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HerediGene study investigates links between human genetics and disease

a white man with brown hair wearing a lab coat stands behind a podium in front of a wall that says "The Human Genome" and next to a sign for the HerediGene study.
Brad Gillman
/
Intermountain Healthcare
Dr. Lincoln Nadauld is the founder of the HerediGene study.

The HerediGene: Population Study is the world’s largest DNA mapping initiative, studying the DNA of participants from Utah and Idaho. Intermountain Healthcare and deCODE genetics, a subsidiary of the biopharmaceutical company Amgen, launched the HerediGene: Population Study in 2019.

Dr. Lincoln Nadauld, founder of the study and a medical oncologist at Intermountain Healthcare, said they have enrolled more than 150,000 participants already.

“This study is the largest of its kind in healthcare. It's an effort to map the genomes of hundreds of thousands of participants,” Nadauld said.

The goal of the research is to discover new connections between genetics and disease in humans. The study has already helped people identify heritable health risks by searching for genetic mutations associated with disease.

About a year ago, 25-year-old St. George resident Madi Certonio went in for a routine blood draw. She was offered the chance to participate in the HerediGene study and agreed to have her DNA sequenced. The HerediGene scientists discovered that Certonio had the BRCA2 mutation, a gene that is associated with higher risk for both breast cancer and ovarian cancer.

“I was able to do further testing with the saliva test, and it was able to be confirmed. Since the confirmation, I've had to have some meet with a high-risk oncologist and have further testing. A care plan was in place, and I'm able to do everything normal continue my life, but I'm just taking extra precautions,” Certonio said.

Dr. Howard McLeod, Executive Clinical Director for Precision Health, said Intermountain Healthcare aims to address health issues by intervening early. He said no one wants risk, but risk is part of life.

“So knowing ahead of time, means being able to plan means being able to intervene and leading to a person being able to live their healthiest life, which is really the goal that we're all trying to achieve,” McLeod said.

Caroline Long is a science reporter at UPR. She is curious about the natural world and passionate about communicating her findings with others. As a PhD student in Biology at Utah State University, she spends most of her time in the lab or at the coyote facility, studying social behavior. In her free time, she enjoys making art, listening to music, and hiking.