How New Sequencing Technology Promises to Alter the Diagnostic Odyssey

Just three years after Children’s Mercy Research Institute launched its Genomic Answers for Kids program, it reported that it had hit the milestone of providing 1,000 rare disease diagnoses to families. One reason for the success of the GA4K program has been the use of advanced genomic sequencing that captures the full genome and methylome to reveal part of the human genome that has never been clinically tested to interpret changes beyond the genetic code. We spoke to Tomi Pastinen, director of the Genomic Medicine Center at Children’s Mercy Kansas City, about the GA4K program, how new sequencing technology is allowing it to diagnose rare disease patients who previously were undiagnosable, and how it has the potential to alter the diagnostic odyssey for patients with rare, genetic diseases.