Estimated read time: 3-4 minutes
This archived news story is available only for your personal, non-commercial use. Information in the story may be outdated or superseded by additional information. Reading or replaying the story in its archived form does not constitute a republication of the story.
ST. GEORGE — A massive population study looking for connections between genetics and human disease has sequenced 10,000 DNA samples and collected samples from 50,000 participants, Intermountain Healthcare officials said.
And though they can't discuss their findings yet, Intermountain Assistant Vice President of Precision Health Services Gary Stone said they're already seeing "interesting" patterns that could be "very helpful to Utahns."
"We are already making progress and seeing success," Stone said, "so we'd love to turn that 50,000 into 500,000."
The HerediGene population study project is a years-in-the-making collaboration between Intermountain and deCODE genetics, an Icelandic genomics company. The project was first announced to the public in mid-2019.
deCODE was originally interested in working with Intermountain because of its investment in precision medicine, Stone said. Precision medicine aims to evaluate patients' genomes, lifestyles and unique traits to more personally tailor care to the individual. deCODE was looking for a partner outside of Europe. At the start, Intermountain Dr. Lincoln Nadauld said the project would "have a global impact as medications, treatments, and healthcare innovations that can benefit patients universally are developed from the findings."
Now Intermountain is looking for participants from any of its Utah clinics and hospitals, and will soon begin collecting samples at its Nevada and Idaho locations as well. Any U.S. resident age 18 or older can participate, Stone said; participation is free and voluntary.
"So let's just say that you have a regular doctor's appointment," Stone said. "You're going in, and you have a regular blood draw for a cholesterol check, or just an annual checkup. When you go in for that blood draw, you'll be asked, or you can ask, can I participate in HerediGene? And while you're getting your blood draw, we'll just take an extra tube, so you don't have to have an extra poke. We'll take an extra tube of blood for the project."
A list of participating HerediGene locations is available at the Intermountain website.
Most Utahns who participate in the study won't hear back about their results. However, it is estimated that about 3% of participants will receive a report identifying a known disease-causing variant in their DNA. Health officials can use that information to create a plan to actively monitor individuals who are at greater risk of certain cancers and diseases; such proactive monitoring and treatment is a major goal of precision medicine.
"If you are a 25-year-old woman in Utah, you would not be getting regular mammograms," Stone explained. "That doesn't start until later in life. But she could develop breast cancer if she has a mutation, and we didn't know it. ... So in this case, if a woman participated in this, or anyone, really, and found that they had a mutation, our genetic counselor would call them back and would explain to them what that means, and then help them with the next steps."
Ultimately, the project aims to help doctors around the world better predict and prevent disease. "There are a whole bunch of mutations that we're not sure what they do," Stone said. "... We hypothesize there are other mutations we're not aware of that might be causing other chronic illnesses, like multiple sclerosis, hyperlipidemia, Alzheimer's, Parkinson's. I don't want to overpromise anything, I always hesitate to do that in research, but our aim is new discovery, as well."
More information about the HerediGene study is available here.
