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Genetic Medicine Expansion at Intermountain Primary Children’s Thanks to $9 Million Infusion

July 26, 2024
in News
Genetic Medicine Expansion at Intermountain Primary Children’s Thanks to $9 Million Infusion
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“Primary Children’s Gene Kids” is a three-year, major pediatric genomics initiative to help children with genetic conditions at Intermountain Primary Children’s Hospital.

Genome sequencing is being upgraded and expanded to more kids through Intermountain Primary Children’s Hospital and the University of Utah Health Department of Pediatrics thanks to a $9 million infusion to the Intermountain Primary Children’s Center for Personalized Medicine.

The infusion, the largest in the center’s history, will be used to create “Primary Children’s Gene Kids,” a three-year, major pediatric genomics initiative to help children with genetic conditions.

Primary Children’s Gene Kids aims to broaden access to genome sequencing for children and infants across the Intermountain West. The genome result would be returned rapidly to the child and their family and become a life-long resource as their “personal genome.”

Gene Kids will help young patients in cardiology, genetics, neuromuscular diseases, and neurology, as well as infants in the hospital’s newborn intensive care unit. Potential program participants will be identified by their providers.

Primary Children’s Gene Kids is made possible by a $4.5 million grant from The Warren Alpert Foundation, which was matched by generous philanthropic donations to Intermountain Health’s Primary Promise campaign to create the nation’s model health system for children.

“With Gene Kids, we will strive to reach every child and family in need, regardless of their location, through research, discovery, and innovative therapies that lead to better outcomes,” said Dustin Lipson, president of Intermountain Primary Children’s Hospital. “We are grateful for the support from The Warren Alpert Foundation and other generous community members who are helping us take Personalized Medicine to the next level, inspire hope, and advance science to help children in the years to come.”

The Warren Alpert Foundation focuses on improving the health of the public through grants and programmatic activities that progress toward attaining or perfecting medical treatments or cures through basic research, translational and outcomes research, and health education.

More than 7,000 genetic diseases have been discovered. However, cures have been created for a few, and many children with debilitating and sometimes fatal genetic diseases do not have a diagnosis due to the evolving field and challenges in accessing testing and specialized pediatric expertise.

Primary Children’s Gene Kids aspires to change that by:

Providing whole genome sequencing to all children who have a suspected genetic disorder. This includes children in all communities, regardless of race, ethnicity, location, or financial need.
Reaching more children and enhancing their care by using innovative computational tools, including University of Utah Health genomic data tools and AI.
Providing every sequenced child and their family with their “personal genome,” available for life-long healthcare use.

Gene Kids will also establish central research protocols, data sharing, and storage, and hire expert staff to broaden the reach of genomic testing in rural clinics and underserved areas.

“We hope that Gene Kids will help reduce the length of the diagnostic odyssey for children and their families,” said Joshua Bonkowsky, MD, PhD, University of Utah Health and medical director of the Center for Personalized Medicine at Intermountain Primary Children’s Hospital. “In times when an immediate diagnosis isn’t possible, a child’s data will be reanalyzed later in hopes of providing a diagnosis in the future.”

That kind of reanalysis was life-changing for 7-year-old Scarlet Hill.

Scarlet was born with an unknown genetic disorder that causes developmental delays and seizures. Whole genome sequencing, conducted at Intermountain Primary Children’s Hospital when she was an infant, didn’t yield a diagnosis. But it gave her care team a roadmap to minimize seizures, and helped Scarlet learn to walk and talk, ride a bike – and develop a love for going to school.

Earlier this year, Dr. Bonkowsky recommended Scarlet try genetic testing again.

The results yielded a long-awaited diagnosis: Gene TUBB2B Tublinopathies, a group of conditions caused by variants in six tubulin genes that affect brain development and function.

“We have more answers now and a small community of kids with the same diagnosis to have support and greater understanding of things to expect,” said Scarlet’s mom, Cassandra Hill.

“It has been awesome.”

Scarlet’s family, who lives in Eden, Utah, has connected with a couple hundred other families with kids like Scarlet around the world, to share experiences and support one another.

“We are learning so much about the gene,” the mother said. “It’s so cool to see, some of the other kids and their similarities to Scarlet – and also differences.”

Primary Children’s Center for Personalized Medicine is an open, collaborative partnership between Primary Children’s Hospital and University of Utah Health. Launched in 2019 with funding from Intermountain Foundation, the Center for Personalized Medicine leads efforts to transform pediatric medicine by advancing genetic testing and developing new gene therapies.

The Center for Personalized Medicine is part of Intermountain Health’s Primary Promise, Intermountain’s historic campaign to build the nation’s model health system for children. This once-in-a-lifetime opportunity to invest in the future of our children’s health has surpassed the minimum goal of $600 million in a powerful partnership between philanthropic members of the community and Intermountain Health. Primary Promise philanthropic efforts continue to fuel critically needed research to help children survive and thrive.

Primary Children’s Gene Kids is one of several innovative initiatives recently adopted by the Center for Personalized Medicine.

Intermountain Children’s Health recently partnered with Broad Clinical Labs and Fabric Genomics, a leader in AI-powered, next-generation sequencing interpretation, to help speed diagnosis of infants with genetic diseases, starting at Intermountain Primary Children’s Hospital.

The partnership provides a “sample-to-report” genome service, a low-cost, fast, and more precise identification of genetic disorders within days, rather than weeks or months. It also allows caregivers to create treatment plans tailored to the unique genetic makeup of each infant.

About Intermountain Health

Headquartered in Utah with locations in seven states and additional operations across the western U.S., Intermountain Health is a nonprofit system of 33 hospitals, 385 clinics, medical groups with some 3,900 employed physicians and advanced care providers, a health plans division called Select Health with more than one million members, and other health services. Helping people live the healthiest lives possible, Intermountain is committed to improving community health and is widely recognized as a leader in transforming healthcare by using evidence-based best practices to consistently deliver high-quality outcomes at sustainable costs. For more information or updates, see https://intermountainhealthcare.org/news.

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