A nine-million-dollar infusion to the Intermountain Primary Children’s Center for Personalized Medicine will broaden access to genomic sequencing for infants and children with genetic conditions.
Doctor Josh Bonkowsky, a pediatric neurologist at Intermountain Primary Children’s Hospital, said this initiative will help improve their already cutting-edge genetic testing program.
“The fact that we were doing two to three cases of this genome sequencing a week was already a little bit mind-boggling to people from other children's hospitals, and now we're talking about doing like, you know, 30 or 50 cases a week,” Bonkowsky said.
Seven-year-old Scarlett Hill is a long-time patient of Dr. Bonkowsky who was diagnosed with a genetic disease after receiving genome sequencing. Scarlett’s mother, Cassandra Hill, says having a diagnosis helps her family know what to expect in the future.
“When things do come up, and they probably will, there'll be a better care plan or an understanding for the doctors to be able to help Scarlett,” Hill said.
Dr. Bonkowsky said Scarlett’s case is not unique.
“We have a lot of other kids like Scarlett. And so, with this new $9 million, it means we have a whole team of physicians, and geneticists, and cardiologists, and genetic counselors to make this work,” Bonkowsky said.
The goal is to implement genetic testing in children’s healthcare facilities across the Intermountain West. With access to genomic sequencing, children with genetic conditions will be able to receive a diagnosis and find treatment and support sooner.
“It really is a way to kind of change the healthcare and the trajectory of people’s lives in this really large fashion,” Bonkowsky said.
