HerediGene: Children’s Study study enrolls 1,000th participant

How your family can participate
Posted at 1:30 PM, Mar 03, 2022
and last updated 2022-03-03 15:30:11-05

The groundbreaking HerediGene: Children’s Study – the world’s largest DNA mapping effort ever to be undertaken in kids – has more than 1,000 children signed up to participate in its first year.

Launched in late 2020 by Intermountain Healthcare, The HerediGene: Children’s Study aims to collect and analyze 50,000 DNA samples of children. The goal of the study is to help understand and work on future treatments and possible cures for genetic disorders, based on the unique DNA sequences.
Information from the study will be used to help the team of researchers and physicians to better understand genetic diseases, which can be devastating and often fatal, in children, and research new ways to diagnose and treat them.

"The genomic information we are studying is critical for discovering the causes of disease, understanding the risks, and finding treatments to keep people healthy,” said Josh Bonkowsky, MD, PhD, professor of pediatrics at University of Utah Health and director of Primary Children’s Center for Personalized Medicine.

“The discoveries from the Heredigene: Children’s Study will transform the treatments and care for children. That’s why our team has worked to make it as easy as possible for children and adults to participate. Children or adults don’t even need to be patients and can walk in without an appointment or any scheduling. There are no pre-requirements, and there is no cost or charge. If they want, children can even choose a cheek swab instead of a blood draw.”

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

Launched in June 2019, the collaboration between Intermountain Healthcare and deCODE genetics represents the largest and most comprehensive DNA mapping effort in the United States from a single population.

“We believe the HerediGene: Children’s Study, along with the HerediGene: Population Study, will help children and families avoid the worst complications of disease and help to develop treatments for previously difficult-to-treat conditions,” said Lincoln Nadauld, MD, PhD, principal investigator for HerediGene and chief of precision health and academics for Intermountain Healthcare. “At its very core, the study will help to protect the health of future generations.”
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.

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