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SALT LAKE CITY — When a child or infant has a rare disease, getting a diagnosis can be a significant hurdle before finding the best treatment.
Families often go to multiple doctors' offices and specialists to learn how to best help their child. In today's world, a detailed look at genetics can lead to 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 reach a diagnosis through two University of Utah Health programs, the Utah NeoSeq Project and the Penelope Program, according to U. Health leaders.
Both organizations will be able to use these funds to expand testing and diagnostic work. Utah NeoSeq helps bring quick diagnoses to infants in newborn intensive care units, and the Penelope Program provides detailed evaluations for children with undiagnosed chronic diseases.
"We are excited to be a part of this extraordinary program," philanthropists Mark and Kathie Miller said in a joint statement. "We are confident it will become a resource and a model for the entire country."
Penelope Project
There are over 7,000 genetic conditions discovered. Once a child has a firm diagnosis, there is a possibility treatment can restore them to health, said Dr. Lorenzo Botto. Other times, the diagnosis allows for more personalized treatment and better outcomes.
Botto is the medical director for 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 disease.
He believes everyone should have access to diagnostic care — including a genetic diagnosis. The Penelope Project helps fill gaps in care and medical inequities by combing through a patient's genetic information for clues that could 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 about diseases they could rule out.
Not only can a genetic diagnosis help someone get treatment, it can prevent unnecessary or harmful treatment. Botto recalled one instance where doctors suspected a child had a condition that brings a high risk of childhood cancer. A diagnosis of a different condition let the family skip tests that monitor for cancer, which would be both an emotional and financial burden to the family.
He said families typically come with three questions: What is causing the illness, what they can do for their child and whether there is a probability of other children in the family having the same disease.
Botto said a diagnosis brings peace of mind, as most families have the worst case scenario in their 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, you know, might 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 they can connect to other families who have had the same thing. Not knowing what you have, we have 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 can provide information to the community and the researchers can share what they learn about diagnosis and treatment for rare diseases.
"There's only so many, so every case counts, every family counts to learn new things that can help also benefit others," Botto said.
He said the multiyear contribution from the Miller family will allow the project to grow over time, and help more patients who could not pay for genetic testing on their own or through insurance.
Utah NeoSeq
About one in four newborns who are being treated in an intensive care unit are suspected to have a genetic disorder, according to Dr. Sabrina Malone Jenkins, U. Health neonatologist.
Getting a diagnosis to help tailor treatment can take weeks or years of computational analysis. The longer a diagnosis takes, more precious time is lost before an infant receives appropriate care.
Utah NeoSeq was founded by the Center for Geonomic Medicine, which the Penelope Project is part of, and ARUP laboratories in 2020 to address this issue. With this partnership, a diagnosis can come in less than a week.
Not knowing what you have, we have been told, is a very lonely experience.
–Dr. Lorenzo Botto
U. Health officials said NeoSeq has 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 for 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 personalize any treatment that can be offered. It also offers some clarity to a family that helps them understand why their baby is so sick and why they're in the NICU. It gives families and caregivers a roadmap of potentially what to expect moving forward," she said.
The Millers' donation will help NeoSeq test more infants and do more extensive genomic sequencing so they can find diseases that are even more rare.
