from school counselors on the best ways to offer education on health care careers to their field.

Comparing Clinician-Parent Communication Patterns During Genome Sequencing Result Disclosures in a NICU Setting†

Clinical genome sequencing has recently emerged as an effective and feasible tool in the diagnosis of infants with suspected genetic disorders. SouthSeq is a clinical research project exploring a role for training non-genetics professionals to effectively disclose genome sequencing results within the context of neonatal intensive care. This mixed-method study aims to define the parent and provider communication behaviors that comprise the process of post-test genomic counseling in the neonatal setting and to uncover any differences in the pattern and content of communication between sessions led by genetic counselors and non-genetics professionals with the goal of informing theoretical counseling models and future training efforts. A focus on behaviors that facilitate patient engagement is applied in response to recent calls for reformed counseling models. Audio from 20 results disclosure sessions was recorded and transcribed. A content analysis approach was used to quantitatively characterize and compare session content for both provider types. Inductive coding was used to extract key qualitative themes. The analysis showed that clinician facilitative communication behaviors including partnership building and supportive communication correlated positively with parent participation in the disclosure sessions (R = 0.622, p < .005). Clinician facilitative communication did not vary significantly between genetic counselors and non-genetics neonatology providers. Clinician facilitative behaviors included asking question, checking for understanding and prior knowledge, affirming parent expressions of feelings, beliefs, and concerns, and normalizing potential parent feelings and concerns. Most parent participation was clinician prompted. Parents self-initiated participation mostly to clarify causes of symptoms and features, to clarify risks, to share prior experiences and knowledge from self-initiated research, and to confirm logistic details for participation in the research study. This study offers significant insight into how communication behaviors of clinicians and parents interact within the context of a genome sequencing results disclosure session. Future research is necessary to clarify the extent to which clinician engagement strategies and parent participation correlate with outcomes such as measurements of parent empowerment and satisfaction.

Assessment of Cancer Risk Understanding and Motivations for Research Participation in Individuals Receiving Negative Screening Results in the Healthy Oregon Project (HOP)†

Genetic screening programs for hereditary cancer predispositions require more knowledge about the experience of participants and influences on their participation to better prepare resources for participant support in the absence of traditional genetic counseling. The Healthy Oregon Project (HOP), one such program, utilizes an online application to consent, educate, and deliver negative screening results. HOP participants who received negative screening results were invited to complete a survey to assess comprehension of their residual cancer risk and explore their motivations for participating. This survey also inquired about their impression of the app-based protocol for HOP. Eighty-three (83) participants responded to the survey with the majority (n=71, 85.5%) having earned at least an undergraduate degree. Most (n=60, 72.3%) answered at least two of three questions about hypothetical residual risk correctly and predominantly (n=47, 56.6%) reported easily understanding their result report in the absence of genetic counseling. However, few individuals informed or planned to inform family members of their result and many described confusion about the translation of the result into their medical care. Subjects reported family history least impacted their decision to participate. Analyses presented a significant correlation between participant education and desire to contribute to research. Survey responses convey that individuals are more motivated to participate due to personal health and interests which may explain participant confusion in translating this result into their own medical health and understanding its impact on family members. Results from this research suggest the need for development and acquisition of post-screening supportive resources for participants to ensure appropriate understanding of the impact of their screening result and ethical conductance of this genetic screening.

A Case Study of Patients with Molecularly Confirmed Mosaic NF1

Neurofibromatosis type I (NF1) is an autosomal dominant neurocutaneous condition with phenotypic heterogeneity (OMIM: 162200). For around 5% of patients who meet the NIH clinical diagnostic criteria for NF1 a pathogenic variant cannot be identified. Biopsy of affected tissue—specifically neurofibromas (NFs) or café au lait spots (CALs)—has proven effective for identification of a variant not present or detectable in blood for mosaic individuals. Mosaicism presents a challenge in determining reproductive risk, which can range from a 1% to 50% chance of passing on the disease-causing variant in NF1 to any future child. Identification of NF1 variants in CALs or NFs allows for a targeted analysis in reproductive testing, which is a common objective of testing. Eight (8) individuals are reported with previously negative blood-based testing, a confirmed molecular diagnosis of mosaic NF1 from biopsy specimens, and clinical phenotypic information, including known reproductive outcomes for four (4) cases. Comparison of molecular results identified common first-hit mutation types (total gene deletion and protein truncation) in the included cases.

Patient Utilization of Telephonic Genetic Counseling Services†

Telephonic genetic counseling is a popular service delivery model proposed to meet the growing needs the public has for cancer genetic counseling. This study aimed to examine whether appointment and testing outcomes for patients referred to InformedDNA cancer genetic counseling by providers at Siteman Cancer Center differed between patients of different age, sex, race, community type, insurance status and diagnosis. This was a retrospective chart review using the electronic medical record to obtain demographics and a spreadsheet provided by InformedDNA to obtain appointment and testing outcomes for patients referred to telephonic genetic counseling. The study utilized chi-square analysis to compare populations and multinomial logistic regression to identify trends in appointment and testing outcomes following patient referral to telephonic genetic counseling services. Of the three-hundred and ninety-seven (397) patients studied, most were female, white, living in a metropolitan county, possessed commercial insurance, and the average age was 56.1. Appointment outcomes were significantly different based on sex and age. Testing outcomes for individuals deemed appropriate for genetic testing were significantly different based on race. There were significant trends in appointment and testing outcomes based on patient demographics. This study identified several differences and trends in appointment and testing outcomes, suggesting that telephonic genetic counseling might not be equally accessible or preferable to all populations. It is important to continue conducting research into the utility of alternative service models to ensure genetic counselors are providing the best care to the most patients possible.

Assessing Interest in Genetic Counseling for Patients with Immune Deficiencies

Primary Immunodeficiency Disorders, or PIDs, are a class of diseases affecting the inherent, genetically-determined immune system of an individual. Although consultation with a genetic counselor and genetic testing for PIDs is recommended, patient interest in and need for genetic counseling for immune conditions has not been well examined. This study aimed to assess the interest in genetic counseling among families affected by PIDs, and to examine several factors that may influence this desire or need for genetic counseling services. Invitations to an online survey were sent by mail to a list of patients curated by Invitae laboratory, UAB, and Children’s of Alabama. Twenty-six (26) people completed the online survey, which assessed the participant’s knowledge of genetics, understanding of their child’s genetic testing result, satisfaction with a genetic counselor if applicable, or interest in genetic counseling. In general, the interest in genetic counseling was reported as high by the participants who had never seen a counselor. However, ANOVA and Chi-Square analysis determined that there was not a significant association between participant interest or satisfaction with genetic counseling and their understanding of basic genetics and genetic test results. These results indicate that genetic counseling should be made available to patients who are interested in these services, but it may not be necessary for families to have a positive experience with genetic testing for PIDs.

Diverse Career Considerations of Potential Genetic Counseling Applicants†

Despite the immense growth in the field of genetic counseling and diversifying patient population in the past decade, membership diversity has remained stagnant with little heterogeneity. The purpose of this study is to better understand potential reasons for this discrepancy to improve recruitment strategies. This was accomplished by examining the career considerations of potential genetic counseling applicants and the possible relationship with demographic factors such as ethnicity, gender, or finances. An anonymous online survey was distributed among undergraduate students involved in organizations or groups with focuses in science, health professions, and psychology. This survey examined four main categories: demographics, previous knowledge of genetic counseling, considerations when choosing a career, and interests in pursuing a career in genetic counseling. Findings suggest that most students with these study interests are also interested in pursuing a career in genetic counseling after being provided with a description of the field, regardless of ethnicity or gender. Caucasians were the only ethnicity that was more likely to have heard of genetic counseling than to have an actual interest in pursuing it as a career. Many students have an interest in pursuing genetic counseling as a career despite minimal exposure through formal recruitment methods, with the most common introduction to genetic counseling being through word-of-mouth. This interest is highest in individuals of ethnic minorities, which further suggests barriers within the recruitment pipeline. Recruitment strategies should consider these findings by placing greater emphasis on informal promotion of the field, greater community involvement, and earlier introductions to the field.

