Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Institute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, ON M5T 3M6, Canada; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, ON M5B 1T8, Canada.
Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Department of Pediatrics, University of Louisville, Louisville, KY 40202, USA.
Am J Hum Genet. 2019 Apr 4;104(4):578-595. doi: 10.1016/j.ajhg.2019.02.025.
The evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence is that a variant's clinical significance might be reinterpreted over time as new evidence emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, and financial issues as to whether there is a responsibility to recontact research participants to provide updates on reinterpretations of variants after the initial analysis. There has been discussion concerning the extent of this obligation in the context of both research and clinical care. Although clinical recommendations have begun to emerge, guidance is lacking on the responsibilities of researchers to inform participants of reinterpreted results. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in November 2018. The workgroup included representatives from the National Society of Genetic Counselors, the Canadian College of Medical Genetics, and the Canadian Association of Genetic Counsellors. The final statement includes twelve position statements that were endorsed or supported by the following organizations: Genetic Alliance, European Society of Human Genetics, Canadian Association of Genetic Counsellors, American Association of Anthropological Genetics, Executive Committee of the American Association of Physical Anthropologists, Canadian College of Medical Genetics, Human Genetics Society of Australasia, and National Society of Genetic Counselors.
支持遗传和基因组序列变异解释的证据基础在不断发展。其内在结果是，随着关于其致病性或缺乏致病性的新证据的出现，变体的临床意义可能会随着时间的推移而重新解释。这就引发了关于是否有责任在初始分析后重新联系研究参与者，提供有关变体重新解释的更新的伦理、法律和财务问题。人们一直在讨论在研究和临床护理这两个方面，这种义务的范围有多大。尽管已经开始出现临床建议，但缺乏研究人员告知参与者重新解释结果的责任的指导。为了应对这一问题，美国人类遗传学会 (ASHG) 工作组制定了这份立场声明，并于 2018 年 11 月获得 ASHG 董事会的批准。工作组的代表来自国家遗传咨询师协会、加拿大医学遗传学学院和加拿大遗传咨询师协会。最终的声明包括十二项立场声明，得到了以下组织的认可或支持：遗传联盟、欧洲人类遗传学学会、加拿大遗传咨询师协会、美国人类遗传学会、美国体质人类学家执行委员会、加拿大医学遗传学学院、澳大利亚人类遗传学学会和国家遗传咨询师协会。
