Utah researchers launch world’s largest gene-mapping study for kids, seek 50,000 volunteers

Doctors hope to find genetic markers to identify cancer, heart disease and other disorders.

(Photo courtesy of Intermountain Healthcare) Dr. John Bonkowsky, director of Intermountain Primary Children’s Hospital’s Center for Personalized Medicine, is one of the researchers involved in Intermountain's HerediGene: Children's Study, the largest genetic mapping study of children ever. The study is seeking 50,000 volunteers.

The largest genetic mapping study involving children is being launched in Utah, and researchers want 50,000 children and their parents to volunteer to take part.

“The technical term, I believe, is humongous. This is huge. This is a game changer,” said Dr. Josh Bonkowsky, director of the Center for Personalized Medicine at Primary Children’s Hospital.

The goal of the HerediGene: Children’s Study is to “identify, treat and hopefully prevent a disease burden that today is just fate,” said Dr. Marc Harrison, Intermountain’s president and CEO.

By mapping the genome, Harrison said, researchers hope to identify people who are at higher risk for such ailments as cancer, neurodegenerative diseases and heart disease, among others.

“We can identify diseases before the worst outcomes happen,” said Dr. Lincoln Nadauld, an oncologist and vice president and chief of precision health and academics at Intermountain Healthcare.

Researchers are seeking 50,000 volunteers — from newborns to 18 years old, and their families — to take part. Bonkowsky said study subjects would be asked to give a small blood sample, “less than a teaspoon,” he said, from which DNA would be extracted and sequenced.

“The amount of information in that teaspoon’s worth of blood is a terabyte of data,” Bonkowsky said, “a large, ‘War and Peace’-sized book’s worth of data.”

There are no exclusions to who can volunteer, said Bonkowsky, who is also a professor of pediatrics at University of Utah Health. Children of all ages, ethnic groups or family income levels can take part. For information about the study, go online to intermountainhealthcare.org/heredigene.

Nadauld said the study is an extension of the HerediGene study for adults, launched in June 2019. In its first 18 months, Nadauld said, more than 50,000 adults have enrolled in the first HerediGene study — and the success there prompted researchers to try the same program with children.

It could take up to five years to find all the volunteers the study needs, Nadauld said. “The good news is we don’t have a deadline,” he said.

Once the samples are collected, though, “the gene sequencing will happen very rapidly,” he said, in a matter of months.

Information from the study will aid researchers at the Center for Personalized Medicine and Intermountain Precision Genomics to understand and treat genetic diseases. The center is a collaboration between divisions of Intermountain and University of Utah Health.