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Groundbreaking children’s genomics study underway at Intermountain Primary Children’s

Salt Lake City — The groundbreaking HerediGene: Children’s Study, the world’s largest DNA mapping effort ever to be undertaken in kids, is now offering additional collection methods for children to participate at Intermountain Primary Children’s Hospital, including a new simple cheek swab.

Launched in late 2020 by Intermountain Healthcare, The HerediGene: Children’s Study aims to collect 50,000 DNA samples of children (newborn to 18 years old) to help children access future treatments and possible cures for genetic disorders, based on their unique DNA. 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 the University of Utah Health.

Children are invited to join their parents in the study through several collection methods:

  • If a doctor has requested blood lab work for the patient, the child can participate by giving a small amount of additional blood (up to approximately 2.5 teaspoons).
  •  If a child isn’t having lab work done, they can participate by giving a small amount of blood (up to 2.5 teaspoons) or with a simple cheek swab where a team member rubs the inside of his or her cheek to collect a sample (this option is only available for children under 18 years). This is a new option.
  • If a child has recently had lab work done (less than 14 days before), any remaining blood from tests may be used toward the study.

The study is open to anyone. Children do not need to be a patient of Primary Children’s to participate.

“In my work at Primary Children’s and as a father, I know that asking children to volunteer for a shot or a ‘poke’ to draw blood is a tall order,” says Dustin Lipson, administrator of Primary Children’s Hospital. “These new painless, convenient options and opportunities will remove barriers to participating in the study. This will give our researchers the information they need to discover and develop better treatments for kids and save lives.”  

Craig and Elissa Smith, parents from Bountiful, Utah, recently participated in the study alongside their 14-year-old son, Craige, who joined and provided a blood sample, though he wasn’t a current patient at Primary Children’s Hospital.

“You just know, at the end of the day, you’re helping someone maybe get cured from cancer. If it could save my kids’ lives, why not?” says Smith.

Cancer is familiar to the family as the children’s grandfather has been receiving treatment for lung cancer. He is being treated with personalized medicine with Intermountain Precision Genomics.

“The genomic information we are studying is very important for understanding the causes and risks for disease, and how to keep people healthy. The discoveries from the Heredigene: Children’s Study will transform the treatments and care for children,” says Josh Bonkowsky, MD, PhD, professor of pediatrics at University of Utah Health and director of Primary Children’s Center for Personalized Medicine.

“That’s why our team has worked to make it as easy as possible for children and adults to participate. There are no requirements. Children or adults don’t even need to be patients and can walk in without an appointment or any scheduling,” he adds.

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 the disease and help to develop treatments for previously difficult-to-treat conditions. At its very core, the study will help to protect the health of future generations,” says Lincoln Nadauld, MD, PhD, principal investigator for HerediGene and chief of precision health and academics for Intermountain Healthcare. 

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.

Intermountain Precision Genomics is a service of Intermountain Healthcare. For more information about IPG, please visit: intermountainhealthcare.org/genomics.

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