Cutting through the Diagnostic Maze for Rare Diseases

Whole genome sequencing is reshaping the rare disease diagnostic odyssey by replacing years of serial, narrow gene panels and helping patients with suspected rare diseases obtain faster, more definitive answers. Akash Kumar, co‑founder and chief medical officer of MyOme, discusses where genome sequencing now fits into care pathways, how it captures hard‑to‑detect variant types; and what it means for treatment decisions, clinical trial access, and the emotional burden on families searching for a diagnosis.