Evaluating the Application and Scope of the Genetic Counseling Intervention Reporting Standards (GCIRS)†

The Genetic Counseling Intervention Reporting Standards (GCIRS) were published in 2017 to satisfy the need for field-specific reporting guidelines, with the goal of promoting publication of high-quality research. We conducted a pre-post analysis comparing the reporting quality of research on genetic counseling before and after publication of the GCIRS with the aim of delineating areas for improvement in reporting practices and the GCIRS itself, as well as providing clarity to the types of studies to which the GCIRS can apply. Eligible studies published in the Journal of Genetic Counseling were divided into “Pre-GCIRS” (Jul 1, 2015-Dec 31, 2016) and “Post-GCIRS” (Jul 1, 2017-Dec 31, 2019) periods and scored for completeness of reporting using the GCIRS checklist. There was a 24.7% increase in overall reporting quality score between the two periods (42.4% Pre-GCIRS, 52.9% Post-GCIRS; p=0.03). GCIRS components that showed the greatest improvement related to counseling duration (p=0.02) and delivery mode (p=0.02).

These results demonstrate that, while the reporting quality of studies involving genetic counseling has increased since publication of the GCIRS, further improvement is needed. Authors who seek to publish studies on patient outcomes of genetic counseling are recommended to adhere to the GCIRS. Furthermore, future modifications to the GCIRS are suggested to increase ease of use and holistic portrayal of genetic counseling.

Genetic Counselor Perceptions and Opinions of Population Genetic Testing†

Increasing use of population-based genetic testing will have an impact on genetics professionals and the delivery of clinical genetic services. The purpose of our study was to gain the unique insight of genetic counselors’ understanding of the benefits and limitations of population-based genetic testing, as well as the educational and counseling needs of patients. Genetic counselors (n=174) completed an electronic survey on current experiences with population genetic testing as well as opinions for how population-based genetic testing would best be implemented. Respondents were asked what categories of genetic testing should be used for all patients versus patients with specific indications, as well as what categories of genetic testing should be ordered direct to consumer versus ordered by a healthcare provider. Factors that impact whether a test should be offered directly to a population were explored in more depth using qualitative questions.

Quantitative data was analyzed by The SAS System, and open-ended questions were thematically analyzed independently by authors. More genetic counselors reported counseling patients on results from population-based testing (50%) than report actually recommending the testing for their patients (36%). Thematic analyses revealed that medical actionability and “infotainment” were key factors in differentiating genetic information that should be available on a population level, as well as what information should be made available directly to a patient or consumer. Ultimately, 55% of genetic counselor respondents predicted that population-based genetic testing will become more common, and genetic counselors will shift to a posttest counseling-only model, when considering the landscape of testing in the next 5-10 years.

The Effect of an Educational Video on Knowledge and Intent in an OB/GYN Population†$

Recent guidelines from the American College of Obstetrics and Gynecology (ACOG) recommend that expanded carrier screening (ECS), which screens for conditions regardless of a patient’s family history or ethnicity, should be offered to every female of reproductive age. The present study aimed to determine if implementation of an educational video in OB/GYN clinics would increase knowledge of ECS and promote informed decision making. Specifically, the study assessed if the video increased knowledge of ECS and impacted intent regarding ECS. Pregnant women (N = 30) were recruited in clinic or through a message sent through the electronic medical record system. Pre- and post-video surveys were utilized to explore participants’ knowledge and views on ECS.

Participants were found to have more correct answers the knowledge-based questions after watching the video (p<0.05). The percentage of participants desiring ECS increased from 53.6% pre-video to 67.9% post-video (p=0.05). The findings suggest that the educational video increased knowledge and influenced intent regarding ECS in this OB/GYN population.

Evaluating the diagnostic odyssey in the ultra-rare NGLY1-CDDG community†

With advancing technology, we are witnessing the emergence of a new category of rare disease. These so-called “ultra-rare” diseases, defined by a prevalence of less than 1 in 50,000 (4) are now recognizable and diagnosable due to advances in genomic testing, such as whole exome and whole genome sequencing (WES/WGS). We do not know how families with newly recognized ultra-rare diseases experience the diagnostic odyssey. The purpose of this study was to explore the experiences, barriers and facilitators of diagnosis, and perceived utility of diagnosis among families of individuals diagnosed with NGLY1-deficiency, a representative ultra-rare disease.

Survey questionnaires were assessed from 16 families representing 17 patients who received an email invitation to participate. Survey responses were evaluated through simple descriptive statistics with representative qualitative responses included in text when thematically distinct from available options. The majority (16/17) of patients were diagnosed through WES, though access to medical care, including WES, was identified as a key barrier to diagnosis. Only 9 of 16 patients reported an immediate impact on treatment, 15 of16 families found the diagnosis to be more helpful than hoped and identified awareness of disease prognosis and cessation of unnecessary testing and benefits. Only one family felt that medical professionals were able to effectively describe the disease at the time of diagnosis and lack of disease awareness was identified as a perceived barrier to diagnosis. Online patient advocacy groups were the primary source of information to which families turned for additional information.

Lost in Translation: Assessing Interpretation in Genetic Counseling Settings†

As the field of genetic counseling grows, so does the likelihood of encountering a patient with Limited English Proficiency (LEP), necessitating the use of an interpreter. Many strategies to assist genetic counselors in mitigating common issues with interpretation have been proposed; however, there is a lack of information and resources available for interpreters working in a genetic or genetic counseling session. We sought to assess interpreter familiarity with genetics terminology and available resources as well as willingness to participate in specialized genetic counseling interpretation training. A 50 item online survey was distributed via email and recruitment postings on discussion boards and social media sites. 146 total responses were analyzed using descriptive statistics, Chi-square, and Fisher’s exact tests.

Overall, 77% of participants scored well on the genetics terminology portion of the survey. Most participants were aware of at least one of the listed resources and identified Interpreter Education Online Webinars as the most helpful. Fifty- eight percent of participants stated that they had previously provided interpretation in a genetic or genetic counseling setting. Of those who had not interpreted in such a setting, 75% said they would be interested in doing so. Furthermore, a remarkable 97% of all respondents indicated that they would be interested in further training, selecting web-based training as the preferred mode. This study reiterates the need and desire for interpreter-focused education for these settings and creation of a continuing education tool is recommended.

A Qualitative Evaluation of Patient Experiences with the UAB Undiagnosed Diseases Program†

Rare diseases affect 1 in 10 Americans, so while individual diseases might be extremely uncommon, when considered as a group, rare diseases have a large impact. Previous studies have investigated experiences of patients prior to being seen or at the beginning of their evaluation by undiagnosed diseases programs. This study provides an in-depth, qualitative evaluation of patient and parent experiences after participation in a unique, fee for clinical service undiagnosed diseases program, allowing for reflection of current practice and patient/parent needs. Methods: Semi-structured interviews were conducted with patients and parents of patients seen by the Undiagnosed Diseases Program (UDP) at the University of Alabama at Birmingham (UAB). Analysis of the interviews was guided by a thematic approach. Results: A total of 11 interviews were completed with parents of pediatric patients (n=3) and adult patients (n=8). Four major themes emerged:

1. Diagnostic Odyssey,
2. Appreciation,
3. Diagnostic Outcome, and
4. Communication.

Participants underwent a diagnostic odyssey prior to being seen by the UDP and remained hopeful for a diagnosis. They appreciated the opportunity to be seen by the UDP. However, overall experiences differed based on whether evaluation by the UDP led to a diagnosis. Additionally, while participants were happy with initial communication, they indicated a desire for further follow-up after evaluation. Conclusion: Patients and parents of patients believe that participation in an undiagnosed diseases program is a desirable option for diagnosis. The findings of this study provide a general overview of patient experiences, and highlight strengths of the UAB UDP while also emphasizing areas to focus improvement in order to optimize the impact on patients and families. These findings may also be transferrable to other undiagnosed diseases programs or genetics clinics serving patients in the rare disease community.

