Safety, Costs, and Ethical Issues in Drug Development and Gene Therapy for Rare Diseases

Scientific advances have provided the ability to modify the course of genetic diseases through the use of genetic therapies. These therapies include RNA-based approaches that either reduce the translation of a toxic protein or skip exons to produce a more functional protein. Adeno-associated virus-based delivery of missing gene products has also been demonstrated to modify the overall course of diseases. The science has advanced beyond the ability of our health system infrastructure to keep pace. Challenges with drug pricing, manufacturing, regulatory pathways, and patient access remain. The ability to overcome these challenges will directly influence the ability to deliver these highly promising therapies to patients waiting for them.