Department of Clinical Genetics, Amsterdam UMC (Location AMC)/University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, the Netherlands.
Netherlands Heart Institute, Utrecht, the Netherlands.
BMC Med Ethics. 2021 Nov 23;22(1):155. doi: 10.1186/s12910-021-00721-4.
With advances in sequencing technologies, increasing numbers of people are being informed about a genetic disease identified in their family. In current practice, probands (the first person in a family in whom a genetic predisposition is identified) are asked to inform at-risk relatives about the diagnosis. However, previous research has shown that relatives are sometimes not informed due to barriers such as family conflicts. Research on family communication in genetic diseases aims to explore the difficulties encountered in informing relatives and to identify ways to support probands in this.
Research on family communication may also reveal that participants did not inform their relatives about the risk of a serious genetic condition, even when preventive and treatment options are available. Researchers may then face a dilemma: Do they need to warn at-risk relatives about the finding? Or do they keep silent due to prior confidentiality agreements with study participants?
We believe that the absolute confidence promised to research participants outweighs the interests of their relatives, even though it can be claimed that relatives at risk of a genetic disease do, in principle, have a right to know information collected about their health. Not respecting confidentiality agreements could cause distrust between researchers and research participants and possibly harm the relationship between probands and relatives. Relatives' health interests can still be taken into account without jeopardizing participant trust, by considering alternative scenarios, including sharing general study findings on the barriers participants experience with their healthcare professionals and by offering participants psychosocial support for family communication.
随着测序技术的进步，越来越多的人被告知其家族中存在某种遗传性疾病。在当前的实践中，先证者（即第一个被确定具有遗传易感性的家族成员）被要求将诊断结果告知有风险的亲属。然而，先前的研究表明，由于家庭冲突等障碍，亲属有时并未被告知。遗传性疾病的家庭沟通研究旨在探讨告知亲属时遇到的困难，并确定如何为先证者提供支持。
家庭沟通研究还可能表明，即使有预防和治疗选择，参与者也没有将严重遗传疾病的风险告知亲属。研究人员可能会面临困境：他们是否需要将这一发现告知有风险的亲属？还是由于与研究参与者的先前保密协议而保持沉默？
我们认为，对研究参与者的绝对信任超过了亲属的利益，尽管可以声称，患有遗传性疾病风险的亲属原则上有权了解收集到的有关其健康的信息。不遵守保密协议可能会导致研究人员和研究参与者之间失去信任，并可能损害先证者与亲属之间的关系。如果考虑替代方案，包括与医疗保健专业人员分享参与者在与他们的医疗保健专业人员沟通时遇到的障碍的一般研究结果，并为参与者提供家庭沟通的社会心理支持，就不会危及参与者的信任，仍然可以考虑亲属的健康利益。