Developing a Genetics Educational Intervention for Psychiatry Residents†

The role of genetics in psychiatry continues to be elucidated through the identification of risk-conferring alleles and syndromes that display psychiatric features. However, previous research has shown that psychiatrists do not feel competent to discuss the genetics of psychiatry with their patients. The goal of this study was to assess current psychiatry residents’ understanding of the genetics of mental illness before and after an educational intervention. Pre- and post-intervention surveys were administered to psychiatry residents to evaluate genetics knowledge, familiarity with genetic counseling, and practice patterns related to genetics.

Results indicate that participants feel it is their job to discuss topics of genetics with their patients, but do not feel prepared to do so, as evidenced by reported lack of training in genetics and low genetics knowledge scores. Additionally, residents report unfamiliarity with the field of genetic counseling and few had referred patients to genetics in the past year. Residents demonstrated improved genetics knowledge (p=.01), understanding of genetic counseling (p=.021), and identification of reasons for referral to genetics (p<.001) on the post-intervention survey. This research shows that a short educational intervention has the potential to improve psychiatry residents’ understanding of genetics.

Assessing Cutaneous Neurofibroma Related Intimacy Concerns in the Adult Neurofibromatosis Type I Population†

The purpose of this study is to determine if adults with NF1 experience cutaneous neurofibroma (cNF) related intimacy issues and if this is being addressed by healthcare providers (HCP). Methods: Patient and HCP surveys, adapted from the Dermatologic Intimacy Scale, were used to assess cNF-related intimacy concerns and the HCP experience. Free response questions were utilized in order to gain a deeper understanding of intimacy concerns.

Results: For the adult NF1 population, cNF burden was significantly associated with how often providers asked about intimacy concerns (p = 0.0082). HCP and NF1 patients both indicated that patients infrequently discuss intimacy concerns. However, patients indicated they feel anxious and isolated due to their cNFs. Many HCPs indicated they were uncomfortable with discussing intimacy concerns and would prefer to have support resources. The importance of having a supportive spouse, negative self-esteem due to their cNFs, fear of judgement and rejection, and worry about the progressing severity of cNFs were common themes in the adult NF1 population. For HCPs, lack of time and resources, and the need to discuss other features of NF1 were barriers in clinic. Conclusions: cNF-related intimacy concerns are present in the adult NF1 community and HCPs are not addressing these concerns. Overall, there is a need to discuss intimacy concerns in the NF1 community, although the exact role of providers has yet to be fully explored. The formation and utilization of support resources, whether that be written materials or patient support groups may be a good starting point.

Creating an Inclusive Genetic Counseling Workforce: A Local Educational Initiative*†

Expanding and diversifying the genetic counseling workforce is essential in order to meet the growing needs of its changing patient population. However, lack of early awareness of the profession represents a significant barrier to recruitment of students, particularly underrepresented racial/ethnic minorities, into genetic counseling training programs. The purpose of this study was to increase knowledge of and interest in genetics and genetic counseling among high school students participating in a Summer Science Institute at the University of Alabama at Birmingham. Forty-three students were engaged in a 90-minute discussion- and activity-based lesson designed to promote understanding of genetics and genetic counseling principles and practice. Student knowledge and interests were measured prior to and following the lesson using surveys and pre-/post-tests. Students reported little to no prior familiarity with genetic counseling before the educational intervention.

Afterward, more than 90% of students reported an increase in knowledge and understanding of genetics and genetic counseling principles and practice. This self-assessment was further supported by a significant improvement in average pre-to-post-test scores. Just over half of participants reported that the educational intervention increased their interests in pursuing genetic counseling careers. These findings suggest that genetics and genetic counseling educational interventions can reduce a previously identified barrier to student recruitment and stimulate interest in genetic counseling careers. Ongoing efforts to expose underrepresented minority high school students to the profession could help to promote racial/ethnic minority student entry into genetic counseling programs and, ultimately, into the genetic counseling workforce.

Orphan Drug Development: The Process, Outcomes, and Future for the Treatment of Rare Diseases

Rare diseases individually affect a small portion of the population; however, collectively they affect around 8% of the United States population. Most of these diseases do not have a cure, and many have limited or no treatments available. Through the Orphan Drug Act of 1983, there are now incentives in place for those developing treatments for rare disease, such as tax breaks for companies and accelerated approval pathways. The path from research to Food and Drug Administration (FDA) approval for a drug is complex, with many barriers for both common and orphan drugs. Despite this, there are an increasing number of treatments available for rare disease. This paper summarizes the process of drug development, explores barriers, and reviews stakeholders and funding options for orphan drug development. It will provide examples of successful orphan drug development. This paper will also explore future directions of drug development, and the impact of new technologies on the landscape of orphan diseases. As science improves and we learn more about disease mechanism and treatment options, the number of therapies available to those affected by rare diseases will continue to grow.

Health Literacy Effects on Health-Related Needs of Pregnant Women and Their Caregivers †

Increased health literacy and fulfillment of informational needs are associated with improved health outcomes. The objective of this study was to further characterize the needs of pregnant women and their caregivers based on their level of health literacy, in order to better understand how to meet these needs.

This study re-examined data collected from a previous study at Vanderbilt University Medical Center. Pregnant women before 36 gestational weeks seen at Vanderbilt University Medical Center and their caregivers were enrolled. A mixed methodology, cross-sectional study was conducted by collecting information on needs, demographics, and health literacy scores from an interview, questionnaire, and Rapid Estimate of Adult Literacy in Medicine scale (REALM). Data was analysed using a previously validated need taxonomy, Wilcoxon Test and Pearson’s Test, Spearman P2 and redundancy tests, and logistic regression models.

Participants with adequate health literacy were more likely to have their needs met than those of limited or marginal health literacy (x2=4.08 adjusted p-value=0.043) and expressed more needs on average (11.3 v 7.7, p-value=0.04). Although no significant relationship was found between type of need and health literacy, some needs expressed by those with adequate health literacy were not expressed by those with limited or marginal health literacy.

Those with lower health literacy have fewer needs and are less likely to have their needs met. To address these needs, health professionals can ensure that information is provided to the level of the patient’s understanding and can provide a discussion of needs that may have not yet been anticipated.

Information and Support Resources for Whole Exome Sequencing

There has been a lot of research into whole exome sequencing (WES), as it is being increasingly used in clinic populations for complex disease. This study aimed to assess the resources used by patient families for support and information in the WES process. The participants were 26 parents (19% response rate) of pediatric patients from the University of Alabama at Birmingham whose children had undergone WES, and they were sent a retrospective survey about the resources they used. There survey responses were analyzed quantitatively, and free response answers looked for emerging themes. The most common information resource provided was a handout from a laboratory and 58% of participants did not seek further information. Most people did not receive support resources, but still felt supported in the process. Most participants utilized their ongoing support, like family or religion. Genetic counselors were a most utilized support based on availability and knowledge. Patient perception of support and information were strongly correlated (p<0.05) and believed to be markers that synchronize to create an overall positive experience. Genetic counselors should strive to create a dynamic of support and information during the WES process to better serve the patient experience.

Development, Implementation and Evaluation of a Whole Genome Sequencing Clinical Simulation

The increasing clinical implementation of Whole Genome Sequencing (WGS) brings us to the threshold of a genomics revolution, predicted to transform the medical model as it currently exists. In order to properly equip graduates with the skills that will be required of them upon entering workforce, genetic counseling (GC) training programs must address the unique challenges arising from the shift to the genomics era. Lack of access to experts in clinical applications of WGS, as well as a lack of available educational resources on the subject matter, have been cited by program directors as barriers to implementation of WGS-specific curriculum.

In order to address these barriers, a simulation case was developed under the guidance of experts in clinical WGS counseling, GC curriculum development, and simulation design. Learners completed pre- and post-simulation surveys. During the simulation, faculty observers evaluated learners for whether or not each demonstrated behaviors on a checklist specific to WGS results disclosure counseling. Immediately after the simulation, learners were given the same checklist to self-assess his/her performance before engaging in a debrief session with faculty observers.

On average, learners completed 81% of behaviors from the WGS counseling checklist, and each individual behavior was also demonstrated 81% of the time. Ultimately, learners tended to perceive the simulation as being highly realistic, found the resources to be helpful, and felt improved confidence in their abilities to perform WGS results disclosures. This simulation can be utilized in future GC training cohorts to meet the need for a highly impactful resource for WGS-specific curriculum. Replication of this educational tool in other programs, many of which may lack opportunities for exposure to clinical WGS and/or simulation development experts could provide a way to incorporate WGS-specific training into curriculum.

