Community-Based Genetic Screening Could Boost Population Health

Community-based genetic screening could enhance population health by identifying individuals at high risk for three inherited conditions known to cause cancer and increased risk for heart attack and stroke, a study published in Nature Medicine revealed.

Three inherited genetic conditions – breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia – are termed the Centers for Disease Control and Prevention Tier 1 (CDCT1) genetic conditions, researchers noted. For these conditions, early identification and intervention can have a meaningful impact on clinical actionability and public health.

Researchers behind the Healthy Nevada Project, a community-based population health study combining genetic, clinical, environmental, and social data, started notifying consenting participants who have certain genetic variants that predispose them to CDCT1 genetic conditions.

Initial results from nearly 27,000 participants showed that 90 percent of carriers of the CDCT1 genetic conditions were not previously identified in a clinical setting. This finding supports the use of population genetic screening to identify at-risk carriers not identified during routine care.

“Our first goal was to deliver actionable health data back to the participants of the study and understand whether or not broad population screening of CDC Tier 1 genomic conditions was a practical tool to identify at-risk individuals,” said Joseph Grzymski, PhD, the principal investigator of the Healthy Nevada Project, a research professor at the Desert Research Institute (DRI), chief scientific officer for Renown Health and lead author of the study.

“Now, two years into doing that, it is clear that the clinical guidelines for detecting risk in individuals are too narrow and miss too many at-risk individuals.”

Within the group of 26,906 participants the researchers studied, 358 (1.33 percent) were genetic carriers for CDCT1 genetic conditions. However, only 25 percent of those individuals met clinical guidelines for genetic screening. Additionally, more than 20 percent of the carriers already had a diagnosis of disease relevant to their underlying genetic condition.

“We’re at a point now where it’s possible to do clinical-grade genetic screening at population-scale,” said James Lu, M.D. PhD, co-founder and chief scientific officer of Helix and senior co-author of the study.

“What this study demonstrates is the potential impact of doing so. By making genetic screening available more broadly, we can help the millions of Americans who are unaware that they are living at increased risk for highly actionable, genetic conditions take action.”

Most significantly, the researchers found that of the 273 participants who were carriers of the CDCT1 genetic conditions and had clinical record information, only 22 individuals showed any previous suspicion of their underlying genetic conditions.

“For the first time, we are providing information at the individual level so study participants can make lifesaving changes to reduce their risk based on their genetics,” said Anthony Slonim, MD, DrPH, FACHE, president and CEO of Renown Health and co-director of the Project study.

“We’re conducting research on the community level to develop leading-edge research on health determinants for entire neighborhoods, states and eventually, the country. Returning these results allows us to understand the prevalence of genetically programmed diseases and illnesses that we have here in Nevada and ensure we are providing the best prevention and care plans. For the individual, the return of results can be lifechanging.”

Launched in 2018, the Healthy Nevada Project is a collaboration between Renown Health and Desert Research Institute (DRI). Recently, the initiative began incorporating COVID-19 data from consenting participants. Using the study’s online survey tools, a population health research team asked participants about their COVID-19 experiences.

In a 13-question online survey, researchers asked participants about possible exposure or risks of COVID-19, such as recent travel, attendance at large public events, and whether individuals have experienced symptoms of the virus.

“We've had over 14,000 participants respond as of Monday,” said Joseph Grzymski, PhD, an associate research professor at the Desert Research Institute (DRI), Chief Science Officer for Renown Health, and principal investigator of the Healthy Nevada Project.

“The data that our participants have provided us, in less than a week, has allowed us to discover risk factors within communities and take action to live longer, healthier lives. That's what makes the Healthy Nevada Project so exciting for all of us.”