Are we prepared to deliver gene-targeted therapies for rare diseases?
Timothy W YuStephen F KingsmoreRobert C GreenTippi MacKenzieMelissa WassersteinMichele CagganaNina B GoldAnnie KennedyPriya S KishnaniMatthew MightPhillip J BrooksJill A MorrisMelissa A ParisiTiina K UrvPublished in: American journal of medical genetics. Part C, Seminars in medical genetics (2023)
The cost and time needed to conduct whole-genome sequencing (WGS) have decreased significantly in the last 20 years. At the same time, the number of conditions with a known molecular basis has steadily increased, as has the number of investigational new drug applications for novel gene-based therapeutics. The prospect of precision gene-targeted therapy for all seems in reach… or is it? Here we consider practical and strategic considerations that need to be addressed to establish a foundation for the early, effective, and equitable delivery of these treatments.