Evaluating a New Online Resource for Patients, Parents, and Caregivers Preparing for Pediatric Cancer Genetic Counseling

Patients and their parents often do not know what to expect or have unrealistic expectations when preparing for a genetic counseling appointment. Because of this, it can create challenges for the genetic counselor to accurately communicate the information that meets the patient’s needs, as well as incorporate psychosocial counseling. Furthermore, lack of clear expectations can cause difficulty coping with the genetic risks received because patients do not fully understand the purpose of the genetic counseling appointment. To attempt to better inform these individuals, a website for the Pediatric Cancer Genetics Clinic was recently created for patients and parents to utilize prior to their session. The purpose of this study was to assess patient, parent, and caregivers’ perceptions of the online resource so the website can be modified to best meet their needs. Moreover, the study also investigated differences in sociodemographic characteristics and habits of online use between website users versus non-users. The results indicated that there were no statistically significant differences between these two groups. Our results show the online resource can be utilized by a wide population and that factors studied do not contribute to the likelihood of individuals utilizing the website. Based on this data and parent suggestions, the website will be modified to include a web page written specifically for pediatric patients, contact information on the home page, and reconfiguring the website layout for easier navigation. Additional investigation is still needed on alternative interventions to best prepare patients prior to genetic counseling appointments.

The Effect of Genetic Counseling Mandates on Patient Choice to Pursue Appropriate Genetic Testing: A General Population Survey §

There is increasing availability of and interest in germline testing for hereditary cancer syndromes. Lynch syndrome is a hereditary cancer syndrome associated with an increased lifetime risk of colon cancer, uterine cancer, and other neoplasms. Knowledge of a germline genetic mutation associated with Lynch syndrome impacts cancer surveillance and treatment and should therefore be accessible to any patient who meets testing guidelines. There are many risks, benefits, costs, and other considerations associated with genetic testing, and improperly ordered, interpreted, or managed genetic testing can have a significant psychosocial and medical impact on patients and countless wasted healthcare dollars. Some health insurance payers have implemented a “genetic counseling mandate” policy requiring affirmation of the appropriateness of germline testing by a genetic counselor or similarly qualified provider prior to coverage of the cost of the testing. It is not clear whether genetic counseling mandate policies achieve their stated goal of eliminating inappropriately ordered germline genetic testing. The purpose of the present study is to investigate characteristics predictive of the likelihood to undergo clinically appropriate genetic testing for Lynch syndrome and the choice to include genetic counseling as part of the genetic testing process under the condition of a genetic counseling mandate.

Coverage by a private health insurance payer was associated with a significantly increased likelihood of undergoing clinically indicated genetic testing for Lynch syndrome. Delay of medical care due to cost was associated with a decreased likelihood to undergo genetic testing, with or without genetic counseling. Coverage by a high-deductible health insurance plan and delay of medical care due to cost were found to be predictive of a decreased likelihood to undergo genetic counseling as part of the genetic testing process. However, previous knowledge of genetic counseling predicted an increased likelihood to pursue genetic counseling. Finally, increasing wait time to an appointment with a genetic counselor is associated with decreasing likelihood to choose genetic counseling under a mandate policy.

Performance of the Alabama State Newborn Screening Protocol for Cystic Fibrosis in Racial and Ethnic Minority Populations*†Ω

Newborn screening for cystic fibrosis (CF) is universal in the United States, yet each state establishes its own protocol to maximize sensitivity in a given population. While several states have published data demonstrating reduced efficacy of CF newborn screening among racial and ethnic minorities, none of these states have a population similar in size and composition to Alabama. Therefore, the purpose of the present study is to evaluate the performance of the Alabama newborn screening protocol for cystic fibrosis among racial and ethnic populations in the state.

Data from patients referred to the Children’s of Alabama cystic fibrosis center following positive newborn screening were collected and analyzed via retrospective chart review for the first 7 years of the program (January 1st, 2008 to December 31st, 2015). African American newborns with cystic fibrosis were statistically more likely to have 1 or more CFTR variants not identified by newborn screening when compared to the Caucasian reference group. Additionally, African American newborns with CF were approximately 18 times more likely to be missed by newborn screening (OR 18.5, 95% CI: 1.8-191.2). Such discrepancies in newborn screening detection may serve to further cystic fibrosis related health disparities among racial and ethnic minority individuals. Further research is needed to better characterize CFTR variant spectrums in racial and ethnic minorities in order to more effectively screen these populations for cystic fibrosis. Health care providers need to be aware of such discrepancies in their evaluation of newborns with clinical signs and symptoms of CF, but with negative newborn screening.

Evaluation of Service Learning: A Genetic Counseling Course Experience*†

Service learning (SL) combines the goals of service and learning where they are equally valued and enriched by the other. Benefits of SL include development of a student’s social responsibility, leadership skills, multicultural awareness, communication skills, and dedication to community outreach. The effects of SL as a form of disability training are largely unstudied. The primary purpose of this study was to measure changes in attitudes towards community service and attitudes towards individuals with intellectual disability (ID) by surveying past and present genetic counseling students of the University of Alabama at Birmingham’s training program who did or did not participate in the newly established SL course.

The secondary purpose was to determine if they viewed SL as an effective way of meeting the goals set by the Accreditation Council for Genetic Counseling’s (ACGC) Practice-Based Competencies. In our findings, SL recipients demonstrated a more favorable outlook on the effects of community service and had more positive attitudes towards individuals with disabilities than those who had not experienced SL. Current students also exhibited positive changes in these same measures between pretest and posttest surveys. SL recipients agreed that SL met the standards set by ACGC. Additionally, they rated their experience as excellent and would recommend SL to future students. Recommendations to consider for a SL course were also provided. This research can be used to assess the usefulness of SL as an option for disability training in genetic counseling training programs and to help programs establish their own SL course.

The Duty to Warn At-Risk Relatives—the Experience of Genetic Counselors and Medical Geneticists*†#

Most genetic counselors and medical geneticists will experience patient refusal to warn an at-risk relative. When faced with such a situation, conflicting laws, professional guidelines, and ethical obligations may lead to confusion regarding whether a clinician has a duty to warn their patients’ relatives of genetic risk. Dugan, et al (2003) and Falk, et al (2003) surveyed genetic counselors and medical geneticists, respectively, to examine their clinical experiences with the conflict of duty to warn versus patient confidentiality.

This issue has become increasingly relevant as the actionability and breadth of genetic test results has arguably increased since 2003, and pertinent federal laws have been implemented which did not exist at the time of the publications. Using a merged version of the surveys designed by Dugan and Falk, the current study sought to understand if interim changes in the field of medical genetics have led to shifts in how clinicians are experiencing, and therefore reacting to, patient refusal to inform at-risk relatives. Compared to the majority of clinicians surveyed by Dugan and Falk, only one-third of medical geneticists and genetic counselors believed they had a duty to warn their patients’ relatives of genetic risk. In addition, only 8% (21/259) of participants believed current guidelines effectively address the issue of duty to warn. Similar to the results of Dugan and Falk, the majority of medical geneticists (59% 30/51) and almost half of genetic counselors (46%, 95/206) experienced patient refusal. Yet awareness of federal or state laws which regulate the disclosure of genetic information to at-risk relatives remains surprisingly low. These results suggest that because the conflict of duty to warn remains a common experience among genetics professionals, educational resources are needed to facilitate informed decision making. Furthermore, participants’ opinions of current policies and clinical decisions may guide future policies and professional positions.

An Analysis of State Newborn Screening and Parental Emotional Distress*§

Newborn screening (NBS) is a public health initiative that involves the screening of all newborns for a range of medical conditions. If left untreated, these conditions can cause long-term medical complications. NBS has evolved over more than forty years to become one of the largest genetic screening programs in the United States. This study involved collection of data from medical records of healthy, full term newborns who received false positive newborn screening results in the state of Alabama between January 1st 2015 and November 15th 2016. To assess the distress of parents receiving false positive results, data collection was followed by semi-structured interviews. Interviews were transcribed and coded, revealing several themes. The results of this study support that parents are unaware of the testing occurring and are equally uninformed about the possibility of false positive results.

