Children’s Mercy KC says its genomics system allows it to identify rare diseases like never before

Becker's Healthcare September 19, 2022
Giles Bruce

Children’s Mercy Kansas City (Mo.) says it has pioneered the world’s most advanced genomic sequencing system, giving it the potential to diagnose a variety of rare pediatric diseases. The collaboration also includes Hassenfeld Children’s Hospital at NYU Langone Health in New York City.

With 5-base genomic sequencing, researchers at the Children’s Mercy Kansas City Research Institute say they can now sequence and extract the function from the full genome and methylome to identify disease variations never before done in a single test.

“The technology allows us to see into part of the human genome that has never been clinically tested and interpret changes beyond genetic code,” said Tomi Pastinen, MD, PhD, director of the Genomic Medicine Center at Children’s Mercy...

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