Next-generation sequencing in drug development: target identification and genetically stratified clinical trials

Next-generation sequencing (NGS) enabled high-throughput analysis of genotype-phenotype relationships on human populations, ushering in a new era of genetics-informed drug development. The year 2017 was remarkable, with the first FDA-approved gene therapy for cancer (Kymriah (TM)) and for inherited diseases (LUXTURNA (TM)), the first multiplex NGS panel for companion diagnostics (MSK-IMPACT (TM)) and the first drug targeting a genetic signature rather than a disease (Keytruda (R)). We envision that population-scale NGS with paired electronic health records (EHRs) will become a routine measure in the drug development process for the identification of novel drug targets, and that genetically stratified clinical trials could be widely adopted to improve power in precision-medicine guided drug development.