Similarly, many parents report still feeling uninformed about NBS even after having experienced it. In keeping with previous studies, it was found that false positive NBS results lead to undue emotional distress. Although the amount of emotional distress varied, all parents interviewed expressed some level of distress. This study is the first of its kind to assess the emotional effect on parents of the NBS program in the state of Alabama and provides support for more of an educational and supportive role by obstetricians, pediatricians and genetic counselors. The study results emphasize the notion that there is a great need for evaluation of state NBS programs to educate and support parents through the NBS process.

Assessing Reproductive Risks for Recessive Conditions that Arise from Cancer Panel Testing*§

Several genes on cancer panels are not only associated with cancer predisposition but also with carrier status for recessive conditions. Other than the National Comprehensive Cancer Network’s broad recommendation for genetic counseling on these risks, there are no practice guidelines specifying how, when, or who should be having these discussions. Mets et al. (2016) assessed this by surveying cancer genetic counselors and found inconsistencies in practice.

This study aimed to further examine differences in attitudes and practices among genetic counselors, medical geneticists, and clinical oncologists regarding the best method of communicating these risks to patients. An anonymous electronic survey consisting of 37 items was sent to members of the National Society of Genetic Counselors, the American College of Medical Genetics and Genomics, and the American Society of Clinical Oncology. A majority of respondents had discussed reproductive risks with at least one patient before, generally supported discussion of these risks, and would support a practice guideline on this topic. A majority believed that laboratories should include risk information on both consent forms and results reports for cancer panels, however a survey of labs found that this information is not consistently included. Although the majority selected “genetic counselor” when asked which provider would ideally have responsibility to have these discussions, a majority of genetic counselors selected this choice but just over half of oncologists and exactly half of medical geneticists agreed (p=0.0016). There was a significant difference on whether pre-test or post-test is the best time to address risks, with most physicians choosing pre-test and most genetic counselors choosing post-test (p=0.0008). Attitudes captured here can inform practitioners’ potential considerations when ordering cancer panels or giving results of these tests. These results can potentially be used in the development of a more detailed practice guideline for providers involved in the genetic counseling of patients undergoing cancer panel testing.

Next-generation Sequencing Experience: Impact of Early Diagnosis of Usher Syndrome*†#

Usher syndrome (USH) is a genetic disorder characterized by congenital severe to profound hearing loss and vision loss (due to Retinitis Pigmentosa). The onset of vision loss varies between late childhood and adolescence. Historically, Usher syndrome has been diagnosed via onset of vision loss. Since 2011, genetic testing via NextGeneration sequencing panels, which include genes associated with hearing loss, have led to diagnosis of USH earlier in a child’s life. Genetic testing methods are essentially leading to diagnosis of USH before onset of vision loss. Few studies have assessed the psychosocial implications of a diagnosis of USH for affected individuals. Furthermore, there is a significant gap in the literature on the psychosocial implications to parents of children with USH.

Additionally, there have been no studies to date exploring the impact that diagnosing USH before vision loss onset has on affected individuals or their parents. The aim of this study was to assess the parental psychosocial implications, such as emotions and coping, of earlier diagnosis of USH via genetic testing compared to parents of children who were diagnosed later. Thirty-six participants were recruited through an online posting on the Usher Syndrome Coalition website. Two comparison groups were formed based on the method of diagnosis (i.e. genetic diagnosis vs. ophthalmologic diagnosis). Semi-structured interviews were recorded and transcribed. Comparison, using thematic and statistical analysis, of psychosocial impact on parents of children diagnosed early (genetic testing) and later (ophthalmologic findings) was completed. There were no statistically significant differences in emotions between the two groups of participants, suggesting that earlier diagnosis via genetic testing does not lead to increased anxiety or psychosocial issues for parents. Earlier diagnosis allows parents to process and prepare the child for independence throughout life. Additional themes identified from parent interviews and their application to patient care are described.

Rett Syndrome: A Learning Module*

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental genetic condition characterized by regression of developmental milestones, growth abnormalities, partial or complete loss of hand use communication, gait difficulties, and hand stereotypies. RTT occurs in approximately 1/10,000 live births. An early diagnosis can improve quality of life; however, the average age of diagnosis is 4 years. A learning module describing the features and clinical diagnostic criteria of RTT was developed and distributed to pediatric residents. A pre and post-survey was used to determine if the learning module increased residents’ familiarity with RTT. Learning increased for all users despite their year in residency or previous experience with RTT. All participants improved their awareness of RTT features between the pre- and post-survey (p-value 0.0392). Females’ scores improved more than males (p-value 0.0009). This learning module has proven to be an effective tool and hopefully will enable users to make a timely diagnosis in their future practice.

Oncologists’ Awareness, Understanding and Usage of Germline NGS-based Multigene Panel Tests for Heritable Cancer Syndromes in Patients and Their Families*†

Germline NGS based multigene panels that test for hereditary cancer susceptibility are a newer technology that present challenges. Previous surveys of genetic counselors and other healthcare professionals including physicians (not stated to be oncologists) indicated that clinical experience with these tests was limited, and that greater education was necessary on these tests. Experiences or opinions of oncologists with germline NGS based multigene panel tests have not been reported. We conducted a survey of medical oncologists’ to assess their awareness, understanding, and usage of multigene tests.The survey was distributed via email to members of the American Society of Clinical Oncology. Our data suggest that those in practice for a longer duration were more comfortable with ordering NGS-based multigene panel tests and considered them more useful. Our hypothesis was validated in that medical oncologists are generally not prepared to interpret results and counsel patients or family members based on germline NGS-based multigene panel tests. The majority of oncologists (50.7%) were not comfortable making cancer surveillance recommendations for family members of patients when test results were inconclusive. Only 18.8% of participants referred patients for pre and post-test genetic counseling, although approximately two-thirds of participants agreed that patients undergoing testing should have pre-test and post-test counseling. These results suggest a need for better education on NGS-based multigene panel tests, and better access to genetic counseling services.

Do Demographics Influence Parental Interest and Support for Whole Genome Sequencing in the Healthy Newborn Period?*†

Whole genome sequencing (WGS) is a clinical technology that has gained scientific interest and public attention for its ability to reveal an individual’s complete genetic profile. Historically, it has been used as a clinical last resort testing strategy, however some predict the eventual replacement of traditional newborn screening with WGS. Information regarding parental interest in the potential use of WGS in the healthy newborn population is limited. The purpose of this study is to analyze parental interest in use of this technology for offspring in an under represented population and identify demographic factors that might influence parental interest. An educational brochure and paper-based survey were distributed in two high-risk prenatal care clinics in Alabama. Overall interest in WGS, as well as evaluation of the types of health conditions parents would want information on were assessed. Demographic factors were collected and demographic drivers of interest, including socioeconomic status (SES), were analyzed. Of 66 participants, more than 70% of participants were of lower SES. Despite this, overall parental interest in WGS for their healthy newborn was high, with 86.4% of participants either being “somewhat interested” or “very interested”. No statistically significant differences in interest by SES or any other demographic factor were identified. Furthermore, there was no difference in the amount parents would be willing to pay for this technology. Our findings suggest that future participation in WGS for healthy newborns would be high. Furthermore, our findings provide evidence to support that interest is high despite low socioeconomic status, which is contrary to the long-held belief that interest in genetic testing is lower in minorities.

Factors That Influence the Completion of Predictive Testing for Huntington Disease*§†

Huntington disease (HD) is an inherited, adult-onset neurodegenerative condition. Predictive testing for HD is available to identify at-risk individuals that will develop symptoms. Protocols are in place for this testing to assess patient readiness and reduce patient distress. This protocol includes genetic counseling, psychological evaluation, and neurological evaluation. In December 2013, UAB revised the testing protocol to involve less on-site appointments. A chart review and patient survey were used to evaluate completion rates of predictive testing for HD at UAB before and after the protocol change, as well factors that influence testing completion (distance from Birmingham, motivation for testing, etc.). The hypotheses were that the completion rate would be higher in those who initiated testing after December 2013, those who live closer to Birmingham, and those who underwent testing for family planning. The trend was that more people completed the testing before the protocol change, and a higher percentage of those who live >150 miles from Birmingham completed testing. However, there was no significant difference in completion rates based on any of the factors observed. Larger studies are needed to determine the best protocol for predictive testing for HD. Included in this manuscript is a sample data collection form that could be used at other sites to further clarify factors that influence the completion rates.

