23andMe, Inc., Sunnyvale, CA, USA.
J Pathol. 2021 Jul;254(4):418-429. doi: 10.1002/path.5664. Epub 2021 Apr 9.
Human genetics plays an increasingly important role in drug development and population health. Here we review the history of human genetics in the context of accelerating the discovery of therapies, present examples of how human genetics evidence supports successful drug targets, and discuss how polygenic risk scores could be beneficial in various clinical settings. We highlight the value of direct-to-consumer platforms in the era of fast-paced big data biotechnology, and how diverse genetic and health data can benefit society. © 2021 23andMe, Inc. The Journal of Pathology published by John Wiley & Sons, Ltd. on behalf of The Pathological Society of Great Britain and Ireland.
人类遗传学在药物开发和人群健康领域发挥着越来越重要的作用。在此,我们在加速治疗方法发现的背景下综述人类遗传学的历史,举例说明人类遗传学证据如何支持成功的药物靶点,并讨论多基因风险评分在各种临床环境下如何带来益处。我们强调了在大数据生物技术快速发展的时代,直接面向消费者的平台的价值,以及多样化的遗传和健康数据如何使社会受益。