• When Genomic Reanalysis Leaves the Laboratory - Clinical Genetics in the Age of Consumer AI

     Samuel G. Finlayson, M.D., Ph.D., and Heidi L. Rehm, Ph.D. 

    Abstract

    Reanalysis of previously unsolved genomic data is a recommended component of rare disease care and resolves a meaningful share of initially unsolved cases, but its high cost and uneven implementation mean that many eligible patients do not receive it. In this issue of NEJM AI, Jaech et al. performed reanalysis of unsolved cases using a general-purpose consumer AI platform and reached a new diagnosis in approximately 4.8% of cases despite minimal expert input. This poses central questions about the future of clinical genetics in an era of widely available consumer AI. We argue that, given converging legal access rights, increasingly capable consumer AI, and the urgency of undiagnosed disease, the expansion of patient-led genetic reanalysis seems inevitable irrespective of professional endorsement. We outline norms for safeguarding privacy, enabling voluntary data contribution, and accrediting the interpretive step, so that patient- and AI-derived findings can enter the clinical record through a recognized pathway.