Clinical genomics for diverse populations

The National Institutes of Health (NIH) has announced funding awards that will accelerate the use of clinical genomics for diverse populations and for groups who have been medically underserved.

Dr. Gail Jarvik, professor of medicine and of genome sciences, and head of the Division of Medical Genetics, will lead the coordinating center for the national project.

The $18.9 million total in federal grants for the multi-site, national effort, planned to run for four years, will support research on genome sequencing in patient care. Genome sequencing helps figure out the “letters” in a person’s DNA code and is increasing used to understand disease and disease-risk.

Medical scientists are interested in the potential of DNA sequencing for improving the diagnosis and treatment of rare single-gene disorders, as well as for tailoring the care of common, complex conditions like cancer, heart disease, autism and dementia. 

An emphasis of the newly funded effort will be on ensuring that innovative approaches and best practices in clinical genomics can be applied to individuals and groups from a variety of backgrounds. The project also will look to extend genomic medicine in healthcare settings beyond research universities and teaching hospitals. 

“This program has a large focus on making sure the advances in genomic medicine reach diverse patient groups, not just those with access to academic medical centers,” Jarvik noted. “The data generated from this program will inform the standard of care for genomic medicine for all patients.”

Jarvik was the principal investigator on a site grant in the last round of funding for CSER. The study was called NEXT Medicine, an acronym for New EXome Technology in Medicine. The exome is the portion of the genome that contains the code for producing proteins. It can be sequenced less expensively than the entire genome, while still providing important information on certain genetic traits and disorders.

The project was a randomized controlled trial of whole exome sequencing in patients with colorectal cancer or polyposis for whom a genetic test was ordered in the course of usual clinical care. The researchers produced 59 publications on their findings.

With this new round of funding, the National Human Genome Research Institute and the National Cancer Institute have partnered with the National Institute on Minority Health and Health Disparities. They will collaborate to improve recruiting and retaining patient research participants from diverse racial and ethnic groups, as well as from previously understudied clinical healthcare settings where genomic medicine could potentially be put into practice.