Center for Personalized Medicine
Programs and Areas of Focus
The mission of Primary Children’s Center for Personalized Medicine is to transform this critical need for treatments through research, discovery, and innovative therapies.
Our current programs include:
Precision Diagnosis Programs
For children with a genetic health condition, identifying the underlying genetic cause allows children to receive personalized, targeted therapies. Getting a diagnosis and treatment quickly can greatly improve a child's prospects for leading a healthier life.
Clinical Precision Diagnosis Programs
- The Rapid Whole Genome Sequencing (rWGS) Program at Primary Children’s provides rapid and comprehensive genetic testing for hospitalized infants and children, in order to quickly identify genetic causes for children with acute health care needs. rWGS has been performed for more than 200 patients at PCH since starting in 2019. Click here to watch a video on Rapid Whole-Genome Sequencing
- Pharmacogenomics, launched in 2022, uses specialized genetic testing to identify optimized medication selections for patients with severe heart disease, or requiring anti-coagulation.
- Each year, Primary Children’s cares for 1500 children who are struck by new seizures. Unfortunately, currently, 500 of those children will develop severe, life-long, intractable epilepsy with no curative treatments. Genetic testing provides information on optimal treatment choices, and the potential for curative medication choice. Every patient with childhood onset epilepsy is offered genetic testing, which identifies medicine(s) for treatment and whether surgery is an option.
- Undiagnosed and Reanalysis Patients. The UDN Clinic (known as the Penelope clinic) diagnoses children and adults with rare, unique, previously unexplained diseases. Together with a specialty clinic to re-evaluate patients who remain undiagnosed, these clinics serve to discover answers for patients and families.
Precision Therapeutics
New technologies in treating rare diseases are enabling children with previously debilitating and fatal genetic diseases to survive and thrive. Given the exciting advances in this area, The Center for Personalized Medicine collaborates with local and national researchers and specialists for ongoing evaluation of the availability of therapies for children with rare disease.
Primary Children's currently offers the following precision therapies:
- Zolgensma
- Spinraza
- Kymirah
- Elevidys
- Skysona
- Casgevy
- Lyfgenia
Current Gene Therapy and Novel Therapeutics Programs
- Clinical trials are testing gene therapy treatments for Duchenne's Muscular Dystrophy, Adrenoleukodystrophy, and are developing a new gene therapy 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 pressing concern for health care in pediatrics. Major disparities arise from a child's socioeconomic status, race, ethnicity, and geography. Our goal is to ensure that the CPM's efforts help every child.
We aim to bridge the gap in equity in personalized medicine research and clinical care and promote inclusivity in all aspects of our work.
- Our goal is to improve the representation of different racial and ethnic groups in our research studies and clinical programs, so that we can reflect the diversity of all populations in the area we cover. This will help us to learn how personalized medicine can be adapted to suit the specific needs of various patient groups.
- We aim to create connections with different local and regional communities to learn more about their healthcare needs and how we can provide more diverse care.
Universe of Expertise
- Exceptional, quality physicians and staff
- Proprietary databases
- Unparalleled facilities
- Perpetual resource-generation and expertise-building
- Robust infrastructure for researchers to tap into
- Sequencing and population databases that produce the most advanced outcomes
- Teaching genetic counselors, to support the diagnostic testing.
- Conference of pediatric personalized medicine with lectures for the public and clinicians.
- Community education, with translation services.
Fellowship in Genomic Medicine and Genetic Therapies
The Center for Personalized Medicine is dedicated to training the next generation of physician- scientists and is offering a two-year fellowship in pediatric genomic medicine and gene therapy. Training occurs at the University of Utah and Primary Children's Hospital, located in Salt Lake City, Utah.
For more information: Fellowship in Pediatric Genomic Medicine and Gene Therapy | Pediatrics | U of U School of Medicine
Our Job is Never Done
Leading-Edge Care for Kids
Program Directors
Medical Director
joshua.bonkowsky@hsc.utah.edu
Seth Andrews
Administrative Director
seth.andrews@imail.org
Rachel Palmquist, CGC
Director, Precision Diagnostic Sciences
Rachel.palmquist@hsc.utah.edu
Sabrina Malone-Jenkins, MD
Director, Rapid Genomics
Sabrina.malonejenkins@hsc.utah.edu