Wright Martha F, Lewis Katie L, Fisher Tyler C, Hooker Gillian W, Emanuel Toby E, Biesecker Leslie G, Biesecker Barbara B
Genetic Disease & Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Social & Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Genet Med. 2014 Jun;16(6):442-7. doi: 10.1038/gim.2013.170. Epub 2013 Dec 5.
The aim of this study was to explore the implications of sequencing information and stated preferences for return of results among research participants.
Six focus groups were held with 39 ClinSeq participants. The groups included participants who had received results, those who had not, those affected with cardiovascular disease, and healthy adults. Audio recordings of the sessions were transcribed and coded and analyzed for themes.
All participants expressed interest in receiving results that are medically actionable, nonactionable, carrier, and less so variants that cannot be interpreted. Most participants preferred to receive results in person, although several endorsed use of Internet-based resources that they could return to. Participants identified benefits for health management along with satisfying curiosity, making scientific contributions, and partnering in research. Value was seen in gaining control over health risks. Concerns were distress and/or fear that may result. Some participants were opposed to or ambivalent about learning certain types of results, particularly those having to do with diseases that were incurable or that might have implications for the health of their children.
There was relative enthusiasm about the value of learning sequencing information, yet it was tempered by concern about negative feeling responses and aversion to learning about incurable conditions.
本研究旨在探讨测序信息的意义以及研究参与者对结果反馈的明确偏好。
对39名临床测序项目参与者进行了6次焦点小组访谈。这些小组包括已收到结果的参与者、未收到结果的参与者、患有心血管疾病的参与者以及健康成年人。对访谈的音频记录进行了转录、编码和主题分析。
所有参与者都表示有兴趣收到具有医学可操作性、不可操作性、携带者相关以及难以解释的变异等结果。大多数参与者倾向于亲自接收结果，不过也有一些人认可使用他们可以随时查阅的基于互联网的资源。参与者们指出了健康管理方面的益处，以及满足好奇心、做出科学贡献和参与研究合作等方面的好处。他们认为在控制健康风险方面有价值。担忧的是可能会产生困扰和/或恐惧。一些参与者反对或对了解某些类型的结果持矛盾态度，特别是那些与无法治愈的疾病或可能对其子女健康有影响的疾病有关的结果。
对于了解测序信息的价值存在相对较高的热情，但对负面情绪反应的担忧以及对了解不治之症的反感使其有所缓和。
