Genomics

Intermountain Launches Precision Medicine Study on Genetic Diseases

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By Jessica Kent

– Intermountain Primary Children’s Hospital has launched the HerediGene: Children’s Study, an effort to speed the development of precision medicine therapies for children with genetic disorders.

The HerediGene: Children’s Study is the world’s largest DNA mapping effort ever undertaken in kids. The study will involve the voluntary collection of 50,000 DNA samples of children as young as newborns, as well as their parents and siblings who choose to participate.

The study will seek to help children find future treatments and possible cures for genetic disorders based on their unique DNA.

Data from the study will 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. The project will also focus on researching new ways to treat pediatric patients with genetic conditions.

The Center for Personalized Medicine is a collaboration between Primary Children’s Hospital, Intermountain Precision Genomics, and pediatric specialists and researchers at University of Utah Health.

“This effort represents the largest population study of pediatric genetics and disease in the world,” said Dustin Lipson, Administrator, Primary Children’s Hospital. “Results will inform and transform genetic research and applied genomic medicine at Primary Children’s Hospital and across the US for years to come.”

The new 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.

Patients’ contributions will help improve early detection and new treatment options for future generations of families in the US and around the world who are susceptible to conditions like cancer and heart disease.

Intermountain and deCODE genetics announced a collaboration on the initiative in June 2019, representing the largest and most comprehensive DNA mapping effort in the US from a single population.

“The HerediGene: Children’s Study is a transformative opportunity,” said Josh Bonkowsky, professor of Pediatrics at University of Utah Health and director of Primary Children’s Center for Personalized Medicine.

“Discoveries from the Children’s Study can be combined with extensive clinical data at Intermountain Healthcare and research insights from University of Utah Health. With this comprehensive approach, the genetic determinants leading to disease can be tackled, and novel and unexpected disease causes, and potentials for cures, can emerge.”

As with the HerediGene: Population Study, Intermountain will work with deCODE genetics to map the genomes of participants by collecting a sample of blood. In children, the sample size is less than one teaspoon. Like the adult population study, the children’s study is voluntary and free to participants. Children and their family members do not have to be patients at Primary Children’s Hospital.

Participants in the study and their medical information will be de-identified to ensure anonymity before it’s utilized 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.

The organization expects that the information collected from the study will help advance precision medicine treatments for genetics disorders.

“There has never been a children’s study of this breadth and depth from a single institution. This tremendous undertaking is groundbreaking, innovative, and represents the most cutting-edge science underway in medicine today,” said Lincoln Nadauld, MD, PhD, oncologist and vice president and chief of precision health and academics at Intermountain Healthcare.

“The HerediGene: Children’s Study will transform our ability to diagnose and even prevent future diseases in children and families, representing the most compassionate application of precision medicine today.”

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