The donation will help more Utah families diagnose infants and children with genetic diseases

Luca Brunelli and Sabrina Malone Jenkins take care of an infant in the neonatal intensive care unit. A gift from the Mark and Cathy Miller Pediatric Genomics Fund will allow NeoSeq researchers to test more NICU babies for genetic disorders, says Dr. Sabrina Mallon-Jenkins, NeoSeq’s principal investigator. (Charlie Eilert)

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Salt Lake City – When a child or infant has a rare disease, getting a diagnosis can be a huge hurdle before finding the best treatment.

Families often go to the many offices of doctors and specialists to find out the best way to help their child. In today’s world, a detailed look at genetics can spell the end of their diagnostic search.

The Mark and Cathy 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: Utah Newsic Project and the Penelope programAccording to the health leaders of the U.S.

Both organizations will be able to use these funds to expand their testing and diagnostics business. Utah NeoSeq assists in rapid diagnosis of infants in neonatal intensive care units, and the Penelope Program provides detailed evaluations of infants with undiagnosed chronic diseases.

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

Penelope Project

More than 7,000 genetic conditions have been discovered. Dr. Lorenzo Botto said that once a child is diagnosed with certainty, there is a possibility that treatment can restore his or her health back to normal. Other times, the diagnosis allows for more personalized treatment and better outcomes.

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

He believes everyone should have access to diagnostic care – including a genetic diagnosis. The Penelope Project helps bridge gaps in care and medical disparities by combing a patient’s genetic information for clues that can lead to a diagnosis.

About 50% of the 119 patients the project has evaluated since 2016 received a strict diagnosis; Others received valuable information about diseases that could be excluded.

Not only does a genetic diagnosis help someone get treatment, but it can also prevent unnecessary or harmful treatment. Bhutto referred to one case in which doctors suspected a child had a condition that would lead to a high risk of childhood cancer. Being diagnosed with a different condition allows the family to skip tests that detect cancer, which would be an emotional and financial burden on the family.

He said families usually come in with three questions: what causes the disease, what they can do for their children and whether there is a possibility that other children in the family may have the same disease.

A diagnosis brings peace of mind, Bhutto said, because most families have a worst-case scenario in their minds, and a diagnosis can bring them back to reality. He said most families are very grateful for the results.

“You can imagine how isolating that diagnostic journey is, you know, for families. I mean, one of the strengths of the world of rare diseases is the sense of community that many families have when they know what they have and can connect with other families who have the same thing. We were told that Not knowing what you have is a very lonely experience.”

The project’s work with patients also has a broader purpose. As people are found with very rare or even new diseases, the Penelope Project can provide information to the community and researchers can share what they’ve learned about diagnosing and treating rare diseases.

“There’s just so much, so every case counts, every family is important to learn new things that can help others as well,” Bhutto said.

He said the multi-year contribution from the Miller family will allow the project to grow over time, helping more patients who cannot pay for genetic testing on their own or through insurance.

Utah Newsic

According to Dr. Sabrina Mallon Jenkins, a U-Health neonatologist, one in four newborns treated in the ICU is suspected of having a genetic disorder.

Getting a diagnosis to help customize treatment can take weeks or years of computational analysis. The longer a diagnosis takes, the more valuable time is lost before the infant receives appropriate care.

Utah NeoSeq was founded by the Center for Geographical Medicine, of which Project Penelope is a part, and ARUP Labs in 2020 to address this problem. With this partnership, a diagnosis can come in as little as a week.

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

-Dr. Lorenzo Botto

Health officials at the U.S.

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

“It allows the care team to determine what is wrong with the child and personalize any treatment that can be given. It also provides some clarity to the family that helps them understand why their child is so ill and why they are in the NICU. It gives families and caregivers a roadmap of what to expect moving forward forward.”

The Millers NeoSeq donation will help test more children and do more comprehensive genetic sequencing so they can find even the rarest diseases.


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

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