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Unlocking the potential in the human genome is part of the future of health care, and as the state’s leader in genomic medicine, UAB Medicine is taking a major step forward with the Alabama Genomic Health Initiative (AGHI).

The program is aimed at preventing and treating disease, including certain types of cancer, heart problems, and genetic disorders. In collaboration with the HudsonAlpha Institute for Biotechnology in Huntsville, UAB Medicine will provide genomic testing, interpretation, and counseling free of charge to residents in each of Alabama’s 67 counties. The AGHI also includes a major focus on research, through which data from test results will be used to advance scientific understanding of the role that genes play in health and disease.

A $2 million-per-year award from the state of Alabama to UAB Medicine will help support the five-year program, during which time the AGHI will test approximately 2,000 people annually. Participants will be selected from all ethnic, racial, and socioeconomic groups, and all will receive extensive education about the program before they decide whether to provide the consent required for testing.

The AGHI marks one of the first statewide efforts of its kind in the United States, and it stems from UAB Medicine’s commitment to the health of the population we serve.

The What, Why and How of AGHI

Your Questions Answered


At present, the scientific community has identified 59 genes where the presence of specific variant forms of the gene predict the occurrence of severe medical conditions, such as cancer or heart disease, that can be prevented or treated if the diagnosis is made early. Every AGHI participant will be tested for these 59 genes, and those who test “positive” will be provided genetic counseling and be referred to their primary care provider to begin a monitoring or treatment plan.

For example, specific variations in the BRCA1 or BRCA2 genes have been shown to significantly increase the likelihood of developing breast and ovarian cancer, as well as some other types of cancer. A variant in the VHL gene can result in Von Hippel-Lindau syndrome, a rare genetic condition that causes tumors to grow from blood vessels. A variant in the RB1 gene has been shown to increase a person’s chances of developing retinoblastoma, a type of cancer that starts in the back part of the eye known as the retina.

Other variations in groups of several genes are associated with greater risk for disorders such as cardiomyopathy (disease of the heart muscle), arrhythmia (irregular heart rate and risk of sudden death), and hypercholesterolemia (high levels of cholesterol in the blood). The variants in each of these genes are “actionable”, meaning there are existing therapies that may prevent the disease from developing or minimize its effects.

In addition to testing a diverse group of residents from all 67 Alabama counties, children or adults in the state with an intellectual disability, autism, or an undiagnosed genetic condition will be offered the opportunity to be tested and potentially receive a definitive diagnosis.

After being educated about the program and providing signed consent, participants will complete a brief health questionnaire and submit a small blood sample, which will be processed into DNA and tested in laboratories at UAB and the HudsonAlpha Institute for Biotechnology.

Initial recruitment will begin in Birmingham at UAB Hospital and in Huntsville at North Alabama Children’s Specialists. Additional collection locations will be added, including the UAB Medicine clinics in Huntsville, Montgomery, and Selma, the University of Alabama Family Medicine clinics in Tuscaloosa and the outpatient clinics affiliated with the University of South Alabama in Mobile. Recruitment will then be expanded to other sites throughout the state.

Test results will be provided through the participant’s primary care physician. All participants will receive a report of the test results, regardless of whether any increased likelihood of disease is discovered. In cases where one of the 59 genetic variants is identified, the participant also will receive genetic counseling from a trained genetic counselor at UAB, free of charge, either face-to-face or through a videoconferencing link.

Participants found to have certain genetic variants can benefit from potentially lifesaving therapy, which also can be offered to other members of their family who may face a similar risk for disease. In the longer term, the AGHI will generate a wealth of knowledge that researchers can use to identify genetic factors that increase a person’s chance of developing both rare and common disorders. In turn, it is hoped that this knowledge will lead to new approaches for preventing, diagnosing, and treating disease.

The AGHI has created an oversight committee and several working groups to guide the development of the initiative. These various groups will help ensure that high ethical standards are maintained, that the program’s scientific and data storage methods are sound, and that participants are properly educated about their test results. The groups and their functions are listed below:

  • Genomics: Oversee genomic testing and genomic data interpretation and reporting
  • Patient/Provider Engagement: Oversee the system for educating and engaging the general public and health providers across Alabama and recruitment of study participants
  • Bioethics: Ensure that the AGHI conforms to the highest ethical principles and assist in developing educational and consent materials
  • Data Management and Biobanking: Implement mechanisms for obtaining and storing clinical and genomic data and banking DNA samples for future research use with consent