The University of Alabama at Birmingham (UAB) www.uab.edu has launched the Alabama Genomic Health Initiative (AGHI) in partnership with the HudsonAlpha Institute for Biotechnology http://hudsonalpha.org.
The project is being funded by $2 million in appropriations from the Alabama legislature. The funding will help UAB support one of the nation’s first statewide efforts to harness the power of genomic analysis. The plan is to help identify those individuals at high risk for genetic disease and provide for continuing research into genetic contributors to health and disease.
“This initiative could be transformative for the state,” said Selwyn M. Vickers, MD., Senior Vice President for Medicine and Dean of the UAB School of Medicine www.uab.edu/medicine/home. “We will use the knowledge gained from the AGHI to begin to uncover more undiagnosed diseases and we will potentially be able to rewrite our understanding of the burden of disease on our population.”
The AGHI will recruit a group of about 2,000 participants from every county in the state who will provide a DNA sample from a simple blood draw. Over a five year period, the goal is to include genetic information on more than 10,000 individuals.
The AGHI will provide genomic analysis and interpretation to this group free of charge. For some, the results will indicate an increased risk for disease where preventive treatments exist. These participants will receive genetic counseling and be linked to appropriate medical care.
It is anticipated by Bruce R. Korf, MD., PhD, Chair, of the UAB Department of Genetics www.uab.edu/medicine/genetics, that individuals who choose to participate will fall into one of two major categories.
Most will be generally healthy or receiving medical care for one or more conditions not recognized to have a genetic cause. This group’s blood samples will undergo a genotyping array test, assessing some 50,000 identified genomic biomarkers.
The other smaller group will present a recognized genetic issue where the origin is undetermined. Participants with a genetic condition of undetermined origin will receive a more extensive evaluation known as whole genome sequencing to be conducted at HudsonAlpha.
If the analysis and interpretation of the results involves children, the information will be communicated to the parents and then to primary care providers. Other information on adults will be sent directly to their primary medical provider.
At this point, these participants will be linked to appropriate medical care, potentially including the UAB Undiagnosed Diseases program or to the Smith Family Clinic for Genomic Medicine on the HudsonAlpha campus.
Dr. Korf is convinced that the database of information obtained from this groundbreaking initiative, will give researchers the knowledge to identify genetic factors that predispose individuals to rare or common disorders. The hope is to develop new approaches to prevent, diagnose, and treat these specific disorders.