Primary Children’s Gene Kids is a $9 million program to provide a genomic diagnosis to every child with a possible genetic condition. Our goal is to integrate diagnosis, discovery, and treatment to reach children and families who may benefit, regardless of their location or insurance, by ensuring access to whole genome sequencing (WGS). Gene Kids reaches more than 80 clinics and hospitals across the mountain west region, ranging from Nevada to the Canadian border, including in NICUs and with telehealth.
Gene Kids is a program of Primary Children’s Center for Personalized Medicine (CPM). The CPM, now in its 7th year, is a collaboration between Primary Children’s Hospital (Intermountain Children’s Health) and the University of Utah Health Department of Pediatrics.
Gene Kids: Expanding Access to Whole Genome Sequencing
For many families, the path to a diagnosis is not straightforward. Conditions that were once thought to have non-genetic causes are increasingly being reevaluated as genomics advances, highlighting the importance of broad access to WGS.
Gene Kids is designed to meet this need by expanding access to WGS for children with suspected genetic disorders, particularly those who may not otherwise have access due to geographic, financial, or other barriers.
The program centers on three core priorities:
- Clinical whole genome sequencing for children with suspected genetic disorders, regardless of race, ethnicity, location, or financial need;
- Lifelong access to their personal genome, allowing results to support care over time;
- Improved diagnosis and care through innovative computational tools, including genomic data analysis and AI
Gene Kids is open to all children with a suspected genetic disorder, and referral can be made by any healthcare provider, helping ensure broad access across the region. To date, almost 1,800 patients have enrolled in Gene Kids, including 20% from rural communities. Diagnoses have helped premature infants, children with seizures or autism, and for those with diabetes or heart conditions.
Improving Diagnosis and Care
The impact of Gene Kids is best understood through the families it serves and the new possibilities it creates for care.
One genetic counselor recently described a family she worked with through Gene Kids. A child with Duchenne muscular dystrophy (DMD) was enrolled in the program in anticipation of potential gene therapy. During that process, the child’s mother shared that another child had been diagnosed with cerebral palsy (CP), a condition not historically thought to be genetic.
With access to whole genome sequencing through Gene Kids, that child was also tested. The results identified a diagnosis of SORD1, providing an explanation for many of the symptoms the child was experiencing. Just as importantly, SORD1 now has an emerging treatment option.
The impact extended even further. A third sibling was subsequently tested and found to have the same SORD1 variant, allowing treatment to begin before symptoms emerged!
Stories like this highlight a central goal of Gene Kids: to expand access to WGS in ways that not only provide answers, but also change the clinical trajectory for children and families.
When WGS cannot be accessed through usual clinical pathways, the program covers the cost for enrolled children. By removing these barriers, Gene Kids aims to improve access to testing and evaluate its impact on children’s health over time.
Identifying a genetic diagnosis can lead to more informed care, improved health outcomes, and expanded access to services and emerging therapies. Even when a diagnosis is not immediately found, participation contributes to ongoing research efforts to better understand and treat genetic disease.
Center for Personalized Medicine and Gene Kids: A Transformational Investment
The Center for Personalized Medicine (CPM) leads efforts to transform pediatric care, including advancing genetic testing and developing and treating with gene therapies. Gene Kids and the Center are led by Dr. Josh Bonkowsky, a pediatric neurogenetics specialist; Heidi Niedfeldt, Program Administrator; and Evy Clark, Senior Manager.
The CPM launched Gene Kids in 2024, with support from a $4.5 million grant from The Warren Alpert Foundation, matched by contributions from grateful families and donors through Primary Promise. The combined $9 million represents the largest single funding to date for the Primary Children’s Center for Personalized Medicine.
If you would like additional information on Gene Kids or the CPM, please contact the team at PCHGeneKids@hsc.utah.edu.