Incorporation of a Genetics-based Information Module Into Standardized Diabetes Patient Education*§†#

The current prevalence of diabetes is a significant public health issue, and multidisciplinary prevention efforts are warranted. Genetics risk assessment and education is a newly investigated approach to increase understanding of diabetes etiology and inspire behavior modification. This study investigated the effectiveness of an educational module created to improve understanding about the genetics of diabetes. Participants completed a pre-test survey to assess three domains: 1) knowledge about diabetes etiology and genetic testing, 2) motivation to adopt healthy lifestyle behaviors, and 3) interest in genetic testing for diabetes. Participants viewed an educational module, and then completed a post-test survey to re-assess the domains. Participants increased knowledge about the genetics of diabetes (p<0.0001) and testing (p=0.0184), demonstrated motivation to adopt healthy behaviors (p<0.0001), and decreased interest in genetic testing (p=0.0522) after viewing the educational module. The results suggest that the educational module was effective in increasing understanding of diabetes and increasing motivation to adopt healthy behaviors. As the complex interaction of genetics and the environment is further elucidated, genetics professionals will likely play a larger role in risk assessment, genetic counseling, and diabetes education with the goal of facilitating a translational approach to diabetes research, prevention, and management.

Clinical and Pathologic Comparison of Sporadic and Familial Renal Cell Carcinoma*§

Renal cell carcinoma (RCC) is the 8th leading cause of cancer and 3% of affected individuals also have a positive family history. In an attempt to identify familial and sporadic cases of RCC, Mayo Clinic’s renal mass registry was queried. Patients with a clinical diagnosis of a syndromic cause of RCC were excluded and familial cases were sequenced to confirm the lack of mutations in syndromic RCC genes. The resulting frequency of nonsyndromic familial RCC in this population was 3.5%.

To determine whether familial cases could be differentiated from sporadic RCC cases, the demographic, clinical, and pathologic features were examined. Comparison of these characteristics failed to exhibit significant differences between groups. This finding may be a consequence of small sample size or shared risk factors among relatives with RCC.

Implementing Service Learning In Genetic Counseling Training

Service learning (SL) has been shown to have a positive impact on students’ personal outcomes, academic learning, career development, and community relationships. Information regarding the integration of SL into genetic counseling training programs is limited.

This study aims to assess the prevalence of SL in genetic counseling training programs as well as program directors’ attitudes towards SL. Approximately 35% of genetic counseling programs that responded to an online survey have SL as part of their curriculum, and 76% consider SL to be very or somewhat important in genetic counseling training.

This data will be used to confirm the relevance of and interest in SL and provide guidance for integrating SL in genetic counseling training curricula.

Planning, Implementation, and Evaluation of a New Clinical Simulation: Psychiatric Disease Case*†

Psychiatric illness is common and has a complex genetic and environmental etiology. Despite the fact that genetic counseling can benefit individuals and family members affected by psychiatric illness, genetic counselors often feel unprepared or unqualified to address these conditions. Therefore, a clinical simulation was created, implemented, and evaluated. The scenario required genetic counseling students to address disease etiology and recurrence risk for a standardized patient with bipolar disorder.

Evaluations were completed before and after the simulation. Post-simulation comfort level increased an average of 65.9% for all participants. Averaged scores on content knowledge reflected no improvement. Overall, experiencing a simulation addressing psychiatric illness increased the comfort level of participants, thereby encouraging them to engage with an underserved population.

Parental Perspectives of ArrayCGH Educational Tool*†§

Array comparative genomic hybridization (arrayCGH) is an advanced genetic test that can uncover many results. However, healthcare providers commonly hesitate to address all possible results with parents before testing children due to the sensitive nature of some potential results. An educational pamphlet describing arrayCGH and a survey were created and distributed to parents of children who had arrayCGH. Parental knowledge and opinions about their experience with arrayCGH were evaluated.

Results demonstrate parents want pre-test knowledge of all potential results and felt prepared for all results by the pamphlet. Overall, the pamphlet appeared to increase parental understanding of arrayCGH.

Taking on Life After Cancer: Assessing the Impact of a Childhood Cancer Survivorship Clinic

Limited information is available regarding the effect of cancer survivorship clinics on survivors’ understanding and perception of their cancer experience.

This study examined the impact of attendance at a survivorship clinic on patient knowledge of diagnosis, treatment, and late effects, as well as patient opinions regarding information provided, severity of treatment, and support resources. Pre-clinic and post-clinic surveys were completed. While no statistically significant changes to patient knowledge or opinions were reported given the small sample size (n=8), insight to patients’ specific understanding and opinions of their cancer diagnosis, treatment, and potential for late effects was provided. These results offer valuable insights regarding the goals of this specific clinic from its teenage clients.

Psychosocial Factors Affecting Uptake of Preimplantation Genetic Diagnosis and/or Screening

Preimplantation genetic diagnosis and screening (PGD/S) are procedures used with in vitro fertilization to test embryos in certain high-risk families before they are implanted. Psychosocial factors such as religious beliefs and previous experience with an affected family member have been shown to alter perceptions of this testing option; however, whether these perceptions affect uptake of PGD/S is unknown.

The present study surveyed patients considering PGD/S to determine whether significant differences exist among psychosocial factors between those choosing for and against pursuing this testing. Religious beliefs, previous experience with an affected family member, and the desire to achieve pregnancy are shown to influence the decision-making process in certain individuals. This knowledge may assist healthcare providers in facilitating decision-making regarding these procedures.

The Implementation and Evaluation of a New Undiagnosed Diseases Program at the University of Alabama at Birmingham*

One can imagine that having an illness whose name is eluding physicians can be frustrating. The Undiagnosed Diseases Program (UDP) at the University of Alabama at Birmingham (UAB) was established to provide support to those undiagnosed and to aid in the discovery of new diseases. A survey was created to collect patient and caregiver feedback regarding satisfaction with the application and evaluation process. Feedback was also solicited about their experience of living without a diagnosis and the impact it has had on their lives. The results indicate that respondents were not involved in the UDP application, they were satisfied with their evaluation, and there are unmet needs in this population, which may help inform the development of future programs.

The Implementation of a Multidisciplinary Care Clinic for Von Hippel-Lindau Disease (VHL) at the University of Alabama at Birmingham (UAB)*†

Von Hippel-Lindau disease (VHL) is a tumor susceptibility syndrome characterized by hemangioblastomas, pheochromocytomas, endolymphatic sac tumors, and an increased risk of developing renal cell carcinoma and pancreatic cysts. Based on a review of the literature, we expect that multidisciplinary care will enable more thorough screening for tumors, more timely and appropriate interventions, the identification of at-risk family members, and comprehensive, coordinated care. Here we describe the process of becoming a VHL Clinical Care Center through the VHL Alliance, the approach used to identify specialists for our clinic, and our model for providing care. Our experience may help inform other providers who are looking to establish or improve a similar multidisciplinary clinic, which could be applied to management of various diseases.

Implementation of Crisis Intervention Training in Genetic Counseling Training Programs*§†

Crises in medical settings disrupt coping skills and can lead to depression and even suicide. Genetic counselors, healthcare providers who communicate genetic risk information and provide support, may encounter patients in crisis. The Accreditation Council for Genetic Counseling (ACGC) requires crisis intervention training (CIT) in genetic counseling training programs. However, many programs lack a dedicated CIT curriculum, and content for this training is not specified by guidelines. This study surveyed practicing genetic counselors to inform curricula for CIT in training programs. Over 88% of respondents agreed with the ACGC and supported the addition of dedicated CIT (79% had not received this as part of their training). The most desired format was an in-person class or included in clinical rotations, and the preferred content included how to recognize individuals in crisis or at suicide risk, how to calm or diffuse a patient in crisis, how to develop a suicide safety plan, and how to navigate the referral network within an institution. The majority of participants felt genetic counseling patients were not being adequately referred for mental health counseling. The reported use of CIT skills varied by discipline, with prenatal and laboratory counselors reporting the most frequent use of these skills. These findings may impact program curricula and counseling referrals.

