Bunnik Eline M, Dondorp Wybo J, Bredenoord Annelien L, de Wert Guido, Cornel Martina C
Erasmus MC, Department of Medical Ethics, Philosophy and History of Medicine, PO Box 2040, 3000, CA, Rotterdam, The Netherlands.
Maastricht University, Dept of Health, Ethics and Society, CAPHRI School for Public Health and Primary Care, PO Box 616, 6200, MD, Maastricht, The Netherlands.
Eur J Cancer. 2021 May;148:405-410. doi: 10.1016/j.ejca.2021.02.029. Epub 2021 Mar 27.
The wider availability of genomic sequencing, notably gene panels, in cancer care allows for personalised medicine or the tailoring of clinical management to the genetic characteristics of tumours. While the primary aim of mainstream genomic sequencing of cancer patients is therapy-focussed, genomic testing may yield three types of results beyond the answer to the clinical question: suspected germline mutations, variants of uncertain significance (VUS), and unsolicited findings pertaining to other conditions. Ideally, patients should be prepared beforehand for the clinical and psychosocial consequences of such findings, for themselves and for their family members, and be given the opportunity to autonomously decide whether or not to receive such unsolicited genomic information. When genomic tests are mainstreamed into cancer care, so should accompanying informed consent practices. This paper outlines what mainstream oncologists may learn from the ethical tradition of informed consent for genomic sequencing, as developed within clinical genetics. It argues that mainstream informed consent practices should focus on preparing patients for three types of unsolicited outcomes, briefly and effectively. Also, it argues that when the chance of unsolicited findings is very low, opt-out options need not be actively offered. The use of a layered approach - integrated in information systems - should render informed consent feasible for non-geneticist clinicians in mainstream settings. (Inter) national guidelines for mainstreaming informed consent for genomic sequencing must be developed.
基因组测序，尤其是基因检测板，在癌症治疗中越来越普及，这使得个性化医疗或根据肿瘤的基因特征定制临床管理成为可能。虽然癌症患者主流基因组测序的主要目的是聚焦治疗，但基因组检测可能会产生三种超出临床问题答案的结果：疑似种系突变、意义未明的变异（VUS）以及与其他疾病相关的意外发现。理想情况下，患者应该提前为这些发现对自己和家人的临床及心理社会影响做好准备，并获得自主决定是否接受此类意外基因组信息的机会。当基因组检测成为癌症治疗的主流时，相应的知情同意做法也应如此。本文概述了主流肿瘤学家可以从临床遗传学中发展起来的基因组测序知情同意伦理传统中学到什么。它认为主流知情同意做法应专注于简要而有效地让患者为三种意外结果做好准备。此外，它认为当意外发现的可能性非常低时，不必主动提供退出选项。采用分层方法——整合到信息系统中——应该使主流环境中的非遗传学家临床医生能够实施知情同意。必须制定（国际）基因组测序知情同意主流化的指南。
