Donation will help more Utah families diagnose babies and children with genetic diseases

Luca Brunelli and Sabrina Malone Jenkins care for a baby in the newborn intensive care unit. A grant from the Mark and Kathie Miller Pediatric Genomics Fund will enable NeoSeq researchers to test more NICU babies for genetic disorders, says Sabrina Malone Jenkins, MD, NeoSeq principal investigator. (Charlie Ehlert)

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SALT LAKE CITY – When a child or infant has a rare disease, getting a diagnosis can be a major hurdle before finding the best treatment.

Families often go to various medical offices and specialists to learn how to best help their child. In today’s world, a close look at genetics can lead to the end of your diagnostic quest.

The Mark and Kathie Miller Pediatric Genomics Fund plans to contribute $3.6 million over the next five years to help children with chronic genetic disorders reach a diagnosis through two University of Utah Health programs, the Utah NeoSeq Project and the penelope programaccording to U. Health leaders.

Both organizations will be able to use these funds to expand testing and diagnostic work. Utah NeoSeq helps provide rapid diagnoses for babies in neonatal intensive care units, and the Penelope Program provides detailed evaluations for children with undiagnosed chronic conditions.

“We are thrilled to be a part of this extraordinary program,” philanthropists Mark and Kathie Miller said in a joint statement. “We are confident that he will become a resource and a model for the entire country.”

Penelope Project

There are more than 7,000 genetic conditions discovered. Once a child has a firm diagnosis, there is a chance that treatment will return them to health, said Dr. Lorenzo Botto. Other times, the diagnosis allows for more personalized treatment and better results.

Botto is the medical director of the Penelope Project, a joint program with the Primary Children’s Hospital, to diagnose children who have already been evaluated by several doctors and still do not know what is causing the chronic disease.

He believes that everyone should have access to diagnostic care, including a genetic diagnosis. The Penelope Project helps fill gaps in care and medical inequities by analyzing a patient’s genetic information for clues that may lead to a diagnosis.

About 50% of the 119 patients the project has evaluated since 2016 have received a firm diagnosis; others received valuable information on diseases that they could rule out.

A genetic diagnosis can not only help someone get treatment, but it can also prevent unnecessary or harmful treatment. Botto recalled a case in which doctors suspected a child had a condition that carries a high risk of childhood cancer. A diagnosis of a different condition allowed the family to skip cancer screening tests, which would place both an emotional and financial burden on the family.

He said families usually come with three questions: what is causing the illness, what can they do for their child, and whether other children in the family are likely to have the same illness.

Botto said a diagnosis provides peace of mind, as most families have the worst case scenario in mind, and a diagnosis can bring them back to reality. He said that most of the families are incredibly grateful for the results.

“You can imagine how lonely this diagnostic odyssey can be for families. I mean, one of the strengths in the world of rare diseases is the sense of community that many families have when they know what they have and are able to connect with others.” families who have had the same thing. Not knowing what you have, we’ve been told, is a very lonely experience,” Botto said.

The project’s work with patients also has a broader purpose. Because it is finding people who have extremely rare or even new diseases, the Penelope Project is able to provide information to the community and researchers can share what they learn about the diagnosis and treatment of rare diseases.

“There are so many, so each case counts, each family counts to learn new things that can also help benefit others,” Botto said.

He said the Miller family’s multi-year contribution will allow the project to grow over time and help more patients who cannot afford genetic testing on their own or through insurance.

Utah NeoSeq

About one in four newborns receiving treatment in an intensive care unit is suspected of having a genetic disorder, according to Dr. Sabrina Malone Jenkins, a neonatologist at U. Health.

Getting a diagnosis to help personalize treatment can take weeks or years of computational analysis. The longer a diagnosis takes, the more precious time is lost before a baby receives proper care.

Utah NeoSeq was founded by the Center for Geonomic Medicine, of which Project Penelope is a part, and ARUP Laboratories in 2020 to address this issue. With this association, a diagnosis can arrive in less than a week.

Not knowing what you have, we’ve been told, is a very lonely experience.

-Dr. low lawrence

U. Health officials said NeoSeq has diagnosed about 35% of its patients through blood samples from babies and their parents, helping 55 families get answers.

Malone Jenkins, who is the principal investigator for NeoSeq, said this research is life-changing for the families and they are grateful for the support.

“It allows the care team to identify what is wrong with the baby and personalize any treatment that may be offered. It also offers some clarity to a family that helps them understand why their baby is so sick and why they are in the NICU. It gives families and caregivers a roadmap of what to expect in the future,” he said.

The Millers’ donation will help NeoSeq test more babies and do more extensive genomic sequencing so they can find diseases that are even rarer.


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Emily Ashcraft joined as a reporter in 2021. She covers courts and legal matters, as well as health, faith and religious news.

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