Utah researchers are looking for children to participate in a free genetic study that may help them access future treatments and possible cures for genetic disorders based on their own unique DNA.

The HerediGene: Children’s Study is the world’s largest DNA mapping effort ever to be done in kids. Launched in 2020 by Intermountain Healthcare, the goal of the study is to collect 50,000 DNA samples in children up to the age of 18.

Information 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, said Travis Sheffield, the operations director of research for Intermountain Precision Genomics.

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.

Sheffield said the 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.

The study represents the largest and most comprehensive DNA mapping effort in the United States from a single population.

“We only need two-and-a-half teaspoons of blood from an adult and a cheek swab from a child,” he said. “If they agree to participate, we have them fill out consent forms. We then do genetic sequencing to determine if they have any inherited diseases. That DNA programming tells us exactly what’s wrong with you or if you might be at risk and we compare those gene mutations with a drug for that particular mutation.”

Sheffield said the test looks for hundreds of mutations including everything from cancer, vertigo, cardiovascular disease and more.

“We’re unlocking your DNA so one day our children and grandchildren won’t have to suffer like we did,” he said.

So far, 75,000 adults and 500 children have enrolled.

“The genomic information we are studying is very important for understanding the causes and risks for disease, and how to keep people healthy,” said  Dr. Josh Bonkowsky, a 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. There are no requirements. Children or adults don’t even need to be patients and can walk in without an appointment or any scheduling.”

Dr. Lincoln Nadauld, the principal investigator for HerediGene and chief of precision health and academics for Intermountain Healthcare, said the study will help children and families avoid the worst complications of disease and help to develop treatments for previously difficult-to-treat conditions. At its 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 used 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.

If something is found, the participant will be set up with a genetic counselor and asked some specific family history questions.

“Just because the test shows you have a particular gene for a particular disease doesn’t mean you are destined to get the illness. It may stay dormant your entire life, but you may pass that gene on to your child or grandchild, so if we can have multifamily generations to study, we can actually follow the genetic mutation and learn more about how these diseases are transmitted,” Sheffield said.

He added that if people know they have a particular mutation, they can take the result to their physician and have more regular checkups and screenings to be on the lookout for that disease.

“There are several ways we can collect data from people,” Sheffield said. “They can come into any IHC clinic or hospital lab and tell them they want to participate in the HerediGene study. We will also be approaching people who are already having their blood drawn in labs and ask them if they would like to participate.”

Sheffield also said patients who have had their blood drawn within seven days may be contacted by researchers to ask if they can take a sample from blood they have already given during that week.

Craig and Elissa Smith, of Bountiful, recently participated in the study alongside their 14-year-old son, Craig.

“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?” said the father, Craig Smith.

Sheffield said only participants who come back showing a genetic mutation for a disease will be contacted. If you don’t hear from them, nothing was found.

“I would love to see the day where a person can go into their doctor with an illness, and based on a particular mutation that was found, the exact right drug can be given to treat that disease,” he said.

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.

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

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

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