Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program.
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program.
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DOI：
10.1186/s13073-022-01031-z
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发表时间：
2022-03-28
期刊：
影响因子：
12.3
通讯作者：
Lennon NJ
中科院分区：
文献类型：
--
作者：
Venner E;Muzny D;Smith JD;Walker K;Neben CL;Lockwood CM;Empey PE;Metcalf GA;Kachulis C;All of Us Research Program Regulatory Working Group;Mian S;Musick A;Rehm HL;Harrison S;Gabriel S;Gibbs RA;Nickerson D;Zhou AY;Doheny K;Ozenberger B;Topper SE;Lennon NJ
我们所有人的研究计划(AoURP，“该计划”)是由美国国立卫生研究院(NIH)发起的一项倡议，旨在在美国各地招募100万人(或更多人)。通过参与者的反复参与，正在创建一种研究资源，以使各种未来的观察性和干预性研究成为可能。该计划还致力于基因组数据的生成，并向参与者返回与健康有关的重要信息。必须创建全基因组测序(WGS)、变量调用过程、数据解释和结果返回程序，并获得美国食品和药物管理局(FDA)的调查设备豁免(IDE)。整个工作流程的绩效是通过已知的最大规模的跨中心、基于WGS的验证活动进行评估的，该活动通过与FDA长达数月的互动反复改进。WGS程序作为返回某些与健康相关的基因组结果的装置的准确性和精密度被确定为足够，并获得了IDE。我们在这里介绍了与FDA一起导航IDE应用程序的过程和验证研究的结果，作为未来可能需要遵循类似路径的项目的指南。将来对程序的更改将包含在向IDE提交的补充文件中，并将支持额外的变体类、样本类型和对可报告区域的任何扩展。网上版载有补充材料，可在10.1186/s13073-022-01031-z查阅。
The All of Us Research Program (AoURP, “the program”) is an initiative, sponsored by the National Institutes of Health (NIH), that aims to enroll one million people (or more) across the USA. Through repeated engagement of participants, a research resource is being created to enable a variety of future observational and interventional studies. The program has also committed to genomic data generation and returning important health-related information to participants. Whole-genome sequencing (WGS), variant calling processes, data interpretation, and return-of-results procedures had to be created and receive an Investigational Device Exemption (IDE) from the United States Food and Drug Administration (FDA). The performance of the entire workflow was assessed through the largest known cross-center, WGS-based, validation activity that was refined iteratively through interactions with the FDA over many months. The accuracy and precision of the WGS process as a device for the return of certain health-related genomic results was determined to be sufficient, and an IDE was granted. We present here both the process of navigating the IDE application process with the FDA and the results of the validation study as a guide to future projects which may need to follow a similar path. Changes to the program in the future will be covered in supplementary submissions to the IDE and will support additional variant classes, sample types, and any expansion to the reportable regions. The online version contains supplementary material available at 10.1186/s13073-022-01031-z.
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影响因子：
4.1
作者：
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