Scherr Courtney L, Lindor Noralane M, Malo Teri L, Couch Fergus J, Vadaparampil Susan T
Health Outcomes and Behavior Program, H. Lee Moffitt Cancer Center, Tampa, Florida, USA.
Department of Health Sciences Research, Mayo Clinic, Scottsdale, Arizona, USA.
Genet Med. 2015 Sep;17(9):739-46. doi: 10.1038/gim.2014.185. Epub 2015 Jan 8.
The aim of this study was to explore genetic counselors' information preferences on reports of variant of uncertain significance (VUS) results from cancer genetic testing.
This mixed methods report (quantitative and qualitative approaches) utilized a survey of genetic counselors containing closed- and open-ended questions to explore genetic counselors' information needs and perceptions of the industry's current information sharing practices. Descriptive statistics were calculated for responses to the closed-ended questions, and thematic analysis guided the interpretation of the open-ended questions.
Of the 267 participants (28.6% response rate), the majority indicated a perceived lack of information on VUS laboratory reports, were concerned about the perceived practice of withholding information, and stated the information they wanted to see. Although most did not indicate how additional information would be used, some reported they would provide information directly to patients, and others reported that the information would be used to contextualize the VUS result when counseling patients.
This analysis identified information that genetic counselors believe is needed in VUS reports, indicating what they believe are best practices in lieu of guidelines for laboratories currently providing genetic testing services. Future studies should explore how genetic counselors use additional information contained in VUS reports.Genet Med 17 9, 739-746.
本研究旨在探讨遗传咨询师对于癌症基因检测中意义未明变异（VUS）结果报告的信息偏好。
本混合方法报告（定量和定性方法）采用了一项针对遗传咨询师的调查，其中包含封闭式和开放式问题，以探究遗传咨询师的信息需求以及对行业当前信息共享实践的看法。对封闭式问题的回答进行了描述性统计分析，对开放式问题的解读则采用了主题分析法。
在267名参与者中（回复率为28.6%），大多数人表示认为VUS实验室报告缺乏信息，对信息隐瞒的做法表示担忧，并说明了他们希望看到的信息。尽管大多数人未表明将如何使用额外信息，但一些人报告称会直接向患者提供信息，另一些人则报告称在为患者提供咨询时，这些信息将用于解读VUS结果。
该分析确定了遗传咨询师认为VUS报告中需要的信息，表明了他们所认为的替代当前提供基因检测服务实验室指南的最佳做法。未来的研究应探索遗传咨询师如何使用VUS报告中包含的额外信息。《遗传医学》17卷9期，739 - 746页。
