The HerediGene: Children’s Study recently reached a milestone of 1,000 enrollments at Primary Children’s Hospital. Launched in December 2020, the HerediGene: Children’s Study aims to collect 50,000 DNA samples of children, newborn to 18 years old. The study has been consistent in growth each month, with the operations team working hard to find ways to build the program and share information about the study with patients, Intermountain leaders, and other caregivers.
The 1,000 enrolled in the study includes both pediatric patients and parents who participated with their children. The adult samples will ultimately contribute to the 500,000 in the HerediGene: Population Study (focusing on adult populations). However, having one parent or both parents participate with their children provides even more genetic information to help researchers at the Primary Children’s Center for Personalized Medicine and Intermountain Precision Genomics to better understand genetic diseases in children.
“Pediatric medicine in the 21st century will be defined by diagnosing and curing genetic diseases,” says Andy Gunn, program manager for Primary Children’s Hospital Center for Personalized Medicine. “The first true therapies for genetic diseases are now available. These treatments don’t simply lessen or mitigate symptoms, but instead stop disease, and in some cases cure the disease. With the HerediGene: Children’s Study, we have the opportunity to transform healthcare via new gene discoveries, reducing the risk for late-onset conditions, determining which medicines work best for which patients, using rare gene discovery to inform common disease treatment, and understanding the genetic determinants of response to infections.”
The opportunity for children to participate in HerediGene recently expanded to include several collection methods:
- If a doctor has requested blood lab work for the patient, the child can participate by giving a small amount of additional blood (up to approximately 2.5 teaspoons).
- If a child isn’t having lab work done, they can participate by giving a small amount of blood (up to approximately 2.5 teaspoons) or with a simple cheek swab. (This option is only available for those who are under 18 years).
- If a child has recently had lab work done (less than 14 days before), any remaining blood from tests may be used toward the study.
For more information on the HerediGene: Children’s Study, visit HerediGene.org/Children, email contact@HerediGene.org, or call 833-698-1727.