In a new study published in the journal Nature Medicine, researchers champion the potential of community-based genetic screening to effectively identify individuals who may be at increased risk for three common inherited genetic conditions known to cause several forms of cancer. The study comes from the Healthy Nevada Project®, the largest, community-based population health study that synthesizes genetic, clinical, environmental and social data.
The project’s aim was to identify genetic conditions including Hereditary Breast and Ovarian Cancer, Lynch Syndrome, and Familial Hypercholesterolemia. To do so, they analyzed the results from nearly 27,000 study participants in order to determine whether population genetic screening could fill the gaps for at-risk carriers who had not been previously identified during their routine care. They found that it can.
"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," explained lead author Joseph Grzymski, Ph.D., the principal investigator of the Healthy Nevada Project®. "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."
The researchers targeted these specific conditions because of their categorization as CDC Tier 1, meaning that they are the most common and that early detection and treatment could significantly lower morbidity and mortality.
Of the 358 participants who turned out to be carriers for CDC Tier 1 conditions, only 25% met clinical guidelines for genetic screening. Additionally, explains Eureka Alert, over 20% of the carriers already had a diagnosis of a disease that was 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," added senior co-author James Lu, M.D. Ph.D. "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."
"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 co-director of the Project® Anthony Slonim, M.D., Dr.PH., FACHE. "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."
The Healthy Nevada Project® started providing free genetic testing to every Nevadan above 18 years of age in 2016. Since then, over 50,000 study participants have enrolled, making the project the fastest-enrolling genetic study in the world.