Hooker Gillian W, Clemens Keelia Rhoads, Quillin John, Vogel Postula Kristen J, Summerour Pia, Nagy Rebecca, Buchanan Adam H
NextGxDx, 810 Crescent Centre Dr, Franklin, TN, 37027, USA.
Duke Cancer Institute, Duke University Medical Center, Durham, NC, USA.
J Genet Couns. 2017 Dec;26(6):1244-1253. doi: 10.1007/s10897-017-0099-2. Epub 2017 Apr 22.
The impacts of the Association for Molecular Pathology vs. Myriad Supreme Court decision regarding patenting DNA segments and multi-gene testing on cancer genetic counseling practice have not been well described. We aimed to assess genetic counselors' perceptions of how their genetic testing-related practices for hereditary breast and/or ovarian cancer (HBOC) changed after these events. One-hundred fifty-two genetic counselors from the National Society of Genetic Counselors Cancer Special Interest Group completed an anonymous, online, mixed-methods survey in November 2013. The survey presented four hypothetical patients and asked about changes in testing practice. Across the vignettes, a majority of participants reported specific changes in testing decisions following Association for Molecular Pathology vs. Myriad and availability of multi-gene testing. Ninety-three percent of participants reported changing the types of first- and second-line tests they order for HBOC; the degree of change varied geographically. Qualitative analysis indicated that some counselors have altered the counseling session content, trading depth of information for breadth and spending more time counseling about uncertainty. This study shows that cancer genetic counselors are adapting quickly to genetic testing changes, but with wide variability. Findings suggest future research to elucidate clinicians' and patients' preferences for guidance on the clinical implementation of next-generation sequencing.
分子病理学协会诉麦利亚德公司案中关于DNA片段专利及癌症多基因检测的最高法院判决对癌症遗传咨询实践的影响尚未得到充分描述。我们旨在评估遗传咨询师对于在这些事件之后其针对遗传性乳腺癌和/或卵巢癌（HBOC）的基因检测相关实践如何变化的看法。2013年11月，来自美国国家遗传咨询师协会癌症特别兴趣小组的152名遗传咨询师完成了一项匿名的在线混合方法调查。该调查展示了四名假设的患者，并询问检测实践的变化。在各个案例中，大多数参与者报告称在分子病理学协会诉麦利亚德公司案及多基因检测可用之后，检测决策有了具体变化。93%的参与者报告改变了他们为HBOC订购的一线和二线检测类型；变化程度因地区而异。定性分析表明，一些咨询师改变了咨询会议内容，以信息广度换取深度，并花费更多时间就不确定性进行咨询。这项研究表明，癌症遗传咨询师正在迅速适应基因检测的变化，但存在很大差异。研究结果表明未来需要开展研究，以阐明临床医生和患者对于下一代测序临床应用指导的偏好。