Assessing Speech and Language Outcomes in Children with Cochlear Implants and GJB2 Mutations*§

GJB2 mutations account for about half of all autosomal recessive, nonsyndromic hearing loss (NSHL). The literature is inconclusive in regards to speech and language (SL) outcomes for this population after cochlear implantation. The goal of this study is to correlate GJB2–related NSHL with SL outcomes in our cochlear implant (CI) population. We reviewed records on children with NSHL who received a new CI at Children’s of Alabama before age four years and whose GJB2 status is known. We found that those with GJB2-related HL do show better SL outcomes after cochlear implantation compared to individuals with non-GJB2-related HL. Overall, GJB2-status does impact SL outcomes, although more research is also needed to define the magnitude and impact of other factors, including parental noncompliance.

Finding a Balance in Prenatal Diagnosis: Decision Making, Social Support and Privacy in Prenatal Diagnosis*

The ability to diagnose genetic conditions prenatally has revolutionized reproductive options for couples at risk of having children with genetic conditions. There are many differences among these options; therefore, many personal factors may affect a couple’s decision or preferences regarding prenatal diagnosis. By assessing at-risk couple’s opinions on different testing options, this study found that many factors that play a role in decision making and these factors differ between prenatal testing methods. Additionally, social support and privacy are not unmet needs, however, they are valued when undergoing prenatal diagnosis. These results highlight the importance of informed involvement of health care providers in the decision making process for prenatal testing.

Neurofibromatosis Type 1 Patient User Manual*

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder affecting 1 in 3000 individuals. NF1 manifests with tumor growth in the tissues surrounding nerves. High quality patient education materials can play an effective role in the self-management of a chronic condition. This is especially important for patients who are seeing multiple specialists and sometimes needs to serve as their own advocate for their rare condition. While there are already patient education materials on NF1, there is not one comprehensive product available that is written in patient-friendly language. Our goal was to create a comprehensive, patient-friendly ‘user manual’ for NF1 specific for the patients seen at the University of Alabama at Birmingham Neurofibromatosis Clinic. People who have been affected by NF1 took part in a discussion allowing input from the target audience to be incorporated into the production of the user manual. Data gathered from the discussion was grouped into themes, which was integrated into the manual. The user manual will be made available to patients with NF1 at the UAB NF clinic, and may serve as a template for other clinics.

Contribution of Family History on the Incidence of Spina Bifida*§†

Spina bifida affects 1,500 newborns in the United States each year. The impact of family history on incidence of spina bifida has not been documented since before 1998 – when manufacturers began fortifying wheat products with folic acid. This study evaluates the current impact of family history on incidence of spina bifida, documents maternal exposures, and assesses how many parents have discussed genetics and spina bifida with a healthcare professional. It is hypothesized that there will be an equal contribution of maternal and paternal family history, that exposures will be similar to previous reports, and that parents of younger children will be more likely to have discussed genetics with a healthcare professional. This study recruited members of the Spina Bifida Association of Alabama and parents attending the Spina Bifida Clinic at Children’s of Alabama. From September to December of 2012, 41.2% of recruited parents completed the online survey. Overall, 27.3% of families with one child affected with spina bifida had a positive family history of neural tube defects, with more paternal than maternal history reported. Sixty percent of families had discussed genetics and spina bifida with a healthcare professional. Mothers taking folic acid in the first trimester and anytime after conception were more likely to have a younger child with spina bifida. This study found a higher incidence of family history, particularly paternal family history, than what has previously been reported and is the first of its kind to document frequency of discussions of genetics and spina bifida with a healthcare professional.

Patient Experience with Exome Sequencing*†

Dupuytren’s disease is a rare, progressive disorder that affects the growth and proliferation of fibroblast cells and results in the shortening and thickening of the connective tissue in the hands and feet. While cases of familial Dupuytren’s disease (which seems to follow autosomal dominant inheritance) exist, no single causative gene has been discovered. Exome sequencing is a relatively new test that is currently being used to identify novel genes that are responsible for diseases like Dupuytren’s disease. To date, few studies have been published regarding patients’ experiences with exome sequencing. It is anticipated that their experiences being involved in this type of testing may be unique due to the volume of data generated from the test and the potential for incidental findings. To further investigate this, fourteen individuals from a single family with Dupuytren’s disease were enrolled in an exome sequencing project to identify a causative gene. All participants were interviewed about their experience with exome sequencing. This project included two phases: audio recording of the initial consent process and of a follow-up phone interview. The purpose of this project was to qualitatively analyze the patients’ experiences with exome sequencing to enlighten future exome sequencing studies. It was hypothesized that the participants would be frustrated by the length of the informed consent session, concerned about the potential for incidental findings, and worried about issues related to the privacy of their genetic information. During the informed consent process, some patients did confirm concerns about incidental findings and genetic privacy. Additional unexpected themes also emerged.

After the phone interview, patients’ opinions about the length of the process were mixed. Despite not identifying a causative gene for Dupuytren’s disease, participants were very pleased with their participation in the research project and described various motivations for their participation. It is our hope that information gained from these participants’ experiences will be valuable for other potential participants, researchers, and medical professionals as they design their research studies and informed consent documents.

How to Develop an Educational Tool on Hereditary Breast Cancer for Minorities*§

Women with hereditary breast cancer have a lifetime risk of up to 87% to develop breast cancer. Education is essential for women to be aware of the risk factors and appropriate screening guidelines for hereditary breast cancer. However, traditional forms of education fail to resonate with the African American community.

This study aimed to discover an effective educational strategy to disseminate hereditary breast cancer information to the African American community. Two separate focus groups were conducted with organizations that have prior experience in health education amongst the African American population. One group completed a survey about effective ways to educate the African American community. The focus groups and surveys were analyzed and categorized to reveal frequent recommendations or themes. Participants stated that hereditary breast cancer education is lacking in the African American community. Recommendations for effective education included using personal interactions and interactive activities. Education conducted through a source that is trusted and established in the community was another theme. Partnering with current educational programs was a common suggestion for the purpose of integrating hereditary breast cancer information into current program agendas. Importance was also placed on formulating a simple, clear message that could be adapted to existing forms of breast cancer education for minorities. In order to effectively disseminate hereditary breast cancer information to the African American community, educators should use a personal, interactive approach that conveys a simple message through established community groups and programs. Effective education dissemination has the potential to increase hereditary breast cancer detection in the African American community, which could lead to earlier detection and prevention of cancer.

Metabolic Computer-Based Tutorial for Healthcare Professionals*

Inherited metabolic diseases are individually rare, but together represent a common class of disorders. They have life-threatening consequences if not diagnosed and treated in a timely manner. Newborn screening is a public health initiative aimed at identifying newborns with inherited metabolic disease early in life; however, symptoms can still present before these results are available. Educating healthcare professionals about metabolic conditions can help prevent sequelae from mismanaged or misdiagnosed events. Medical continuing education can be challenging due to hectic schedules and long hours. Computer and web-based methods are helpful as users can learn in any setting and at any pace. A computer-based tutorial was created for healthcare professionals to learn about the presentation, testing, diagnosis, treatment, and management of individuals with metabolic disease and included 10 case presentations. A pre and post tutorial quiz to assess knowledge was completed by 11 individuals, first and second year genetic counseling students. First year students demonstrated a change from pre to post tutorial scores of 1.7 points. Second year students demonstrated a change of 1.3 points. These differences between pre and post tutorial scores for both classes were statistically significant (p=0.013). The average post score was higher than the pre score for both groups. Additional changes can be made to improve the tutorial including expansion of cases and involving more participants from varied healthcare backgrounds. A computer-based tutorial can increase knowledge of inherited metabolic conditions for healthcare professionals. In the future, this tutorial could be used for continuing education in multiple groups.

