Innovations in scientific discovery have changed the way we look at healthcare. This landscape is shifting in the direction of preventative health, with more clinicians and patients gaining access to clinically-relevant information that enables proactive decision making. Genetic testing companies and health care providers are teaming up to incorporate genetic testing in clinics to drive better health outcomes. One successful example is the partnership between Helix and The Renown Institute for Health Innovation (Renown IHI), the latter being a collaboration between Renown Health and the Desert Research Institute. Together, Helix and Renown IHI are working on a population genomics initiative known as The Healthy Nevada Project.

Solving healthcare challenges with genetics

Integrating genomics into clinical care is a goal shared by many health networks and health systems. Renown Health is the largest locally owned not-for-profit healthcare network in Northern Nevada. They are a pioneer in the field of population genomics, as one of the first health systems to partner with a population genomics company on an initiative as large as the Healthy Nevada Project.

The study’s intent is to improve clinical care and advance our understanding of the complex relationship between health, genetics, and environment. In return for their participation, the Healthy Nevada Project gives participants a no-cost opportunity to learn about their ancestry, diet insights, and genetic risks linked to heart disease and certain cancers. ^[1]

To accomplish this they needed:

• Participant friendly engagement tools and sample collection
• Next-generation sequencing technology that could produce clinical grade data at scale

In the past, an organization would need multiple partnerships to accomplish this. Helix’s, end-to-end solution, however, means that Renown IHI only had to partner with one company. ^[1]

The Healthy Nevada Project has been successful due to a number factors, one of which being easy and participant friendly sample collection kits (FDA 510K cleared saliva collection kit Oragene·Dx). These kits enable a seamless participant experience, as well as ensures that samples are maintained at a quality sufficient for clinical-grade sequencing.

Helix operates one of the world’s largest CAP-accredited and CLIA-certified sequencing labs and runs its proprietary Exome+^™ assay—a panel-grade clinical exome enhanced by hundreds of thousands of informative non-coding regions that are typically not covered by standard whole exome sequencing assays. Together, Helix’s lab and Exome+^™ assay produce high quality DNA sequences that can be used for clinical interpretations as well as ground breaking research.

Helix chose to use a 510(k) cleared collection kit to offer the flexibility of providing clinical-grade results to their customers. The use of a FDA-compliant collection device provides assurances regarding safety, effectiveness, and quality of that component, which helps assure safety and effectiveness of the test system.

“We are proud to work with health systems across the US to support population-scale genomics. In general, these initiatives aim to expand access to clinically actionable genetic screening, deeply integrate genomics into clinical care, and drive research to ultimately improve the prevention, diagnosis, and treatment of disease. While we’ve learned a lot about the genome over the past decade, we haven’t made as much progress translating it into the clinic – and these projects are poised to dramatically change that.” – Justin Kao, Co-Founder of Helix, in an interview by the Precision Medicine World Conference (PMWC)^[2]

The Healthy Nevada Project became one of the fastest growing population sequencing initiatives in the USA.

Enrolling participants

The pilot study began in September 2016, and approximately 10,000 participants enrolled in just 48 hours. In March 2018, Helix was brought on board for phase 2 of the project and it expanded to an additional 40,000 participants, many of whom were recruited through Renown Health’s hospitals and clinics.

What answers do they provide?

Participants who are enrolled in the project have their DNA sample collected using a saliva sample kit. The samples are then sent to Helix’s high-throughput lab, a report is generated and the participants are contacted by a genetic counselor if they have a health risk identified. Participants are evaluated for a genetic risk related to^[3]:

• Familial Hypercholesterolemia (FH):A lipid condition where a person's DNA increases their risk of developing a heart disease.
• Hereditary Breast and Ovarian Cancer Syndrome (HBOC): A syndrome in which a person’s DNA increases their risk of developing various types of cancer, including breast, ovarian, and prostate cancer.
• Lynch Syndrome: A condition where a person’s DNA increases their odds of developing certain cancers, such as colorectal, endometrial and gastric cancer. ^[4]

The project focused on these three conditions because the Centers for Disease Control (CDC) has identified them as being both influential on a person’s health and actionable. This means that participants who find out they’re at risk for one of these conditions can take steps to reduce their risk of serious illness. ^[2]

Patient story: Betsey and the BRCA1 gene

This project is already changing lives. For example, Renown Health released a video sharing the story of Betsey, and her experience with The Healthy Nevada Project. She received a call from a genetic counselor with the news that she carried a variant in her BRCA1 gene which increases her odds of developing several different types of cancer, most notably breast cancer and ovarian cancer. ^[4]

"It increases her chance of getting breast cancer to somewhere around maybe 60% on average over the course of her lifetime. And then it increases the chance of her developing ovarian cancer to the 30-50% range. So these are significant elevations in risk, but not every woman will go on to develop those cancers. The problem we are at in the genetics space is that we really can't predict with good accuracy who is more likely to get cancer versus not."  - Scott M. Weissman, MS, CGC. Certified Genetic Counselor. Genome Medical Services.

After receiving her results she spoke with her gynecologist and they both agreed to have her ovaries removed to significantly lower her risk of developing ovarian cancer.

"Because ovarian cancer doesn't present itself with early warning signs or symptoms, then it would be good to [remove the ovaries] which would significantly minimize the chance that she would develop that cancer." - Scott M. Weissman

Without learning that she carried the pathogenic variant in the BRCA1 gene from The Healthy Nevada Project, Betsey would likely not have had the opportunity to learn about her elevated risk and to subsequently take risk-lowering actions.   

Removing boundaries

By providing participants with non-invasive collection methods, reducing difficulty in recruiting participants, providing high-throughput lab systems, and accurate results; the partnership between Helix and Renown IHI has removed traditional barriers and created a rapidly scaling genomic research initiative that can be integrated into clinical care for a large population in Nevada. ^{[2] [4]}

Are you interested in receiving free samples of Oragene DNA saliva collection kits for your next project? To request kits, click on the free sample button at the top of the page or email us at info@dnagenotek.com.

Related blog: Do you need an FDA cleared DNA collection device for your laboratory developed genetic test (LDT)?

References:

^[1] https://www.helix.com/pages/renown-ihi-case-study

^[2] https://www.pmwcintl.com/justin-kao-2020sv-qa/

^[3] https://healthynv.org/summer-project-updates/

^[4] https://bestmedicinenews.org/cancer-care/betseys-story-cancer-beating-dna-results/?utm_source=ExactTarget&utm_medium=Email&utm_content=AB_Test_20190727_BestMed&utm_campaign=Best%20Medicine%20Subscribers%20-%20External%20Domains