Malone Jenkins Sabrina, Palmquist Rachel, Kapron Ashley L, Torr Carrie, Best D Hunter, Karren Mary Anne, Brunelli Luca, Yandell Mark, Tristani-Firouzi Martin, Dimmock David, Watts Brian, Botkin Jeffrey R, Johnson Ann, Bonkowsky Joshua L
Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
J Clin Transl Sci. 2021 Aug 9;5(1):e177. doi: 10.1017/cts.2021.833. eCollection 2021.
Rapid whole genome sequencing (rapid WGS) is a powerful diagnostic tool that is becoming increasingly practical for widespread clinical use. However, protocols for its use are challenging to implement. A significant obstacle to clinical adoption is that laboratory certification requires an initial research development phase, which is constrained by regulations from returning results. Regulations preventing return of results have ethical implications in cases which might impact patient outcomes. Here, we describe our experience with the development of a rapid WGS research protocol, that balanced the requirements for laboratory-validated test development with the ethical needs of clinically relevant return of results.
快速全基因组测序（rapid WGS）是一种强大的诊断工具，在广泛的临床应用中变得越来越实用。然而，其使用方案的实施具有挑战性。临床应用的一个重大障碍是实验室认证需要一个初始的研究开发阶段，这受到结果反馈相关法规的限制。在可能影响患者治疗结果的情况下，禁止反馈结果的法规具有伦理意义。在这里，我们描述了我们在开发快速WGS研究方案方面的经验，该方案平衡了实验室验证测试开发的要求与临床相关结果反馈的伦理需求。
