Do genes tell all? How UAB is using genomics to treat patients

AGHI is partnering with the UAB Department of Family and Community Medicine to aid research, patient care and insight on using the genomic sciences in primary care.
Written by: Ann Marie Stephens
Media contact: Anna Jones


Stream Do genes tell allAGHI is partnering with the UAB Department of Family and Community Medicine to aid research, patient care and insight on using the genomic sciences in primary care.Patients at three University of Alabama at Birmingham Department of Family and Community Medicine clinics can discover predicted high risks for diseases such as cancer and heart disease and receive personalized medication information thanks to the department’s partnership with the Alabama Genomic Health Initiative.

The department’s primary care clinics, UAB Hospital-Highlands, UAB Medicine Hoover Primary and Specialty Care, and UAB Selma Family Medicine Center, all offer enrollment into an AGHI study that uses the genomic sciences to try to discover health and medication information about a patient based on the patient’s genetic makeup. 

AGHI does this by identifying whether the patient has any gene variants associated with a high risk of certain diseases, like certain kinds of heart disease and cancer. They also use pharmacogenetics to see how medication is metabolized and interacts in patients. This can help inform selection and dosing of medications to minimize side-effects and maximize efficacy.

Patient Care

The department’s partnership with AGHI will allow UAB primary care providers to offer personalized patient recommendations and learn how primary care clinics can best provide genomic science-based care, says UAB Hospital-Highlands Medical Director Erin DeLaney, M.D. DeLaney was one of the first primary care doctors at UAB to offer enrollment into the study.

“One of the goals of this partnership is to understand better how genomics can be part of a primary care practice and how it may impact patient care, disease prevention strategies, precision drug therapies and treatment,” DeLaney said. “This partnership will help bring cutting-edge, precision medicine to patients where they are, help doctors provide more precise treatment recommendations, and help us all understand what genetic variants and pharmacogenetic findings may or may not mean in the real world and how they can affect patients.” 

Research

Research is also an important factor in this partnership, which helps collect more genomic information on diverse populations. AGHI Program Director Renie Moss says this information has been lacking previously.

“This study has a real-world impact on communities that have been left out or missing from genetic research in the past,” Moss said. “Historically, genetic databanks have predominantly consisted of data from persons of European ancestry, which leaves out a significant part of our diverse population in Alabama. AGHI is helping to fill in those gaps to not only improve health outcomes for these historically underrepresented communities but understand how genetics factors into these communities’ health outcomes.” 

AGHI does this by putting the genomic information of patients who agree to this into a biobank and data repository that AGHI-approved researchers for Institutional Review Board-approved studies at UAB can use. Although this is a completely optional part of enrollment, this information could help researchers better understand genomics. More than four of every five people who are enrolled have opted in.

As of Nov. 4, 2022, more than 800 primary care patients have enrolled with the AGHI from the three clinics. Nearly two-thirds of enrolled patients are African American, and over 1.5 percent are from other minority populations, as of Jan. 20, 2023.

Process

To get tested, patients can choose to enroll after AGHI research team members completely explain the study to potential participants and answer their questions. They then take a blood test — often the blood draw is done at the same time as other routine blood tests that are ordered by their primary care provider. Both the primary care provider and the patient then receive the results, which are included in the patient’s digital medical records for reference throughout the patient’s life.

If the patient’s results indicate a positive disease risk, an AGHI genetic counselor contacts the primary care provider and the patient to educate them on the results and next steps, and then the primary care provider ensures any needed steps are implemented. If the results include pharmacogenetic information that could inform a current medication decision, the primary care provider and an AGHI pharmacist will discuss the results.

A community board also advises AGHI. This diverse board helps to continually improve how AGHI implements its study. 

“Clinicians, community members, faith leaders and community organization leaders who are a part of the AGHI community advisory board come together quarterly to provide guidance and community input to the study team,” Moss said. “Valuable revisions to the study, including recruitment, educational materials and return of results procedures, have been made as a result of the ongoing guidance received from the AGHI advisory board members.”

Patients in participating clinics who are at least 18 can enroll by talking with their primary care team. From there, the team will connect them with AGHI to enroll, which can often happen at the end of a scheduled clinical appointment. 

Find a provider at UAB Hospital-Highlands or UAB Medicine Hoover Primary and Specialty Care, or call 334-875-4184 to make an appointment at UAB Selma Family Medicine Center.