Intermountain Healthcare undertaking world’s largest pediatric DNA mapping effort

Intermountain Healthcare is taking part in the the world’s largest DNA mapping effort ever to be undertaken in children. Photo Courtesy: Intermountain Healthcare

SALT LAKE CITY, Utah, Feb. 3, 2021 (Gephardt Daily) — Intermountain Healthcare is undertaking the the world’s largest DNA mapping effort ever to be undertaken in children, according an IHC news release.

Families and children are invited to participate in the groundbreaking HerediGene: Children’s Study, which will involve the voluntary collection of 50,000 DNA samples of children as young as newborns, as well as their parents and siblings who wish to participate, at Intermountain Primary Children’s Hospital.

The population study aims to help children access future treatments and possible cures for genetic disorders, based on their unique DNA, the news release said.

“Information from the study will be used to help researchers at the Primary Children’s Center for Personalized Medicine and Intermountain Precision Genomics to better understand genetic diseases, which can be devastating and often, fatal, in children, and research new ways to treat them,”

The Center for Personalized Medicine is a collaboration between Primary Children’s Hospital, Intermountain Precision Genomics and pediatric specialists and researchers at University of Utah Health.

“This effort represents the largest population study of pediatric genetics and disease in the world,” said Dustin Lipson, administrator, Primary Children’s Hospital. “Results will inform and transform genetic research and applied genomic medicine at Primary Children’s Hospital and across the U.S. for years to come.”

The children’s study is part of HerediGene: Population Study, a global initiative led by Intermountain Precision Genomics, to collect samples from 500,000 participants and discover new connections between genetics and human disease.

In June of 2019, Intermountain Healthcare and deCODE genetics announced a collaboration on the initiative representing the largest and most comprehensive DNA mapping effort in the United States from a single population.

“There has never been a children’s study of this breadth and depth from a single institution,” said Lincoln Nadauld, MD, PhD, oncologist and vice president and chief of precision health and academics at Intermountain Healthcare. “This tremendous undertaking is groundbreaking, innovative, and represents the most cutting-edge science underway in medicine today. The HerediGene: Children’s Study will transform our ability to diagnose and even prevent future diseases in children and families, representing the most compassionate application of precision medicine today.”

As with the HerediGene: Population Study, Intermountain teams will work with deCODE genetics to map the genomes of participants by collecting a sample of blood, the news release said. In children, the sample size is small, less than one teaspoon. Like the adult population study, the children’s study is voluntary and free to participants. Children and their family members do not have to be patients at Primary Children’s Hospital.

Participants in the study and their medical information will be de-identified to ensure anonymity before it is utilized in research to help medical professionals better understand the human genome. A small percentage of participants, including children, will have the option to receive their genetic results report if a clinically significant gene mutation is identified.

For more information on additional study locations or to learn more about the HerediGene: Population Study, click here.


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