Roger Smalligan, M.D.Recruitment for the Alabama Genomic Health Initiative is underway in Huntsville. The AGHI, a collaboration between the University of Alabama at Birmingham and HudsonAlpha Institute for Biotechnology, launched last summer in Birmingham, and teams are now recruiting participants at the UAB Huntsville Regional Medical Campus.
The AGHI is one of the nation’s first statewide efforts to harness the power of genomic analysis to identify those at high risk for genetic disease. It will recruit a diverse group of participants from every county in Alabama and provide genomic analysis and interpretation to this group free of charge. In its first year, AGHI recruited nearly 2,000 individuals. The goal will be to increase the number of participants to more than 10,000 persons over five years.
“This is a monumental undertaking that has profound implications for the treatment and prevention of disease for the residents of our region and all of Alabama,” said Roger Smalligan, M.D., associate dean of the UAB School of Medicine Huntsville Regional Medical Campus. “The value of genomic information is becoming an integral part of precision medicine in Alabama.”
“AGHI places Alabama and Huntsville at the center of the revolution to use genetic data to help understand the risk of disease and to find new therapies,” said Greg Barsh, M.D., Ph.D., faculty investigator at HudsonAlpha and co-director of the AGHI. “Researchers working on finding cures to conditions like diabetes, heart disease, epilepsy and cancer will be able to utilize knowledge from these data to identify genetic factors that predispose people to these diseases as well as rare disorders — all with the ultimate goal of developing new approaches to prevention, diagnosis and treatment.”
Those interested in learning more about AGHI can visit the UAB Huntsville Regional Medical Campus, 301 Governors Drive Southwest. The process to join takes about 45 minutes. Participants will have an opportunity to learn more about AGHI by interacting with patient navigators, who will explain the benefits and responsibilities of participation in AGHI. Participants can choose to join at that time. A simple blood draw will be done to obtain DNA, and a short family health history is submitted.
| In its first year, AGHI recruited nearly 2,000 individuals. The goal will be to increase the number of participants to more than 10,000 persons over five years. |
The majority of participants in the initiative will undergo a genotyping array test, assessing some 650,000 identified genomic biomarkers. The genotyping test will look for the presence of variants in 59 specific genes, referred to as medically actionable by the American College of Medical Genetics and Genomics. The genetic variants within these 59 genes are those that are known to contribute to disease and for which the potential for prevention or treatment exists. They include genetic variants such as BRCA1 and BRCA2, which are associated with a genetic risk of breast and ovarian cancer. It is expected that this list will change over time, as new genetic variants are recognized that can lead to improvements in medical care for an individual being tested.
Participants who test positive for variants of one of the 59 genes on the ACMG list may consent to receive that information through genetic counseling and can consent to have it shared with their primary medical provider. Referral to appropriate prevention strategies or treatment will be provided both to the participant and through the primary care physician or a specialized provider.
Participants with signs of a genetic condition of undetermined origin will receive a more extensive evaluation, known as whole genome sequencing. Analysis and interpretation of those results will also be communicated to patient/parents and his or her primary medical provider, and participants will be linked to appropriate medical care.
Participants have the option to share de-identified data from their participation. Such data will be saved in a database for research use utilizing the combined resources of the UAB-HudsonAlpha Center for Genomic Medicine, UAB Informatics Institute and the Hugh Kaul Precision Medicine Institute.
In addition to Huntsville, participants can also enroll in Birmingham at UAB’s Kirklin Clinic and Medical Towers locations. Additional recruitment sites around the state will added as the initiative progresses.
Learn more about the Alabama Genomic Health Initiative at www.aghi.org. To participate, call 855-462-6850.