NEW YORK (GenomeWeb) –The University of Alabama at Birmingham and the HudsonAlpha Institute for Biotechnology are launching a $2 million state-funded initiative to identify individuals at risk for genetic diseases and apply their data to advance research.
The Alabama Genomic Health Initiative, funded through appropriations from the Alabama legislature to UAB, aims to recruit participants from every county in the state and provide genomic analysis and interpretation free of charge.
The initiative aims to collect blood samples from 2,000 consenting individuals in the first year and store them in a biobank for genomics research. Over the next five years, the hope is to grow the repository to include samples and data from 10,000 Alabamians. The initiative will also host programs to educate the public on genomic medicine.
Participants will be bucketed into two groups: those who are healthy or receiving treatment for a condition without a known genetic cause; and those with a condition that is known to have a genetic basis but whose origin is unclear.
Those unaffected by a genetic condition will be genotyped for variants in 59 genes that the American College of Medical Genetics and Genomics has deemed actionable, though the initiative may decide to add other geographically important, clinically relevant genes. Participants testing positive for one of the 59 genes and their medical providers will receive test results, and the individual will also receive genetic counseling.
"For some, the results will indicate an increased risk of a disease for which preventive or treatment strategies exist," UAB said in a statement. According to Bruce Korf, chair of the UAB genetics department, between 1 percent and 3 percent of tested individuals will receive a positive result.
Meanwhile, participants with a genetic condition of unknown origin will undergo whole-genome sequencing, also conducted by HudsonAlpha. These patients will also be guided to medical care and counseling, and possibly have the chance to be seen through the UAB Undiagnosed Diseases Program or Smith Family Clinic for Genomic Medicine on the HudsonAlpha Campus.
Collaborators involved in the Alabama initiative expect to begin recruiting participants in the spring at UAB and then more broadly throughout the state.
"Our goal is to develop a representative cross sample of Alabama residents, broadly representative of ethnic, racial, and socioeconomic groups throughout the state," said Matthew Might, director of UAB's Hugh Kaul Personalized Medicine Institute and codirector of the Alabama Genomic Health Initiative. The database resulting from the intiative "will be an unparalleled tool for understanding the health risks across different demographics in the state," he added.
Might was previously a strategic advisor to Obama's Precision Medicine Initiative, now known as the All of Us Research Program, which aims to recruit 1 million Americans over four years and collect medical, environmental, genomic, and other data from them in a longitudinal fashion. The program this week hosted a two-day workshop to discuss the operational, ethical, and legal issues that may arise when conducting genetic testing and returning results on such a large scale.
The Alabama Genomic Health Initiative has likely considered some of the same issues ahead of launching. The collaborators said they have formed working groups that will oversee different aspects of the program, including genomics, recruitment, bioethics, and data and biobanking. A steering committee will provide procedural guidance. The bioethics working group will review the initiative's plans for ensuring participants' privacy, security, and informed consent. An expert panel will look into any ethical issues that may arise.