• By Colette Gallagher

Science Saturday: Could population genetic screening improve public health?

September 5, 2020
colorful graphic representing genetic health

Hereditary BRCA-related breast and ovarian cancer, Lynch syndrome and familial hypercholesterolemia are estimated to be relatively prevalent in the general population but poorly found using traditional risk screening. In a typical medical practice, genetic testing for these conditions is based on personal or family history, ethnic background or other demographic characteristics, that may not always be easily or accurately gathered by a physician.

Data from a population health study published in Nature Medicine show that population genetic screening efficiently identifies carriers of these genetic conditions, without requiring personal or physician knowledge about them.

“Our experience suggests that population genetic screening in patients will identify at-risk carriers who may not know they are at risk if they just followed routine medical care,” says Matthew J. Ferber, Ph.D., a Mayo Clinic contributing author. “Early detection and intervention could significantly reduce their morbidity and mortality.”

The population study, called the Healthy Nevada Project, targeted Nevada’s diverse demographics, with 23.8% of participants recruited from rural zip codes and 19% from minority groups, predominantly Hispanics and Native Americans. In all, a cohort of 26,906 participants was evaluated to determine whether population screening could efficiently identify carriers of these genetic conditions and the impact of genetic risk on health outcomes.

Read the rest of the article on Advancing the Science, to discover what researchers found.

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