BMN Blog

OCT 31
Recruitment under way for new Alabama genetics initiative

Full scale recruitment is under way for the Alabama Genomic Health Initiative (AGHI), a partnership of the University of Alabama at Birmingham (UAB), HudsonAlpha Institute for Biotechnology and Children’s of Alabama. Funded by a $2 million appropriation from the Alabama legislature to UAB, the AGHI is one of the nation’s first statewide efforts to use genomic analysis to identify those at high risk for genetic diseases.

The project will result in immediate health benefits to some participants and in the long term will help to address problems of chronic disease and rising health care costs in the state. It will also position Alabama as a leader at the forefront of 21st century medicine.

Since the May conclusion of a pilot project that recruited the first 100 participants, the AGHI has opened widespread recruitment at UAB Kirklin Clinic and Medical Towers in Birmingham. Over a five-year period, the goal is to increase the number of participants to more than 10,000. The recruitment process takes about 30 minutes and participants have the opportunity to learn about the AGHI by interacting with patient navigators. The navigators explain the benefits and responsibilities of participation in the AGHI, and, if they choose, participants can join at that time. A simple blood draw is done to collect DNA.

Two major categories of participants will be recruited. Most will be generally healthy, or will receive medical care for one or more conditions not recognized to have a genetic cause. This is referred to as the “population cohort.”  The other group will be those with a recognized genetic issue whose origin is undetermined. Both groups will provide blood samples that will undergo genomic analysis at HudsonAlpha in Huntsville.

Participants in the population cohort 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 actionable genes by the American College of Medical Genetics and Genomics. The 59 genes are those that are known to contribute to disease and for which the potential for prevention or treatment exists. They include genes 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 genes are recognized that can lead to improvements in medical care for an individual being tested.

Participants who test positive for 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 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. These will include children recruited from the Genetics Clinic at Children’s of Alabama as well as the North Alabama Children’s Specialists office in Huntsville. 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.

All of the genetic information of consenting participants will be saved in a database for research use utilizing the combined resources of the UAB-HudsonAlpha Center for Genomic Medicine, UAB Informatics Institute, the UAB Center for Clinical and Translational Science, and the Hugh Kaul Personalized Medicine Institute.

Additional recruitment sites around the state will be added as the initiative progresses.

To learn more about the Alabama Genomic Health Initiative please visit To participate, call 1-855-462-6850.

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