Treating All the Not-So-Rare “Rare Disease” Patients at Major Care Centers

For the first episode of 2025, I spoke with Tomi Pastinen, MD, PhD, Director of the Center for Pediatric Genomic Medicine at Children's Mercy Kansas City (CMKC), one of the best pediatric hospitals in the United States. Dr. Pastinen has pioneered genomics for mass diagnosis and treatment of pediatric patients at large medical centers, a fundamental capability necessary for precision medicine. With Dr. Pastinen at the helm, CMKC became the first pediatric hospital in Missouri to offer in-house pharmacogenetic testing with a test called Kiddose and the first in the country to use a genomic sequencing approach that reads not 4 but 5 different nucleotides in the clinical setting. In addition to discussing the clinical upside of incorporating genomic testing into a pediatric hospital setting, we also discuss some challenges that arise from a genetically characterized diagnosis to actual treatment—such as what happens when a child is diagnosed by identifying a disease-causing variant for which no existing treatment exists—as well as the world beyond well-defined inherited diseases to more complex disorders, including autism.

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Produced by Bill Levine

Hosted by Jonathan D. Grinstein

Music provided by Artem Hramushkin

Audio mixed and mastered by Jason Mack

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