Aggregating genome sequencing and electronic health record data to accelerate rare disease drug development and market uptake

Abstract

In the last 20 years, the cost and turnaround time for whole genome sequencing (WGS) has decreased dramatically, while the number of genetic diseases of known molecular basis has steadily increased, as has the number of investigational new drug applications for gene-targeted therapeutics (GTT). GTTs have the potential to transform outcomes in genetic disorders by directly targeting the causative molecular defect. The United States Congress and Food and Drug Administration (FDA) have implemented policies that are accelerating GTT development through the Orphan Drug Act and recent guidelines for GTTs, real-world evidence, and surrogate endpoints.