Luca Brunelli and Sabrina Malone Jenkins tend to an infant in the newborn intensive care unit. A donation from the Mark and Kathie Miller Pediatric Genomics Fund will allow NeoSeq researchers to test more NICU infants for genetic disorders, says NeoSeq principal investigator Dr. Sabrina Malone Jenkins. (Charlie Ehlert)
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SALT LAKE CITY – When a child or infant has a rare disease, getting a diagnosis can be a significant hurdle to finding the best treatment.
Families often visit several doctor’s offices and specialists to learn how best to help their child. In today’s world, a detailed look at genetics can be the end of their 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 get diagnosed through two University of Utah health programs , the Utah NeoSeq project and the Penelope program, according to U. Health executives.
Both organizations will be able to use these funds to expand testing and diagnostic work. Utah NeoSeq helps bring rapid diagnostics to infants in neonatal intensive care units, and the Penelope program provides detailed assessments for children with undiagnosed chronic conditions.
“We are thrilled to be part of this extraordinary program,” philanthropists Mark and Kathie Miller said in a joint statement. “We are convinced that he will become a resource and a model for the whole country.”
More than 7,000 genetic diseases have been discovered. Once a child has a firm diagnosis, it’s possible treatment could restore them, Dr. Lorenzo Botto said. Other times, the diagnosis allows for more personalized treatment and better outcomes.
Botto is the medical director of the Penelope Project, a joint program with Primary Children’s Hospital, to diagnose children who have already been evaluated by multiple doctors and still don’t know what is causing chronic illness.
He believes everyone should have access to diagnostic care, including genetic diagnosis. The Penelope Project helps close gaps in care and medical inequities by combing through a patient’s genetic information for clues that may lead to a diagnosis.
About 50% of the 119 patients the project has assessed since 2016 have received a firm diagnosis; others received valuable information about diseases they could rule out.
Not only can a genetic diagnosis help a person get treatment, but it can also prevent unnecessary or harmful treatment. Botto recalled a case where doctors suspected a child had a condition that carried a high risk of childhood cancer. A diagnosis of a different condition allows the family to skip tests that monitor cancer, which would be both an emotional and financial burden on the family.
He said families usually ask themselves three questions: what is the cause of the disease, what they can do for their child and if there is a chance that other children in the family will have the same disease. .
Botto said a diagnosis brings peace of mind because most families have the worst-case scenario in mind, and a diagnosis can bring them back to reality. He said most families are incredibly grateful for the results.
“You can imagine how lonely this diagnostic odyssey could be, you know, 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 can connect to other families who have had the same. Not knowing what you have, we were told, is a very lonely experience,” said Bottom.
The project’s work with patients also has a broader purpose. Because it finds people with extremely rare or even new diseases, the Penelope Project can provide information to the community and researchers can share what they learn about the diagnosis and treatment of rare diseases.
“There are only a limited number, so every case matters, every family matters to learn new things that can also 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 could not pay for genetic testing themselves or through insurance.
About one in four newborns who are treated in an intensive care unit are suspected of having a genetic condition, according to Dr. Sabrina Malone Jenkins, a U. Health neonatologist.
Getting a diagnosis to help tailor treatment can take weeks or years of computer analysis. The longer a diagnosis takes, the more valuable time is wasted before a child receives appropriate care.
Utah NeoSeq was founded by the Center for Geonomic Medicine, of which the Penelope Project is a part, and ARUP Laboratories in 2020 to solve this problem. With this partnership, a diagnosis can arrive in less than a week.
Not knowing what you have, we were told, is a very lonely experience.
–Dr. Laurent Botto
U. Health officials said NeoSeq diagnosed about 35% of its patients through blood samples from infants and their parents, helping 55 families get answers.
Malone Jenkins, who is the principal investigator of NeoSeq, said this research is life changing for families and they are grateful for the support.
“It allows the care team to identify what is wrong with the baby and to personalize any treatment that may be offered. It also provides some clarity for a family to help them understand why their baby is so sick and why they’re in the NICU. It gives families and caregivers a roadmap of what to expect moving forward,” she said.
The Millers’ donation will help NeoSeq test more infants and perform more extensive genomic sequencing so they can find even rarer diseases.
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