Genetic Research Study Surpasses 100K Participants Revealing Discoveries to Help Patients with Serious Diseases

Thanks to many people in the Intermountain West participating in HerediGene, the research study has reached a monumental number of 100,000 enrollments. And as this milestone marks its path to a goal 500,000 enrollments, researchers and doctors are astonished at the discoveries it’s already providing.

“From these first 100,000 participants we’ve already made three extraordinary discoveries. Some of those have been published or are soon to be published,” HerediGene’s founder, Lincoln Nadauld, M.D., Ph.D. said. “All of them have an enormous impact on how we care for patients. It’s a huge achievement.”

In October, Dr. Nadauld joined Intermountain chief scientist Dave Jones, Ph.D., and scientists from deCODE genetics in Iceland announcing one of those HerediGene-contributed discoveries about the genetic underpinnings of vertigo. Dr. Nadauld says he didn’t anticipate making such important discoveries in the first 100,000 individuals, especially when HerediGene launched two-and-a-half years ago. The statistical power that’s available to medical providers through these large populations is what makes those discoveries possible.

“We’ve identified thousands of patients who have important germline gene variants that need medical attention. So we’re going to help those individuals with very serious diseases. And that’s very satisfying,” Dr. Nadauld said.

Out of these 100,000 HerediGene enrollments – about 130 participants have received clinical results. Intermountain genetic counselors are beginning to contact these few participants showing risks for known genetic conditions that can be treated. This clinical follow-up to a research study is how we’re following through with our promise to our patients, according to Intermountain precision genomics operations director, Travis Sheffield.

“A hundred-thousand people participating in HerediGene is monumental,” Sheffield said. “This shows that our communities trust who we are and what we’re doing at Intermountain to help people live the healthiest lives possible.”

The HerediGene: Population Study is a research study mapping the genomes of hundreds of thousands of patients and participants across the intermountain west. Anyone can enroll by consenting at HerediGene.org and donating a small amount of blood at an Intermountain Healthcare hospital or clinic. Participants volunteer to join HerediGene and can do so at no cost to them. Its goal is to better predict and prevent serious diseases through research and discovery.

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