• Research

    Diversifying genomic medicine beyond genes

The work to improve health and health care is ongoing and ever-evolving. It takes many shapes, from streamlining delivery to improving care and pursuing inclusive medical research to help develop precision medicine for all populations.

This was a key element of the Arizona Return of Actionable Variants Empirical, or RAVE, study, which brought genomic medicine to a federally qualified community health center that serves low-income patients in the Phoenix area. Researchers from Arizona State University, Mayo Clinic and Mountain Park Health Center collaborated on this study.

"One of the central aims of our study was to assess the feasibility of offering genomic screening in a nontraditional setting," says Richard Sharp. Ph.D., director of Mayo Clinic's Bioethics program. "In the past, access to genomic medicine has been limited to large academic medical centers like Mayo Clinic and, unfortunately, not all patients have convenient access to those types of facilities." Dr. Sharp is a co-principal investigator for the study.

Specifically, 500 Latino adults consented to have their DNA sequenced for a panel of "medically actionable genes." The panel included genes that predispose people to certain diseases such as heart disease, and breast and colon cancers. Findings in these genes are related to health conditions with established medical recommendations or interventions. Then the results were shared with the participants and their providers for follow-up.

Challenges in returning sequencing results were published in Genetics in Medicine. The study highlights the intersection of medical advances with social determinants of health, including factors such as the unequal distribution of resources, poverty, access to health care and transportation, housing instability, and health literacy. 

The researchers will be able to extend their efforts further with funding from the National Human Genome Research Institute at the National Institutes of Health (NIH). They will work on a five-year project with a handful of other institutions across the U.S. through the Electronic Medical Records and Genomics, or eMERGE, Network, an NIH-organized and funded consortium of U.S. medical research institutions.

"In the next phase of this project, we plan to focus on the genomic risk of common diseases, including coronary heart disease, diabetes, high blood pressure and colon cancer," says Iftikhar Kullo, M.D., a Mayo Clinic cardiologist. "Our goal is to incorporate genomic risk variants in conventional risk stratification algorithms to increase their accuracy and assess outcomes after returning results to participants and providers." Dr. Kullo is a co-principal investigator for the study.