With the cost of DNA sequencing dropping year over year and genomic testing becoming a more ubiquitous part of almost any healthcare journey, it’s become more and more clear that simply turning around the results quickly isn’t enough.
To turn Cs, Gs, As and Ts into more actionable insights, genomic counselors are needed to help steer patients toward the better health that can be afforded with earlier knowledge of genetic risk factors—think familial hypercholesterolemia, which can increase the chances of heart disease and stroke.
Other examples include hereditary risks for breast and ovarian cancers due to mutations in the BRCA1 or BRCA2 genes or mismatch-repair gene mutations associated with colorectal tumors and other diseases.
These are among what the Centers for Disease Control and Prevention has dubbed “tier 1” genomic applications, where early detection and intervention can have an outsized impact on public health and mortality, though many people are unaware they may be at risk.
To that end, Nevada hospital system Renown Health is partnering with telegenomics provider Genome Medical to help supply end-to-end genetic testing support and counseling services for its patients.
This includes participants in Renown’s Healthy Nevada Project, a large, community-based population health study launched in 2016 that aims to integrate genomic analysis with environmental data and socioeconomic factors to help offer more personalized treatments.
“We believe returning results to participants is a critical part of this population health study,” said Renown’s chief scientific officer, Joseph Grzymski, who also serves as an associate research professor at the Desert Research Institute and is principal investigator of the Healthy Nevada Project.
“However, we know that just returning results isn’t enough. We are also here to help people understand their risks and take necessary next steps at the clinical level to help them live healthier lives,” Grzymski said in a statement.
The project has already collected DNA from about 35,000 participants, with the goal of having one in 40 Nevadans enrolled by the end of this year.
Genome Medical’s virtual telehealth program will be essential in solving what CEO Lisa Alderson has described as the “last-mile delivery” problem when it comes to providing genomic services, and counseling specifically.
“In the country at large, there are only 2,000 geneticists and about 4,000 genetic counselors,” Alderson told FierceMedTech in an interview. “So there’s 6,000 specialists—which is a really small area of specialty medicine for an industry that’s seeing 25% year-over-year growth.
“That's creating this bottleneck in the system that is manifesting in patient wait time,” she said. “Patients on average wait six months to see geneticists in this country. That is just not acceptable. It's not good patient care.”
With Renown, Genome Medical is piloting a more proactive healthcare communications model for returning test results to patients alongside comprehensive genomic support.
“Patients as well as their physicians receive convenient access to Genome Medical genetic specialists to address any concerns and to incorporate this essential information and take appropriate actions in adjusting health care,” Alderson said. “We hope this will serve as a model for large-scale research programs to return genetic information to participants.”