The University of Utah Health continues to blaze trails in human genetics, showcasing its commitment to genomic medicine at the 2025 Genomic Medicine Symposium. This prestigious event, co-hosted with the Center for Personalized Medicine at Primary Children’s Hospital, served as a nexus for researchers to share strategies, celebrate achievements, and forge new partnerships in the field of genetic health.
Significant advancements in research and technology have positioned genetic medicine as a potent solution for previously daunting challenges. Rapid diagnosis of rare diseases and a deeper understanding of complex human traits are among the many possibilities that genomic medicine offers today.
One of the key themes of the symposium was the urgent need for early diagnosis in critically ill infants. In such cases, every moment counts. Providing a diagnosis as rapidly as possible not only helps doctors deliver optimal care, but also offers parents vital information regarding their child’s condition.
Central to this discussion was the innovative approach of using rapid whole-genome sequencing and analysis to expedite the diagnostic process. Briana Sawyer, CGC, genetic counselor at the Heart Center Cardiac Genetics Program, outlined the positive outcomes of implementing whole-genome sequencing for infants with isolated congenital heart defects in the cardiac ICU.
Sawyer emphasized that thanks to advancements in genomic sequencing technology, this method provides comparable cost and turnaround times when stacked against traditional genetic analyses. As a result, whole-genome sequencing can uncover diagnoses that may otherwise remain elusive.
The initiative was further exemplified by Rachel Palmquist, CGC, assistant professor of pediatrics at U of U Health and genetic counselor at Intermountain Health. She discussed the launch of the Primary Children’s Gene Kids project, designed to expand genome sequencing for all children in the Mountain West who need it. Since its enrollment began in September 2024, the program has attracted over 700 referrals.
Bennet Peterson, PhD, a postdoctoral researcher in human genetics at U of U Health, provided insights into a program he developed to pinpoint newborns who are most likely to benefit from whole-genome sequencing. This program utilizes clinic notes to swiftly identify infants in need of screening, facilitating quicker testing and alleviating pressure on healthcare providers.
Transitioning from rapidly diagnosing physical health conditions, researchers also turned their attention to the intricate genetic underpinnings of psychological disorders that are notoriously tough to treat or predict. Adrian Rothenfluh, PhD, associate professor of psychiatry at the University of Utah, conveyed his lab’s exploration into addiction, a behavior also present in fruit flies. These creatures share numerous genes related to substance abuse, and Rothenfluh has utilized their brief lifespans to expedite research into addiction biology.
In a related vein, Hilary Coon, PhD, professor of psychiatry at Huntsman Mental Health Institute, presented her investigation on suicide risk factors. By integrating health records with DNA samples, she’s studying the diverse influences that may contribute to suicide, discovering that both neuropsychiatric and physical health conditions play crucial roles.
The symposium also highlighted promising developments in personalized medicine, particularly regarding diseases that arise post-infancy. Sam Cheshier, MD, PhD, an associate professor of neurosurgery and an investigator at the Huntsman Cancer Institute, is conducting research on pediatric brain tumors at the single-cell level. His efforts to pinpoint unique genetic vulnerabilities within tumors aim to tailor cancer drug treatments to individual patients more effectively.
Cheshier plans to further innovate his research by incorporating artificial intelligence into the drug selection process, maximizing the impact of his findings at scale.
Additionally, Bradley Hunter, MD, provided updates on an exciting initiative at Intermountain Health that applies CAR-T therapy to treat autoimmune diseases. This method leverages one segment of the immune system to combat another, with early results indicating impressive success in managing conditions like lupus.
The gathering was characterized by a palpable sense of urgency and possibility as experts exchanged ideas and tools. Angelo Giardino, MD, PhD, concluded the day’s discussions with an uplifting message, stating, “The work you do is so inspiring. You’re really at the forefront of where medicine is taking us. There are a lot of challenges we’re facing, but I think we’re up to the task.”
As researchers at the University of Utah Health, alongside their partners, delve deeper into the capabilities of genetic medicine, the landscape of healthcare continues to transform, promising a future marked by enhanced diagnosis and targeted treatment strategies for patients across various backgrounds and conditions.
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