Photo supplied, Intermountain Health

More than 7,000 genetic diseases have been identified, but not enough cures have been created. That means many children with these debilitating illnesses are going without a diagnosis.

That’s about to change.

Intermountain Primary Children’s Hospital and the University of Utah Department of Pediatrics announced Friday they will be upgrading and expanding whole genome sequencing to more children throughout the Intermountain West. This is being made possible by a $4.5 million grant from The Warren Alpert Foundation, which matched other philanthropic donations.

The $9 million infusion is the largest in the center’s history and will be used to create Primary Children’s Gene Kids, a three-year pediatric genomics initiative to help children in cardiology, genetics, neuromuscular diseases and neurology, as well as infants in the hospital’s newborn intensive care unit. Once the sequencing is completed, the genome result will be returned quickly to the child and their family and become a lifelong resource as their “personal genome.”

“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, in a press announcement. “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.”

Photo supplied, Intermountain Health

Seven-year-old Scarlet Hill and her family, who live in Eden, have connected with about 200 hundred other families around the world who have children with similarities as well as differences to Scarlet, who was born with an unknown genetic disorder that causes seizures and delays in her development. As an infant, she had whole genome sequencing at Intermountain Primary Children’s Hospital, which wasn’t able to come up with a diagnosis. Her care team was given a roadmap to minimize the seizures and were able to help Scarlet learn to walk, talk, ride a bike and even love attending school.

After trying genetic testing again earlier this year, the results showed Gene TUBB2B Tublinopathies, a group of conditions caused by variants in six tubulin genes that affect brain development and function to be the cause.

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

According to Intermountain Health, Gene Kids will provide whole genome sequencing to all children who have a suspected genetic disorder no matter their race, ethnicity, location or financial need.

Researching more children and enhancing their care by using innovative computational tools also will be part of Gene Kids, including U of U Health genomic data tools and artificial intelligence.

Intermountain Health said in a statement that Gene Kids also will create central research protocols, data sharing and storage, and will have expert staff to broaden the reach of genomic testing in rural and underserved areas.

“We hope that Gene Kids will help reduce the length of the diagnostic odyssey for children and their families,” said Dr. Joshua Bonkowdky, 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.”

If interested in testing, contact your primary care provider for a referral.