SALT LAKE CITY — Utah researchers are seeking young volunteers from newborns to teenagers for what’s being called the world’s largest pediatric DNA mapping study to help prevent, identify, treat and even cure often fatal genetic diseases.
“By collecting genetic material from children, we change their fate. Genes, to a large extent, predict how healthy people are going to be,” Dr. Marc Harrison, Intermountain Healthcare president and CEO, told reporters Wednesday while announcing the “HerediGene: Children’s Study.”
The effort to examine the genetic makeup of 50,000 children, a collaboration between Intermountain Healthcare, University of Utah Health and Primary Children’s Hospital, is part of a larger genetic study announced in mid-2019 that involves 500,000 participants.
Harrison said the research will help not only the individual participants who are identified as genetically predisposed to cancer and other deadly diseases, hopefully preventing “enormous amounts of human suffering,” but also others around the world as it is shared.
Dr. Josh Bonkowsky, U. Health professor of pediatrics and director of the Primary Children’s Center for Personalized Medicine, said the size and scope of the study is unique. He joked that the “technical term, I believe, is that this is humungous. This is a game-changer.”
There is a potential that new cures will be found, Bonkowsky said.
“Until now, understanding disease or trying to treat it has been limited. With the children’s study, we can remove the fog that has blocked our view. We can see and plot our course,” he said, to better take on diseases including seizures, autism, heart disease, cancer, risk for infections as well as depression and other mental illnesses.
“We can understand why some children and their families are more at risk. We can learn how our environment or how our lifestyles lead to disease or how we can manage that for better health. We’ll learn which medicines are best, and how to prevent the diseases of our parents and grandparents,” Bonkowsky said.
Dr. Lincoln Nadauld, oncologist and Intermountain Healthcare vice president and chief of precision health and academics, said it may take as long as five years to enroll 50,000 newborns, children, adolescents and teenagers in the study.
Nadauld said it’s already known that patients can inherit cancer risks, but through the study, he anticipates discovering “inherited cancer risk genes.” Patients with that gene could be screened, he said, “so that we would find any cancer at a very early stage when it’s easy to treat.”
As an oncologist, Nadauld said he’s “really troubled “ by the number of young patients who die because they weren’t diagnosed with breast, colon or other deadly cancers until the disease has progressed to a late stage that is incurable.
“It takes their lives and it’s unnecessary. Unbeknownst to them, they have inherited a genetic predisposition to those kinds of cancers and they walk around without any awareness until they’re finally diagnosed,” Nadauld said.
But after this study, that won’t have to happen.
“We will understand and help patients understand what their risks are,” he said. “We can identify diseases before the worst outcomes of those happen. We can in many cases prevent diseases altogether.”
Counseling patients and their families about being at risk for a particular disease is already being done by the medical institutions, Nadauld said.
“That’s something we have become good at. We have a whole team of genetic counselors,” he said, with decades of experience. “That will happen. We will identify genes in children whose effects may not take place for years. We’re good with sitting down with families and parents and those involved and talking through the implications.”
Safeguards are in place to protect the privacy of participants, Bonkowsky said.
As with the larger HerediGene study, Intermountain teams will work with Iceland-based deCODE genetics, viewed as a global leader in genome research, to map the genomes of participants by collecting a sample of blood, less than a teaspoon for children.
Participation in both the adult and child studies is voluntary and free, and children do have to be patients at Primary Children’s Hospital. Researchers said they are looking for a wide range of child involvement, including from those who are healthy.
Information about the study, including a list of locations where those who want to participate can donate a blood sample without an appointment, is available online at intermountainhealthcare.org/heredigene.