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

MedCity News June 9, 2021
Elise Reuter

Children’s hospitals are launching big efforts to identify more rare diseases through genome sequencing. Even as new treatments become available, many families struggle to reach 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...

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