Department of Health, Ethics and Society, CAPHRI Care and Public Health Research Institute, and Research School GROW for Oncology & Developmental Biology, Maastricht University, Maastricht, The Netherlands.
Institute of Medical Genetics, Division of Cancer & Genetics, School of Medicine, Cardiff University, Cardiff, UK.
Eur J Hum Genet. 2021 Mar;29(3):365-377. doi: 10.1038/s41431-020-00758-w. Epub 2020 Nov 22.
If genome sequencing is performed in health care, in theory the opportunity arises to take a further look at the data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) in 2013 recommended that genome analysis should be restricted to the original health problem at least for the time being. Other organizations have argued that 'actionable' genetic variants should or could be reported (including American College of Medical Genetics and Genomics, French Society of Predictive and Personalized Medicine, Genomics England). They argue that the opportunity should be used to routinely and systematically look for secondary findings-so-called opportunistic screening. From a normative perspective, the distinguishing characteristic of screening is not so much its context (whether public health or health care), but the lack of an indication for having this specific test or investigation in those to whom screening is offered. Screening entails a more precarious benefits-to-risks balance. The ESHG continues to recommend a cautious approach to opportunistic screening. Proportionality and autonomy must be guaranteed, and in collectively funded health-care systems the potential benefits must be balanced against health care expenditures. With regard to genome sequencing in pediatrics, ESHG argues that it is premature to look for later-onset conditions in children. Counseling should be offered and informed consent is and should be a central ethical norm. Depending on developing evidence on penetrance, actionability, and available resources, OGS pilots may be justified to generate data for a future, informed, comparative analysis of OGS and its main alternatives, such as cascade testing.
如果在医疗保健中进行基因组测序，那么就有机会进一步查看数据：机会性基因组筛查（OGS）。欧洲人类遗传学学会（ESHG）在 2013 年建议，至少在目前，基因组分析应仅限于原始的健康问题。其他组织则认为应该或可以报告“可操作的”遗传变异（包括美国医学遗传学与基因组学学院、法国预测与个性化医学学会、英国基因组学）。他们认为，应该利用这一机会，有规律、系统地寻找次要发现——所谓的机会性筛查。从规范的角度来看，筛查的特点不在于其背景（公共卫生还是医疗保健），而在于向其提供筛查的人群没有进行特定测试或调查的指征。筛查带来了更不稳定的收益-风险平衡。ESHG 继续建议对机会性筛查采取谨慎的方法。必须保证相称性和自主性，并且在集体资助的医疗保健系统中，必须权衡潜在收益与医疗保健支出。关于儿科的基因组测序，ESHG 认为，在儿童中寻找迟发性疾病还为时过早。应该提供咨询，并同意知情是且应该成为一个核心伦理规范。根据外显率、可操作性和可用资源方面的不断发展的证据，OGS 试验可能有理由生成数据，以便对 OGS 及其主要替代方案（如级联测试）进行未来的知情、比较分析。
