Groundbreaking Children’s Genomics Study at Intermountain Primary Children’s Hospital Reaches Enrollment Milestone

Scarlett HIll and Josh Bonkowsky, MD, PhD.

Intermountain Healthcare’s groundbreaking HerediGene: Children’s Study -- the world’s largest DNA mapping effort ever to be undertaken in kids -- has reached a milestone of 2,500 enrollments.

The increase in children participating in this pioneering study gives researchers more information to understand the causes of genetic diseases and discover treatments to help children thrive.

"The involvement of so many children and families in this study is really powering progress," said Josh Bonkowsky, MD, PhD, professor of pediatrics at University of Utah Health and director of Primary Children’s Center for Personalized Medicine. "It shows how our community is partnering to transform discovery and opportunities for treatments for pediatric diseases."

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

The 2,500 patients enrolled in the study includes both pediatric patients and parents who participated with their children. The adult samples will ultimately contribute to the 500,000 adults sought to participate in the HerediGene: Population Study.

Family participation in the study adds genetic information to help researchers at the Intermountain Primary Children’s Center for Personalized Medicine, in collaboration with pediatric physicians and scientists from University of Utah Health, and Intermountain Precision Genomics better understand genetic diseases in children, including five-year-old Scarlet.

Scarlet has an undiagnosed genetic disorder that causes developmental delays and seizures, said her mother, Cassandra Hill. Scarlet is making great strides in her development, including learning to walk and talk, with the help of experts at Primary Children’s Hospital, and she loves school.

Hill says Scarlet is participating in the study to help children like her access treatments in the future.

"We hope Scarlet’s participation in the study will be able to help other children, and help researchers determine whether she’s likely to suffer from other medical conditions due to her genetic disorder," Hill said. "Knowledge is power."

Over the last 18 months, enrollment in the study has grown, and new ways have been developed for children to participate at Primary Children’s Hospital’s outpatient lab, emergency room, clinics, and inpatient units; as well as at St. George Regional Hospital and Utah Valley Hospital’s labor and delivery departments, NICU, and well-baby nurseries.

Children don’t have to be Primary Children’s Hospital patients to participate in the study, and no appointment is necessary.

Families are invited to come to the Eccles Outpatient Lab at Primary Children’s Hospital where their children can provide DNA samples in one of three ways:

  • If a doctor has requested blood lab work, the child can participate by giving a small amount of additional blood.
  • If a child isn’t having lab work done, they can participate with a simple cheek swab or by giving a small amount of blood.
  • If a child has had blood drawn within the past 14 days, any remaining blood from tests may be used toward the study.

For more information on Intermountain’s HerediGene: Children’s study, please visit, email, or call (833) 698-1727.



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Largest DNA mapping effort ever undertaken in kids reaches 2,500 enrollees