Rewiring the Rare Disease Diagnostic Odyssey

Families seeking a diagnosis for a rare disease often face a protracted diagnostic odyssey that can include ER visits, specialist referrals, and dead ends, even at world-class medical centers. Parents bounce from doctor to doctor while payers absorb mounting costs, and the pivotal moment of putting a name to a disease—which can reduce unnecessary care and emotional distress—arrives late, if at all. Sunstone Health is seeking to industrialize the path to answers by using AI to scan claims data for patterns that flag likely genetic disease, recruiting high-risk families, and fast-tracking whole-genome sequencing through a top clinical lab. Sunstone Health founder Joshua Resnikoff discusses how his son’s rare disease diagnostic odyssey gave rise to the company, how Sunstone is working to transform the path to a diagnosis, and its business model of relying on the savings it delivers to self-funded employers.