Since the days of the Human Genome Project, University of Utah Health has been a leader in human genetics. U of U Health researchers have determined the genetic causes of diseases, pioneered precision-medicine strategies to bring the best care to every patient, and leveraged unique Utah databases to uncover fundamental facets of human biology.
Today, advances in research and technology make genetic medicine an increasingly viable solution to previously intractable problems, from rapid diagnosis of rare diseases to understanding the basis of complex human traits.
At the 2025 Genomic Medicine Symposium, the Center for Genomic Medicine at University of Utah Health, partnering with the Center for Personalized Medicine at Primary Children's Hospital, came together to share research strategies, celebrate successes, and build new collaborations to advance genetic medicine.
Early diagnosis
For critically ill infants, every day matters. Arriving at a diagnosis as quickly as possible helps doctors provide the best care and gives parents much-needed information about why their child is sick. Here, rapid whole-genome sequencing and analysis have the potential to accelerate the pipeline to diagnosis and better treatment.
Several of the day's speakers focused on using whole-genome sequencing to find diagnoses for sick kids, presenting hurdles and successes from multiple projects:
- Briana Sawyer, CGC, genetic counselor at the Heart Center Cardiac Genetics Program, a collaboration between U of U Health and Intermountain Health, discussed the utility of a program to provide whole-genome sequencing to infants with isolated congenital heart defects in the cardiac ICU. She emphasized that, given advances in rapid whole-genome sequencing, the technique has similar cost and turnaround time to previously used, more limited genetic analyses, and can provide diagnoses that would otherwise be missed.
- Rachel Palmquist, CGC, assistant professor of pediatrics at U of U Health and genetic counselor at Intermountain Health, discussed the launch of Primary Children's Gene Kids, a project to expand genome sequencing throughout the Mountain West to every child that needs it. Since enrollment started in September 2024, the program has received over 700 referrals.
- Bennet Peterson, PhD,
