Personalized Medicine

Primary Children’s Gene Kids is open to all children who have a suspected genetic disorder. Most children enrolled in Gene Kids have had or will be offered clinical genetic testing through their healthcare provider. Based on a child’s symptoms, some children may be offered broad genetic testing called whole genome sequencing, whereas other children may be offered targeted genetic testing. Many families have limited access to genetic testing, especially whole genome sequencing.

Gene Kids goal is to provide improved access to whole genome sequencing and to evaluate the impact that access to whole genome sequencing has on children’s health, at the time of testing and over their lifetime. For children enrolled in Gene Kids, the cost of whole genome sequencing will be covered when it cannot be accessed through usual clinical pathways. The program aims to create improved access to this testing for patients and communities across the region, as well as for families and individuals experiencing socioeconomic stressors.

Referral to Gene Kids can be made by any healthcare provider. If you think your child may benefit from Gene Kids, please contact your healthcare provider to discuss eligibility. If your child is not currently a patient at Primary Children’s please contact (or have your physician contact) PCHGeneKids@hsc.utah.edu for further information.

The primary benefit of Gene Kids is the potential to identify a genetic diagnosis for your child. Identifying a genetic diagnosis can lead to improved health outcomes and a better quality of life for children with genetic conditions.

Not all children who receive whole genome sequencing testing will have a genetic diagnosis identified at the time of testing. We will use your and your child’s data collected as part of Gene Kids to study how to better diagnose and treat children with genetic conditions.

You and your child will meet with a study team member to discuss the study and any benefits, limitations and risks. A blood or saliva sample will be collected for children receiving whole genome sequencing through the study. Testing is performed at sites across the region, including Primary Children’s Hospital.

Gene Kids will collect and store health and family history together with genetic test results and genomic data for the purpose of future research. Maintaining patient’s privacy and confidentiality are of the highest importance to the Gene Kids Program and a study team member will review in detail how your personal data will be used and protected.

We will store your child’s genomic data over their lifetime, and you may request access to this information at any time. We may contact you over time if we find important new information that may be related to your child’s health.

Primary Children’s Gene Kids is made possible by a $4.5 million grant from The Warren Alpert Foundation and a matching funds from grateful families and individuals who supported Primary Promise (intermountainhealthcare.org). The combined $9 million represents the largest single funding to date for the Primary Children’s Center for Personalized Medicine. The Center for Personalized Medicine leads efforts to transform pediatric medicine, including in advancing genetic testing; and in developing new gene therapies. Gene Kids and the Center for Personalized Medicine are led by Dr. Josh Bonkowsky, a pediatric neurogenetics specialist, and Evy Clark, Senior Manager. If you would like to contribute to Gene Kids or other work in personalized medicine, please contact evy.clark@imail.org.