Moving beyond the diagnostic odyssey: the pathway from genomic diagnosis to patient-customised therapies for rare disease

Rare monogenic diseases are a leading cause of childhood mortality. Despite advances in genome-based diagnostics and the emergence of patient-specific medicines, for many conditions a gap remains between diagnosis and delivering an effective treatment. Here, we present a decision-oriented framework to support progression from genomic diagnosis to development of personalised nucleic-acid therapies, highlighting how integrating existing diagnostic and therapeutic capabilities within a clinical workflow can facilitate timely, safe, and scalable development of individualised therapies.