SALT LAKE CITY — A small blood sample, the size of a teaspoon, can help doctors gain access to roughly a terabyte-sized amount of data through DNA that can help them understand, treat and even prevent genetic disease. That's the idea behind Intermountain Healthcare's HerediGene children's study, the largest effort to map DNA in kids that could dramatically change the landscape of modern medicine.
Children of all ages, from newborns to teenagers, are now eligible to participate in the HerediGene study that was previously only available to adults, doctors with Intermountain Healthcare announced Wednesday. In June of 2019, Intermountain partnered with deCODE genetics for the adult HerediGene project, which recently hit 50,000 participants; researchers are still looking for more adults to take part in that study as well.
The study is centered around protecting the health of future generations by better understanding diseases like epilepsy, asthma and cancer, to name a few.
Data from the study will be used to help researchers at Primary Children's Center for Personalized Medicine and Intermountain Precision Genomics analyze and research new treatments for devastating and fatal diseases in children. Researchers are looking to collect samples from at least 50,000 children and their parents for the study. There are no exclusions and no cost to participate.
The study is a "game changer" of global significance, according to Dr. Josh Bonkowsky, professor of pediatrics at University of Utah Health and director of Primary Children's Center for Personalized Medicine.
"There's nothing like this in the world," he said.
Until now, understanding disease and trying to treat it has been limited by a myriad of factors. This study, Bonkowsky said, will help remove some of the fog.
"We will learn which medicines are best and how to prevent the diseases of our parents and grandparents," he said, while noting that future generations will look back at the study as "the start of a new chapter in medicine and health."
The study will help discover new diseases, help physicians understand why some children are more at risk for certain diseases and how environmental and lifestyle factors can contribute to disease. The goal is to protect future generations and ensure individuals live the healthiest lives possible, said Dr. Lincoln Nadauld, oncologist and chief of precision health and academics at Intermountain Healthcare.
Privacy of participants is crucial to researchers, which is why an entire ethical committee was formed to keep patient interests and safety in mind and protect their data, Bonkowsky said. While patient data is collected when their sample is taken, it will be anonymous when the analysis is done and will be of no risk to a hacker that could potentially gain private patient data in the system, he said.
"We're very serious about protecting the safety and the privacy of everyone who participates in this study," Bonkowsky said.
As the samples are tested and analyzed, it's likely the results will reveal some participants have genetic diseases that might significantly impact the child's life. In fact, Nadauld is sure of it. "That will happen," he added. That's why the hospital has an entire team of genetic counselors with decades of experience available to approach the situation with families.
Understanding DNA will help bring clarity for families — and it won't always be good news — but it will inform families on what their child is at risk for and what can be done to help the situation, Intermountain President and CEO Dr. Marc Harrison said. In its simplest form, it will bring answers.
"This has incredible results," said Dustin Lipson, an administrator with Primary Children's Hospital. "Most importantly, it reduces the suffering of children. It also improves the quality of life for a family."
The study is altruistic, Nadauld said, and it will take the best of what science has to offer and use it to help children. "We are going to benefit from it for years," he said.
Those interested in enrolling in the study can do so here.