A Utah program is helping families search for answers by offering genetic testing that can lead to new diagnoses, treatment options and support.
Gene Kids is a partnership between University of Utah Health and Intermountain Primary Children’s Hospital.
Dr. Kirk Biela, a pediatrician with University of Utah Health and Intermountain Primary Children’s Hospital, said the program is designed to help children who may have genetic conditions that affect their health.
“We know that about 5% to 10% of kids will have a genetic condition that adversely affects their health,” Biela said.
Gene Kids provides whole genome sequencing at little or no cost for children. Biela said more than 1,000 children have already enrolled, and hundreds have received new diagnoses.
“Funding is not a problem. That’s why we want to make sure people are aware of the program, because we do have the funds so more people can access it,” Biela said.
The program is backed by $9 million in private grants and contributions, with the goal of helping as many children and families as possible.
“This access to genetic information changes the way I practice medicine every single day. It helps us better understand many of these conditions, and it helps families understand why certain things are happening with their children, so it helps us all as a team,” Biela said.
For some families, genetic testing can provide answers after years of uncertainty. For others, even a negative result can help doctors rule out certain conditions and guide future care.
“A phrase you often hear in medicine is the ‘diagnostic odyssey.’ A lot of families are in the midst of that, and it’s really stressful not understanding why something is happening,” Biela said.
He said when the program is able to provide a diagnosis, it can also help families connect with others facing similar conditions.
“What we’ve been really excited to offer is that when we can provide a diagnosis, families can find others dealing with the same situation and conditions,” he said. “And really have an ear that understands them.”
Any pediatrician or primary care doctor can recommend a child for the Gene Kids program. Biela said families who participate are not taking resources away from another child because the program has funding available.
The goal is to help doctors better understand each child’s health while advancing care for children more broadly.
Click here to learn more about the Primary Children’s Gene Kids initiative.
