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Genomic testing holds exciting potential for disease treatment

Alabama has implemented a visionary and innovative investment in the future of its residents’ health status by awarding $2 million per year for a five-year program. The Alabama Genomic Health Initiative (AGHI) aims to unlock the human genome by identifying specific genes to allow for preventing and treating disease, including certain types of cancer, heart problems and genetic disorders.  This is one of the first statewide initiatives of its kind in the United States.

This initiative involves collaboration between the UAB School of Medicine and the Hudson Alpha Institute for Biotechnology in Huntsville to conduct genomic testing of approximately 2,000 Alabamians each year.  Participation is free and is being sought to closely reflect the age, gender, race, ethnic and socioeconomic composition of Alabama’s population from all 67 counties.  Participants must be 18 or older and will receive extensive education about the program.  Test findings will not be released without the participant’s approval.  Testing involves the collection of a blood sample.

A list of 59 genes identified by the American College of Medical Genetics and Genomics (ACMG) is being used in this initiative.  These genes are known to be associated with an increased risk for cancers, cardiovascular diseases, and genetic disorders.  The genes are being identified because there are actions that you and your physician can take to help prevent or detect early onset of their associated diseases.  Other genes could be included later. 

The AGHI also will use data from testing to better understand the role that genes play in health and disease.  It is estimated that 1 to 3 percent of those tested will test positive for one or more of the 59 gene types.  A small percent identified with a medical condition believed to have a genetic cause that has not yet been identified will be invited to participate in more extensive whole genome sequencing.

Given the poor health status of Alabama’s population, identifying possible risks for major health conditions in time to prevent these conditions from emerging, or to decrease potential impact through early intervention, holds much promise.  Alabama residents have the second highest cardiovascular diseases death rate among all 50 states, with the death rate being more than 17 percent higher in rural counties.  They also have the seventh highest cancer death rate among all 50 states, with the death rate being over nine percent higher in rural counties.  Genomic testing holds exciting potential to identify individuals with increased risk where prevention can have a very positive health status impact.  For additional information on the AGHI, visit the program’s website at uabmedicine.org/aghi or call 855-462-6850.

Dale Quinney is executive director of the Alabama Rural Health Association, 1414 Elba Highway, Troy, 36081.