In collaboration with the University of Nevada, Reno, Renown Health is conducting a study to increase education, prevention, detection, and treatment of inherited diseases.
The study is called the Healthy Nevada Project, and tests eligible Nevadans who are 18 years or older, through blood or saliva tests.
The no-cost testing began when the Principal Investigator and Chief of Genomics at Renown Health, Dr. Joseph Grzymski, saw a need for researchers to better understand genetic risks.Â
The testing specifically looks at genes associated with three conditions: Familial Hypercholesterolemia (FH), Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome.
Dr. Grzymski says these conditions were chosen because they are actionable, meaning there are steps a participant and their doctor can take to reduce or address health risks.
"Everybody inherits DNA, and those three conditions, when detected early, can be prevented," said Dr. Grzymski. "Those three conditions, if not detected early, lead to 30-year advanced disease acceleration, which means individuals tend to get the diseases much earlier, and they are bad. So, our goal was to determine how many people in our population have those three conditions."
One in 250 Americans is at risk for FH, which can lead to heart disease at a younger age. One in 400 Americans has Hereditary Breast and Ovarian Cancer Syndrome. And, one in 500 Americans has Lynch Syndrome, which raises the risk for colon, endometrial, and other cancers.
Research shows that about one person in 75 will have at least one of the three conditions. Dr. Grzymski says if it's a crowded room, there are likely to be several carriers. Based on that data, researchers developed some additional goals.
"Our goal was to return the results, to educate people, to get them talking about it with their families, so that they could screen family members, and then track how well we do with, not only returning the results, but improving the outcomes of the individuals who have the risks for disease," said Dr. Grzymski.
One participant spoke with us and explained how the testing changed her life. When Toni Ruff received her results, she was positive for BRCA2, which is a gene that puts her at risk for developing breast, ovarian, or pancreatic cancer. This gene in men also indicates an increased risk for prostate cancer.
Toni's results led her to work with Dr. Catherine McCarthy, a family practitioner at Renown Health. Together, they decided to move forward with a double mastectomy and a full hysterectomy as a preventative measure.
"It was very startling," said Toni. "But after it was explained to me by the oncologist and I talked to my family members about it, I realized that, you know, going through with the preventative measures, tests, and additional testing was necessary."
Toni had spoken with her family about getting the testing done, which led to her daughter, Emily Ruff, finding out she was also positive for BRCA2. At the time, Emily was pregnant with her son.
"I had this sense of guilt that didn't make sense, that, you know, I was positive for this genetic variant that increased my risk of cancer substantially. And then there's now a risk that I might pass it to my baby at the time," said Emily. "It was pretty emotional for me to get that news. I cried when I opened my test results."
Emily also worked with Dr. McCarthy following her results. They decided in her case not to go through with preventative surgery, but instead to commit to increased testing throughout her life for the development of cancer.
"I'm glad I know now. You know, not having that information, I wouldn't have known that I need to do screenings every six months, that I need to have an MRI done, that I need to have mammograms done," said Emily. "That wouldn't be recommended for someone my age."Â
Emily says she will also encourage her son to undergo the testing when he reaches 18-years-old, as well as anyone else who qualifies.
"I recommend anyone to get tested. You don't know what to do unless you get tested, and then you have the knowledge to make those informed decisions. Without testing, you could be walking around with a 70% lifetime risk of having breast cancer like I did, and not know," said Emily. "To know that is really helpful because you can take the proper steps to do the screenings, change things about your life if you need, to kind of decrease your risk of cancer."
So far, about 65,000 people have been tested in Nevada. The study will cease testing once it reaches 100,000 participants.
This type of genetic testing is available on its own but will need to be arranged through a provider and may come with a cost to the patient.
The doctors involved with the project say knowledge is power and hope to arm Nevadans with as much power as possible as they continue testing.
To sign up to participate in the Healthy Nevada Project, visit: Renown’s Healthy Nevada Project | Renown Health.
