The dual benefits of population-scale genomics

From Nature Research:

With the refinement and reduced cost of sequencing technology, science has reached another inflection point: population-scale genomics, where clinical-grade assays can be used to advance healthcare, while fueling research. The Healthy Nevada Project (HNP) epitomizes that movement. A population health initiative run by the Renown Institute for Health Innovation (Renown IHI), a partnership between Renown Health and the Desert Research Institute, the project aims to combine genomic, environmental and medical data from 250,000 participants to assess the influence of genetics on health and disease. The study also uses sequencing data to screen participants for medically actionable genetic conditions, such as familial hypercholesterolemia (FH), hereditary breast and ovarian cancer syndrome (HBOC), and Lynch syndrome (LS).

…In July, Helix and the HNP team reported findings from the first 27,000 participants in an article published in Nature Medicine1. Among HNP participants, the researchers found that approximately 1 in 75 carried a variant predisposing them to HBOC, LS, or FH. Of those predisposed, nearly 22 percent had already begun to develop symptoms of disease. Importantly, 90 percent of those with medically actionable results would not have known about their increased risks for disease had they not participated in the study; patients often don’t qualify for genetic screening under current clinical guidelines.

More here.