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Home > Featured > Healthy Nevada Project makes strides in genetic testing, endures challenges of pandemic

Healthy Nevada Project makes strides in genetic testing, endures challenges of pandemic

By ThisIsReno
Published: Last Updated on
A Helix sequencing flow cell.

By Jane Zebrack

The Healthy Nevada Project is proving, once again, that Nevada can be a place of innovation and discovery.

As a collaboration between the Desert Research Institute and Renown Health, the Healthy Nevada Project is the largest community-based population health study in the world. The project launched in September 2016, and has since sequenced the DNA of more than 50,000 participants.

This Is Reno spoke with Dr. Joe Grzymski, the Principal Investigator of the Healthy Nevada Project. Grzymski is also the Chief Scientific Officer of Renown Health.

Dr. Joe Grzymski
Dr. Joe Grzymski

Grzymski said any consenting adult who is a Nevada resident can sign up to be a participant of the project. A sample of their saliva is used for DNA testing, and they can receive information about their ancestry and traits based on their genetic code for free.

For individuals who have approved to be notified of clinically significant results, they are informed if they have a genetic mutation for any of the three Centers for Disease Control and Prevention Tier 1 genetic conditions: BRCA-related hereditary breast and ovarian cancer (HBOC), Lynch syndrome (LS), and familial hypercholesterolemia (FH). The CDC classifies these conditions as Tier 1 because “early identification and intervention have a meaningful potential for clinical actionability and a positive impact on public health.”

About 1.3% of Healthy Nevada participants so far have been identified as at risk for having a CDC Tier 1 genetic condition. Those identified as at risk are connected to a licensed genetic counselor (LGC) from Genome Medical, a company providing genetic health services through telemedicine.

Grzymski noted that “doctors aren’t really well trained in how to return those results and assess their significance.” Thus, LGC’s are crucial to helping participants navigate what Gryzymski called “important health decisions.” For example, if a participant is found to have a BRCA mutation, they have a 50% chance of passing the mutation on to each of their kids.

Grzymski stated that the project has “broad educational goals.” He said that by fostering the engagement of participants “in their own health and understanding of things like genetics,” the research team uses personalized medicine “as a tool to get people to think a little bit differently about prevention of genetic diseases.”

Those who contribute to the study and gain information about their DNA are likely to be curious about why and how genetics impact our health. As a result, they may seek conversations with experts and engage in further personal research.

Research elevates Nevada’s profile

The Healthy Nevada Project also strives to “elevate Nevada’s research profile,” claimed Grzymski. Although Nevada is currently “one of the bottom states in terms of funding of both basic and applied research,” the Project is continuing to advance our state’s reputation in the research world and increase research funding in our state. Their most recent study was published in the peer-reviewed medical journal Nature Medicine on July 27 and has brought considerable attention to the project.

In the study, the Healthy Nevada Project research team suggests that population genetic screening has the potential to efficiently identify individuals who may be at-risk for the three CDC Tier 1 genetic conditions. Moreover, they determined that this method of identification is more merited than the traditional family history-based approach.

Grzymski and other contributors of the study estimated that “about 90% of the cases that were detected in Healthy Nevada Project population screening were missed in routine care using the [family history-based] standards.”

A Healthy Nevada team member helps to register participants in the study (pre-COVID-19). Image: Healthy Nevada Project
A Healthy Nevada team member helps to register participants in the study (pre-COVID-19). Image: Healthy Nevada Project

“Missing these cases is unacceptable,” as these people are at an increased risk for “significant diseases and early death,” Grzymski said.

Project researchers believe this large discrepancy is due to the limitations of using family history to assess health, such as patients not knowing their full family histories and physicians not having enough training on how to apply family history knowledge or lack thereof.

With more testing, the researchers of the Healthy Nevada Project hope to learn more about the “interplay between genetics and the environment.” Most cancers aren’t from monogenic risks, meaning they are not solely the result of a single genetic mutation; they are often related to a variety of factors, which can include environmental and lifestyle effects. Grzymski acknowledged that understanding this “requires a lot more data than [they] traditionally had access to.”

Refocusing public health

When asked how the Healthy Nevada Project has been impacted by COVID-19, Grzymski succinctly replied, “significantly.” Normally, everything is conducted in-person. They “take pride in the fact that individuals come into the study site, and they get to meet with a real, live human being and talk to them about the study and go through the informed consent process.”

Now, they have transitioned to at-home operations, using their website and email as methods of communication with participants. Grzymski is eager for the eventual return to a “new normal” of in-person testing, with the caveat of necessary precautions–including social distancing and mask wearing.

Grzymski’s more “nuanced” view of COVID-19’s impact is that although the virus is significant, it has garnered the “complete focus” of the public health community and acted as a “distraction from population health.” He maintained that there has been a “diversion of so much resource from other preventable reasons that people get sick and die young.”

Grzymski’s take: “For the same reason that public health officials recommend that everybody wear a mask—because it helps stop COVID-19 transmission—everybody should pay attention to the other things they can do every day to improve their health outcomes,” including genetic testing.

Visit healthynv.org for more details.

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