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™) and for inherited diseases (LUXTURNA™), the first multiplex NGS panel for companion diagnostics (MSK-IMPACT™) and the first drug targeting a genetic signature rather than a disease (Keytruda^®). 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.

下一代测序（NGS）可以对人类基因型与表型之间的关系进行高通量分析，从而开创了遗传学信息药物开发的新时代。2017年是非同寻常的一年，FDA批准了首个针对癌症（Kymriah™）和遗传性疾病（LUXTURNA™）的基因疗法，首个用于伴侣诊断的多重NGS专家组（MSK-IMPACT™）和首个针对遗传基因的药物签名，而不是一种疾病（Keytruda ^®）。我们设想，具有配对电子健康记录（EHR）的人群规模NGS将成为药物开发过程中用于识别新药物靶标的常规措施，并且遗传分层的临床试验将被广泛采用，以提高精准医疗的能力指导的药物开发。