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As children’s hospitals build up precision medicine programs, families still face challenges in reaching a diagnosis


Bolstered by new technologies and decreasing sequencing costs, children’s hospitals are building out precision medicine programs with lofty goals. They hope to identify new treatments for rare diseases, and for children whose cancer is not responding.

But for many families, the biggest hurdle is still reaching a diagnosis in the first place, panelists said at MedCity INVEST Precision Medicine.

Even as one panelist described the excitement of finding treatments for diseases that were previously deemed undiagnosable, “unfortunately, that’s not the case for a lot of kids and families that are frustrated with not understanding what’s wrong with the disease,” said Dr. Tomi Pastinen, director of the Genomic Medicine Center at Children’s Mercy Hospital in Kansas City.

Children’s Mercy has built up its Genomic Medicine Center over the last decade, and has pioneered some rapid sequencing technologies, but many families who have children with a suspected rare disease still don’t reach a diagnosis.

Because of this, Children’s Mercy recently launched an initiative to build a pediatric data repository to find answers about rare diseases and search for treatments.

The goal is to collect genomic information from 30,000 children who are suspected to have rare genetic conditions, and their family members.

Other hospitals are launching similar efforts. Intermountain Primary Children’s Hospital in Salt Lake City recently launched a study to collect 50,000 DNA samples from children, as well as any parents or siblings who want to participate.

A critical first step
Reaching a diagnosis is a critical first step for these families. In a small number of cases, an effective treatment has already been identified, said Dr. Josh Bonkowsky, medical director of Intermountain’s Primary Children’s Center for Personalized Medicine.

In one case, a family had been to the hospital 30 times in the first three years of their son’s life, because he kept having seizures. Through genome sequencing, researchers were able to identify his condition as a treatable genetic epilepsy, he said.

Even in cases where a treatment isn’t yet available, understanding what’s happening is still important, and can bring some peace to families.

“Families with these disorders are fighting this unknown entity. They can’t tell their uncle what does their kid have, they can’t be on Facebook groups for the disease, they can’t reach out to understand in five years what is the future going to look like,” he said. “It really changes their landscape of the future.”

Families still face obstacles, both financial and scientific, in reaching a diagnosis. For example, patients in lower-income neighborhoods and rural areas are still underserved in terms of molecular diagnostics, Pastinen said.  Children’s Mercy is looking to address some of these gaps by working more closely with clinics in these communities.

Coverage can also be an obstacle. While insurers are increasingly paying for testing, what gets reimbursed is often not a comprehensive test, but specific panels, he said. Because of this, most genome sequencing efforts are currently covered by philanthropy.

For example, at Nationwide Children’s Hospital in Columbus, Ohio, children with rare cancers are enrolled in a research trial funded by philanthropic sources. This gives them access to tumor sequencing, with the goal of identifying a more effective front-line treatment for their cancer.

Peter White, senior director of the hospital’s Steve & Cindy Rasmussen Institute for Genomic Medicine, hope to be able to demonstrate that these technologies change how patients’ cancer responds to treatment.

“In terms of funding, it’s been largely philanthropic, but there absolutely needs to be that shift, having proven the therapeutic benefits of these approaches,” he said.

Photo credit: iLexx, Getty Images

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