Personalized Medicine

Our Personalized Medicine team produces individualized care for your child, using treatments that focus on genetics, environment, and lifestyle factors.

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Welcome to Intermountain Children's Health Personalized Medicine

Among more than 7,000 known genetic diseases, our Personalized Medicine team offers your child individualized care. With our team of physicians, scientists, genetic counselors, molecular biologists, and in collaboration with the Department of Pediatrics at the University of Utah—our mission is to create specialized treatment options through research, discovery, and therapies.

Our programs and services

Identifying genetic causes allows your child to get the therapy and care they need. Check out some of the programs and services we can offer you.

Precision diagnosis

The Rapid Whole Genome Sequencing (rWGS) Program at Primary Children’s Hospital (PCH) provides rapid and comprehensive genetic testing for hospitalized infants and children. rWGS has been performed for more than 200 patients at PCH since starting in 2019. Watch a video on Rapid Whole-Genome Sequencing.
Pharmacogenomics, launched in 2022, uses specialized genetic testing to identify and optimize medication selections for children with severe heart disease, or requiring anti-coagulation.
Undiagnosed and Reanalysis (UDN) Patients. The UDN Clinic (known as the Penelope Clinic) diagnoses children and adults with rare, unique, previously unexplained diseases. Together with our specialty clinic, we re-evaluate those who remain undiagnosed, discovering answers for you, your child, and family.

Precision therapeutics

We are happy to offer new technologies in treating rare diseases, enabling children with previously fatal genetic diseases to survive and thrive. Given the exciting advances in this area, we collaborate with local and national researchers for ongoing evaluation of therapies for children with rare diseases. Intermountain Children's Health currently offers the following precision therapies:

Zolgensma
Spinraza
Kymirah
Elevidys
Skysona
Casgevy
Lyfgenia

Clinical trials and treatments are in progress for Duchenne's Muscular Dystrophy and Adrenoleukodystrophy. We are also working to develop new gene therapies for Zellweger Spectrum Disorder, and other serious diseases.

Development is underway for novel therapeutics that target specific diseases and improve health, including for Vanishing White Matter Disease, Adrenoleukodystrophy, Congenital Disorders of Glycosylation, and other severe conditions.

Clinical trials are testing the use of stem cells in repairing diseased hearts and other tissues. Research is aimed at developing immunotherapy as a tool to fight pediatric brain tumors.

Precision-driven health equity

Health equity is a priority in pediatrics at Intermountain Children's Health. We aim to ensure our efforts help every child, regardless of socioeconomic status, race, ethnicity, and geographical location.

Our goal is to improve the representation of racial and ethnic groups in our research studies, so we can reflect the diversity of all populations in the area we serve. We also aim to create connections with local communities to learn more about their healthcare needs and how we can provide more diverse care.

Let's make sure that healthcare reflects you and your family.

Fellowship in genomic medicine and genetic therapies

Our center for personalized medicine is dedicated to training the next generation of physicians and scientists. For more information, or to apply to the position, email:

David Viskochil at D avid.viskochil@hsc.utah.edu and Josh Bonkowsky at Joshua.bonkowsky@hsc.utah.edu.

Fellowship details