Zawati Ma'n H, Parry David, Thorogood Adrian, Nguyen Minh Thu, Boycott Kym M, Rosenblatt David, Knoppers Bartha Maria
Centre of Genomics and Policy, McGill University, Montreal, Quebec, Canada.
J Med Genet. 2014 Jan;51(1):68-70. doi: 10.1136/jmedgenet-2013-101934. Epub 2013 Sep 27.
This article proposes recommendations for the use of whole-genome and whole-exome (WGS/WES) sequencing in clinical practice, endorsed by the board of directors of the Canadian College of Medical Geneticists. The publication of statements and recommendations by several international and national organisations on clinical WGS/WES has prompted a need for Canadian-specific guidance.
A multi-disciplinary group consisting of lawyers, ethicists, genetic researchers, and clinical geneticists was assembled to review existing guidelines on WGS/WES and identify provisions relevant to the Canadian context.
Definitions were provided to orient the recommendations and to minimize confusion with other recommendations. Recommendations include the following: WGS/WES should be used in a judicious and cost-efficient manner; WGS/WES should be used to answer a clinical question; and physicians need to explain to adult patients the nature of the results that could arise, so as to allow them to make informed choices over whether to take the test and which results they wish to receive. Recommendations are also provided for WGS/WES in the pediatric context, and for when results implicate patients' family members.
These recommendations are only a proposal to be developed into comprehensive Canadian-based guidelines. They aim to promote discussion about the reporting of WGS/WES results, and to encourage the ethical implementation of these new technologies in the clinical setting.
本文提出了在临床实践中使用全基因组和全外显子组（WGS/WES）测序的建议，这些建议得到了加拿大医学遗传学家学院董事会的认可。多个国际和国家组织发布了关于临床WGS/WES的声明和建议，这促使人们需要加拿大特有的指导意见。
组建了一个由律师、伦理学家、基因研究人员和临床遗传学家组成的多学科小组，以审查关于WGS/WES的现有指南，并确定与加拿大情况相关的条款。
给出了定义，以指导建议的制定，并尽量减少与其他建议的混淆。建议包括以下内容：应以明智且符合成本效益的方式使用WGS/WES；WGS/WES应用于回答临床问题；医生需要向成年患者解释可能产生的结果的性质，以便他们就是否进行检测以及希望获得哪些结果做出明智的选择。还针对儿科情况下的WGS/WES以及结果涉及患者家庭成员的情况提供了建议。
这些建议只是一项提议，有待发展成为全面的基于加拿大的指南。它们旨在促进关于WGS/WES结果报告的讨论，并鼓励在临床环境中以符合伦理的方式实施这些新技术。
