Dheensa Sandi, Fenwick Angela, Lucassen Anneke
Clinical Ethics and Law, Faculty of Medicine, University of Southampton, Southampton, UK.
Clinical Ethics and Law, Faculty of Medicine, University of Southampton, Southampton, UK Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust.
J Med Ethics. 2016 Mar;42(3):174-9. doi: 10.1136/medethics-2015-102781. Epub 2016 Jan 7.
In genetic medicine, a patient's diagnosis can mean their family members are also at risk, raising a question about how consent and confidentiality should function in clinical genetics. This question is particularly pressing when it is unclear whether a patient has shared information. Conventionally, healthcare professionals view confidentiality at an individual level and 'disclosure without consent' as the exception, not the rule. The relational joint account model, by contrast, conceptualises genetic information as confidential at the familial level and encourages professionals to take disclosure as the default position. In this study, we interviewed 33 patients about consent and confidentiality and analysed data thematically. Our first theme showed that although participants thought of certain aspects of genetic conditions--for example, the way they affect day-to-day health--as somewhat personal, they perceived genetic information--for example, the mutation in isolation--as familial. Most thought these elements were separable and thought family members had a right to know the latter, identifying a broad range of harms that would justify disclosure. Our second theme illustrated that participants nonetheless had some concerns about what, if any, implications there would be of professionals treating such information as familial and they emphasised the importance of being informed about the way their information would be shared. Based on these results, we recommend that professionals take disclosure as the default position, but make clear that they will treat genetic information as familial during initial consultations and address any concerns therein.
在基因医学中，患者的诊断结果可能意味着其家庭成员也面临风险，这就引发了一个问题：在临床遗传学中，同意和保密应如何发挥作用。当不清楚患者是否已分享信息时，这个问题就尤为紧迫。传统上，医疗保健专业人员将保密视为个体层面的行为，“未经同意披露信息”是例外情况，而非常规做法。相比之下，关系联合账户模式将基因信息视为家庭层面的机密信息，并鼓励专业人员将披露作为默认立场。在本研究中，我们采访了33名患者，询问他们关于同意和保密的问题，并对数据进行了主题分析。我们的第一个主题表明，尽管参与者认为某些基因状况方面——例如，它们影响日常健康的方式——有点私密，但他们将基因信息——例如，单独的突变——视为家庭层面的信息。大多数人认为这些要素是可分离的，并认为家庭成员有权了解后者，他们指出了一系列足以证明披露合理的危害。我们的第二个主题表明，参与者仍然担心专业人员将此类信息视为家庭层面的信息会有什么影响（如果有影响的话），他们强调了了解其信息将如何被分享的重要性。基于这些结果，我们建议专业人员将披露作为默认立场，但要明确表示，他们将在初次咨询期间将基因信息视为家庭层面的信息，并解决其中的任何担忧。
