Newswise \u2014 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.<\/p>\n
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.<\/p>\n
At the 2025 Genomic Medicine Symposium, the Center for Genomic Medicine<\/a> at University of Utah Health, partnering with the Center for Personalized Medicine<\/a> at Primary Children\u2019s Hospital, came together to share research strategies, celebrate successes, and build new collaborations to advance genetic medicine.<\/p>\n Early diagnosis<\/p>\n 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.\u00a0<\/p>\n Several of the day\u2019s speakers focused on using whole-genome sequencing to find diagnoses for sick kids, presenting hurdles and successes from multiple projects:<\/p>\n Briana Sawyer, CGC,<\/a> 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,<\/a> assistant professor of pediatrics at U of U Health and genetic counselor at Intermountain Health, discussed the launch of Primary Children\u2019s Gene Kids<\/a>, 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,<\/a> postdoctoral researcher in human genetics at U of U Health, focused on how to quickly identify newborn patients who are most likely to benefit from whole-genome sequencing so that patients in need don\u2019t fall through the cracks. The program he\u2019s developed analyzes clinic notes to help rapidly determine whether an infant is likely to benefit from whole-genome screening, helping patients get tested faster while relieving the burden on providers.Genetics of behavior<\/p>\n Other researchers focused on the genetic basis of psychological conditions that remain difficult to predict or treat. Even complex behaviors can be influenced by genetics, and untangling their biological underpinnings could help lead to better prevention and treatment.<\/p>\n Adrian Rothenfluh, PhD,<\/a> associate professor of psychiatry at the U, presented his lab\u2019s research using fruit flies to study a startlingly human phenomenon: addiction. Flies and humans share many genes that have been implicated in substance abuse. Like humans, flies can become addicted to substances including alcohol, eventually leading to tolerance and dependence. Rothenfluh is using flies\u2019 rapid lifespan to uncover addiction biology faster.Hilary Coon, PhD,<\/a> professor of psychiatry at Huntsman Mental Health Institute at the University of Utah, discussed how she\u2019s integrating information from health records and DNA samples to investigate risk factors of dying by suicide. No single condition puts a person at high risk. For those with a history of suicidal behavior (about half of suicide deaths), neuropsychiatric conditions are strong risk factors. For those without a history of suicidal behavior, Coon has found that some of the strongest risk factors are related to physical health conditions such as inflammation and chronic pain.Personalized medicine<\/p>\n Other researchers focused on using genetics to guide personalized medicine for diseases that emerge after infancy.\u00a0<\/p>\n Sam Cheshier, MD, PhD,<\/a> associate professor of neurosurgery at the U, investigator at Huntsman Cancer Institute at the University of Utah, and pediatric neurosurgeon at Primary Children\u2019s Hospital, is analyzing pediatric brain tumors at a single-cell level. By determining tumors\u2019 unique genetic weak points and exposing tumor cells to a panel of cancer drugs, he aims to identify which anticancer drugs might be most effective for each patient. The next step is to incorporate AI into the drug selection process and ramp up analysis at scale.Bradley Hunter, MD,<\/a> director of immune effector cell therapy and interim medical director of oncology research at Intermountain Health, described early results from a program to treat autoimmune disease via CAR-T therapy: essentially, harnessing one part of the immune system to treat another. He says that the therapy has shown \u201creally impressive\u201d results for lupus and other autoimmune diseases, both in the short- and long-term.<\/p>\n