Martyn Melissa, Kanga-Parabia Anaita, Lynch Elly, James Paul A, Macciocca Ivan, Trainer Alison H, Halliday Jane, Keogh Louise, Wale Janney, Winship Ingrid, Bogwitz Michael, Valente Giulia, Walsh Maie, Downie Lilian, Amor David, Wallis Mathew, Cunningham Fiona, Burgess Matthew, Brown Natasha J, Jarmolowicz Anna, Lunke Sebastian, Goranitis Ilias, Gaff Clara L
Melbourne Genomics Health Alliance, Melbourne, Australia.
University of Melbourne, Melbourne, Australia.
J Genet Couns. 2019 Apr;28(2):388-397. doi: 10.1002/jgc4.1102. Epub 2019 Feb 18.
Internationally, the practice of offering additional findings (AFs) when undertaking a clinically indicated genomic test differs. In the USA, the recommendation is to include analysis for AFs alongside diagnostic analysis, unless a patient opts-out, whereas European and Canadian guidelines recommend opt-in models. These guidelines all consider the offer of AFs as an activity concurrent with the offer of diagnostic testing. This paper describes a novel two-step model for managing AFs within the healthcare system in Victoria, Australia and presents the study protocol for its evaluation. Adults who have received results of diagnostic whole exome sequencing undertaken within the healthcare system are invited to attend a genetic counseling appointment to consider reanalysis of their stored genomic data for AFs. The evaluation protocol addresses uptake, decision-making, understanding, counseling challenges, and explores preferences for future models of care. Recruitment commenced in November 2017 and will cease when 200 participants have been approached. When the study is concluded, the evaluation results will contribute to the evidence base guiding approaches to counseling and models of care for AFs.
在国际上，进行临床指征性基因组检测时提供额外发现（AFs）的做法存在差异。在美国，建议在诊断分析的同时进行AFs分析，除非患者选择退出，而欧洲和加拿大的指南则推荐选择加入模式。这些指南都将AFs的提供视为与诊断检测的提供同时进行的活动。本文描述了一种在澳大利亚维多利亚州医疗系统中管理AFs的新颖的两步模型，并介绍了其评估的研究方案。已在医疗系统中接受诊断性全外显子测序结果的成年人被邀请参加遗传咨询预约，以考虑对其存储的基因组数据进行AFs重新分析。评估方案涉及接受情况、决策、理解、咨询挑战，并探索对未来护理模式的偏好。招募工作于2017年11月开始，当接触到200名参与者时将停止。研究结束后，评估结果将为指导AFs咨询方法和护理模式的证据基础做出贡献。
