Scarlet Hill poses for a picture with her family.
By Brooke Heath
The HerediGene: Children’s Study recently reached a milestone of 2,500 enrollments. The increase in children participating in this pioneering study gives researchers more information to understand the causes of genetic diseases and discover treatments to help children thrive.
Launched in late 2020, the HerediGene: Children’s Study aims to collect 50,000 DNA samples of children, newborn to 18 years old, to help them access future treatments and possible cures for genetic disorders based on their unique DNA.
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, leaders, and caregivers.
“These accomplishments in enrollment are made possible by highly qualified researchers and support partners dedicated to our youngest patients,” says Travis Sheffield, the Applied Genomics director. “I’ve witnessed the zeal and compassion in their eyes as they work to provide this opportunity to every family who presents in participating recruitment centers. ‘Pediatrics is my heart and home’ is a common phrase shared among this team.”
Enrollment in the study has grown over the last 18 months. New ways have been developed for children to participate in the study at Primary Children’s Hospital’s outpatient lab, emergency room, clinics, and inpatient units—as well as St. George Regional Hospital and Utah Valley Hospital’s Labor and Delivery departments, NICU, and well-baby nurseries.
“As this is a lofty endeavor, the Children’s Study began recruiting study participants within the walls of Primary Children’s Hospital in Salt Lake City,” Travis says. “We’re happy to share that we’ve expanded to other facilities including the NICU departments at Utah Valley Hospital and St. George Regional Hospital.”
The 2,500 enrolled in the study includes both pediatric patients and parents who participated with their children. All samples contribute to the 500,000 in the HerediGene: Population Study that focuses on adult populations. However, parent and family participation in the children’s cohort adds additional genetic information to help researchers at the Intermountain Primary Children’s Center for Personalized Medicine and Intermountain Precision Genomics understand genetic diseases specifically in children, including five-year-old Scarlet.
Scarlet has an undiagnosed genetic disorder that causes developmental delays and seizures. But that doesn’t stop her. Scarlet’s mother, Cassandra Hill says with the help of experts at Primary Children’s Hospital, Scarlet is making great strides in her development, including learning to walk and talk.
Cassandra says Scarlet is participating in the study to help children like her access treatments in the future.
“We hope Scarlet’s participation in the study will be able to help other children, and help researchers determine whether she’s likely to suffer from other medical conditions due to her genetic disorder,” Cassandra says. “Knowledge is power.”
Children don’t have to be patients to participate in the study, and no appointment is necessary. Families are welcome to come to the Eccles Outpatient Lab at Primary Children’s Hospital where children can provide DNA samples in one of three ways:
- If a doctor has requested blood lab work, the child can participate by giving a small amount of additional blood.
- If a child isn’t having lab work done, they can participate with a simple cheek swab or by giving a small amount of blood.
- If a child has had blood drawn within the past 14 days, any remaining blood from tests may be used toward the study.
For more information on Intermountain’ s HerediGene: Children’s study, please visit HerediGene.org/Children, email Contact@HerediGene.org, or call 833-698-1727.