Vitamin D Receptor Polymorphisms and Non-Melanoma Skin Cancer Risks in an Alabama Population*

The American Cancer Society’s (2012) most recent statistics for non-melanoma skin cancer estimates 3.5 million cases. Gene changes may make an individual more susceptible to isolated non-melanoma skin cancer [which includes basal cell carcinoma (BCC) and squamous cell carcinoma (SCC)]. One of those genes is the vitamin D receptor (VDR). Polymorphisms in the VDR genes are thought to contribute to the level of protection an individual may have against certain types of skin cancer (Denzer, Vogt, & Reichrath, 2011). Few studies have been published about VDR gene polymorphisms and the associated risk for BCCs and/or SCCs (Han, Colditz, & Hunter, 2007; Kostner et al, 2012; Lesiak et al, 2011). The purpose of this study was to discover whether certain VDR gene polymorphisms, Apa1, Bsm1, Taq1, and Fok1, are associated with an increased risk of BCCs and/or SCCs in an Alabama population. Forty-one participants were recruited at the UAB Dermatology Clinics, filled out a questionnaire, and submitted a blood sample. The genotyping results, cancer diagnosis, and demographics were analyzed to detect relationships. The results demonstrated that there was not a statistically increased risk for SCCs or BCCs based on the type of VDR genotype for Taq1. Of note, even with such initial small numbers for our study, our numbers did approach significance (p=0.0671). In comparing our first genotypic results to the literature, the Taq1 results were inconsistent. Two previous studies, Lesiak et al. (2011) and Kostner et al. (2012), revealed an increased risk for BCC for those with certain Taq1 genotypes. While our study did not, there was a trend toward significance. Our finding with this first genotype is encouraging and prompted us to extend enrollment. If we group the non-melanoma skin cancers together (BCC and SCC), the difference of genotype compared to controls is significantly different (p=0.0257). From this study, further analysis and research was supported at UAB.

Also of note, a statistically significant finding for one of the confounding demographic factors we included showed that the use of sunscreen among the participants with SCCs was related to their genotype. For those with SCCs, those that “always” wore sunscreen were most likely to be those with the CC Taq1 genotype. With this exception, there were no other relationships found among cancer diagnosis, genotypes for Taq1, and demographic factors.

Potential Determinants of Anxiety After a Positive Maternal Serum Screen Result for Trisomy 21*†

This study aimed to investigate potential determinants of maternal anxiety following a positive screen result for Down syndrome. Studies have been conducted to identify contributing factors to maternal anxiety during the prenatal screening process, such as referral reason and disclosure methods. It was hypothesized those with more experience with the condition would have less anxiety concerning a positive result. Participants completed an anonymous questionnaire concerning demographics and familiarity with Down syndrome as well as the State-Trait Anxiety Inventory, an anxiety measurement tool. Results indicate that those familiar with Down syndrome had a lower state anxiety than those who were unfamiliar with the condition (p = 0.0012). Other factors besides familiarity were assessed. Interestingly, participants who have other children had lower state anxiety on average. Further studies should confirm this data due to small sample size (n=47). A confirmed correlation would enable genetic counselors and others to anticipate patients that may be especially anxious regarding a positive result, and suggests an important role for education about the condition.

Are health care professionals able and willing to incorporate direct-to-consumer genetic test results into patient care?*§

Direct-to-consumer (DTC) genetic testing is any genetic test that is ordered without the involvement of a health care professional. There has been much debate over the past few years on how this new technology is impacting consumers and how to address the challenges it creates. The purpose of this study was to explore the awareness and perceptions of health care professionals at the University of Alabama at Birmingham regarding DTC genetic testing. A total of 761 physicians with medical degrees (M.D.) were invited to complete an online survey that asked questions about three types of DTC test results (disease risk, carrier testing, and pharmacogenetic drug response). There were 122 responses that were used for the final analysis. Approximately two-thirds of respondents (68.9%) were aware of DTC genetic testing. Pharmacogenetic test results were the most likely to be considered clinically useful (48.3%), beneficial to patient care (43.9%), and incorporated into the patient’s medical record (57%). Respondents reported that they were slightly more likely to be able to interpret carrier testing results compared to disease risk and pharmacogenetic test results. The majority of respondents who did not feel confident interpreting a particular test result said that they would refer the patient to another health care professional. This study gives insight into how DTC genetic testing is understood by physicians and integrated into the health care system. It will be important for future studies to investigate the real world application of how DTC genetic test results are affecting patient care.

Genetic Counseling Protocol for Exome Sequencing: Explaining the Unforeseen*

Exome sequencing is an emerging genomic technology with great potential to improve genetic diagnosis, medical management, and expand overall knowledge of disease etiology. Use of genomic technologies is becoming mainstream in research and clinical practice given a steady decline in cost and improved detection rate. Clinical interpretation and utility of exome sequencing results brings unique challenges due to secondary or incidental findings, variants of uncertain significance and other limitations of this technology. In current literature, no published guidelines exist explaining the informed consent and genetic counseling process for exome sequencing. Numerous questions remain unanswered surrounding genomic testing and how this information should be presented to the patient. The objective of this study was to elicit feedback from experts in the field of genetics in reference to key elements of the informed consent prior to exome sequencing. A survey was designed targeting genetic counselors, MDs, and PhD geneticists familiar with exome sequencing. One hundred and seventy three participants completed the open response survey, from which three main focus areas were identified: patient and medical views on exome sequencing, unexpected results, and genetic information and disc1imination. This report of information gathered from experts in the field can aid in an effort to create a comprehensive standardized protocol for genetic counseling that can be used in a setting for exome sequencing.

Characterizing the Unique Needs and Experiences of Adoptive Parents of Children with Cleft Lip and Palate*†#

Oral clefting is one of the most common birth defects worldwide, with an incidence of 1/500 to 1/700 births. Children with a cleft lip or palate face potential complications throughout their lives including issues with feeding, speech, and aesthetics. There are a significant number of internationally adopted children with clefting in the United States. There are numerous reports on the experiences of parents of children with cleft and, separately, of adoptive parents. However, to our knowledge no one has yet studied the combined experience of being an adoptive parent of a child with a cleft. Our pilot study, conducted through the Cleft Lip and Palate (CLP) Clinic at Children’s Hospital of Alabama, seeks to characterize the experiences of adoptive parents of children with clefting. The survey used included demographic as well as open-ended “experiential" questions. Data reveal that the majority of participants’ children were female, from China, had bilateral cleft lip and palate, and had no family history information available. A significant proportion of these children had additional health concerns and/or had been diagnosed with developmental delay. The experiential questions were analyzed for themes including knowledge about clefting, preparedness for raising a child with cleft, and challenges they have faced. Findings suggest that the majority of parents sought out a child with special medical needs and overall felt prepared for raising a child with cleft. Common reported challenges included speech difficulties and the need for additional surgeries, while the International Adoption Clinic and the staff of the CLP Clinic were reported as helpful resources.

A Medical Needs Assessment of Individuals with Ehlers-Danlos Syndrome*

Individuals living with the group of heritable connective tissue disorders known as Ehlers-Danlos syndrome (EDS) must cope with a variety of symptoms ranging from mild to debilitating, many of which require health care from providers that are unfamiliar with the condition. In order to identify areas of needs related to managing symptoms and obtaining adequate medical care, a needs assessment questionnaire was made available to individuals with all types of EDS in the United States and internationally. A total of 388 participants ages 19 and older with self-reported diagnoses of EDS completed a survey. Survey items were chosen to assess satisfaction levels in the categories of pain management, joint stabilization, interactions with health care providers, and access to health care. Results show that 42.4% (n=165) are having problems paying for the medical care they need; 78.6% (n=305) find that prescription medication helps relieve pain; 66.2% (n=257) of participants wished their doctor would take their complaints about pain more seriously; and 24.0% (n=93) are pleased with the resources they receive from their healthcare provider. Perceptions of healthcare provider knowledge varied by specialist type (p<0.0001). Our results show that many individuals with EDS require better informational resources, and more referrals to specialists who are knowledgeable and comfortable managing EDS.