INTRODUCTION:Genome sequencing, a novel genetic diagnostic technology that analyses the billions of base pairs of DNA, promises to optimise healthcare through personalised diagnosis and treatment. However, implementation of genome sequencing faces challenges including the lack of consensus on disclosure of incidental results, gene changes unrelated to the disease under investigation, but of potential clinical significance to the patient and their provider. Current recommendations encourage clinicians to return medically actionable incidental results and stress the importance of education and informed consent. Given the shortage of genetics professionals and genomics expertise among healthcare providers, decision aids (DAs) can help fill a critical gap in the clinical delivery of genome sequencing. We aim to assess the effectiveness of an interactive DA developed for selection of incidental results. METHODS AND ANALYSIS:We will compare the DA in combination with a brief Q&A session with a genetic counsellor to genetic counselling alone in a mixed-methods randomised controlled trial. Patients who received negative standard cancer genetic results for their personal and family history of cancer and are thus eligible for sequencing will be recruited from cancer genetics clinics in Toronto. Our primary outcome is decisional conflict. Secondary outcomes are knowledge, satisfaction, preparation for decision-making, anxiety and length of session with the genetic counsellor. A subset of participants will complete a qualitative interview about preferences for incidental results. ETHICS AND DISSEMINATION:This study has been approved by research ethics boards of St. Michael's Hospital, Mount Sinai Hospital and Sunnybrook Health Sciences Centre. This research poses no significant risk to participants. This study evaluates the effectiveness of a novel patient-centred tool to support clinical delivery of incidental results. Results will be shared through national and international conferences, and at a stakeholder workshop to develop a consensus statement to optimise implementation of the DA in practice. TRIAL REGISTRATION NUMBER:NCT03244202; Pre-results.

译文

简介:基因组测序是一种新颖的遗传诊断技术,可分析数十亿个碱基对的DNA,有望通过个性化的诊断和治疗来优化医疗保健。然而,基因组测序的实施面临挑战,包括在偶然结果披露方面缺乏共识,与研究中的疾病无关的基因改变,但对患者及其提供者具有潜在的临床意义。当前的建议鼓励临床医生返回具有医疗作用的偶然结果,并强调教育和知情同意的重要性。鉴于医疗保健提供者中缺少遗传学专业人士和基因组学专业知识,因此决策辅助(DA)可以帮助填补基因组测序临床交付中的关键空白。我们旨在评估为选择偶然结果而开发的交互式DA的有效性。
方法和分析:我们将在混合方法随机对照试验中,将DA与遗传咨询师进行的简短问答环节与单独的遗传咨询相比较。因其个人和家族癌症史而获得阴性标准癌症遗传结果并因此有资格进行测序的患者将从多伦多癌症遗传学诊所招募。我们的主要结果是决策冲突。次要结果是知识,满意度,决策准备,焦虑和与遗传咨询师的会谈时间。一部分参与者将完成有关偶然结果偏好的定性访谈。
道德与传播:本研究已获得圣迈克尔医院,西奈山医院和森尼布鲁克健康科学中心的研究伦理委员会的批准。这项研究不会给参与者带来重大风险。这项研究评估了一种新型的以患者为中心的工具来支持临床结果附带结果的有效性。结果将通过国家和国际会议,以及在一个利益相关者研讨会上共享,以形成共识声明,以在实践中优化发展议程的实施。
试用注册号:NCT03244202;结果。

+1
+2
100研值 100研值 ¥99课程
检索文献一次
下载文献一次

去下载>

成功解锁2个技能,为你点赞

《SCI写作十大必备语法》
解决你的SCI语法难题!

技能熟练度+1

视频课《玩转文献检索》
让你成为检索达人!

恭喜完成新手挑战

手机微信扫一扫,添加好友领取

免费领《Endnote文献管理工具+教程》

微信扫码, 免费领取

手机登录

获取验证码
登录