Centre of Genomics and Policy, McGill University, 740 avenue Dr. Penfield, suite 5200, Montréal, QC, H3A 0G1, Canada.
Eur J Hum Genet. 2019 Apr;27(4):535-546. doi: 10.1038/s41431-018-0311-3. Epub 2019 Jan 8.
Efforts are underway to harmonise the return of individual results and incidental findings from whole genome sequencing (WGS) across research contexts and countries. We reviewed international, regional and national laws and policies applying to return across 20 countries to identify areas of convergence and divergence. Discrepancies between laws and policies are most problematic where they cannot be reconciled through harmonisation of project-level governance. Rules for the return of results apply at different levels in different jurisdictions (e.g., human subjects research, biobanks, clinical trials, genomic sequencing, and genetic/personal data), complicating comparison. A particular concern for harmonisation are the (often contradictory) rules about when results must, should, may, or must not be returned. Adding confusion are different thresholds for utility (medical, familial, reproductive, and/or personal). The importance of respecting individual choices to know or not know is widely recognised, though some norms emphasise respect for personal preferences. Another troubling observation is that requirements for data quality, variant assessment, and the effective communication of results are evolving in uneven ways. There is a growing gap between researchers with the expertise, infrastructure, and resources to meet these requirements and those without, threatening international collaboration. Best practices for the return of individual genomic results are sorely needed to inform not only the ethical return of results, but also future legislative and policy efforts.
正在努力协调从全基因组测序(WGS)研究中返回个体结果和偶然发现的情况,使其在不同国家和研究背景下保持一致。我们回顾了适用于 20 个国家的国际、地区和国家法律和政策,以确定趋同和分歧的领域。如果无法通过协调项目层面的治理来解决法律和政策之间的差异,那么差异就会成为最大的问题。在不同司法管辖区,结果返还规则适用于不同的层次(例如,人体研究、生物库、临床试验、基因组测序和遗传/个人数据),这使得比较变得复杂。协调的一个特别关注点是关于何时必须、应该、可以或不得返还结果的(通常相互矛盾的)规则。增加混乱的是不同的效用阈值(医学、家族、生殖和/或个人)。尽管一些规范强调尊重个人偏好,但广泛认识到尊重个人选择了解或不了解的重要性。另一个令人不安的观察结果是,数据质量、变体评估和有效传达结果的要求正在以不平衡的方式演变。那些具有满足这些要求的专业知识、基础设施和资源的研究人员与那些没有这些条件的人员之间的差距越来越大,这威胁着国际合作。迫切需要关于个人基因组结果返还的最佳实践,不仅为结果的伦理返还提供信息,还为未来的立法和政策努力提供信息。