1] Clinical Ethics and Law at Southampton (CELS), Faculty of Medicine, University of Southampton, Southampton, UK [2] Wessex Clinical Genetics Service, The Princess Anne Hospital, Southampton, UK.
Genet Med. 2013 Nov;15(11):896-9. doi: 10.1038/gim.2013.165. Epub 2013 Oct 3.
The aim of this study was to explore the clinical management of incidental findings. Advances in the speed and sensitivity of genetic technologies have not only improved the diagnostic rate but also result in an increase in unanticipated diagnoses. Recent debate on such "incidental findings" has considered whether or not to actively search for and, then, disclose incidental findings. In our experience, many incidental findings need to be investigated in family members before their clinical significance can be assessed. This adds complexity to the debate about disclosure.
Using anonymized clinical examples, we illustrate the downstream implications when a result reveals an incidental abnormality of potential clinical significance that is not related to the reasons for doing the test.
Our examples illustrate that the determination of clinical significance may require participation of family members in both testing and surveillance.
The need to investigate multiple relatives in order to decide whether or not a finding is clinically significant has implications for consent and disclosure practices. Communication with, and care for, relatives who have no reason to suspect particular diagnoses is a challenge for any health-care service. These costs also need to be taken into account as genetic testing enters mainstream medicine.
本研究旨在探讨偶然发现的临床处理。遗传技术的速度和灵敏度的提高不仅提高了诊断率，而且还导致意外诊断的增加。最近关于这些“偶然发现”的争论考虑了是否主动寻找并披露偶然发现。根据我们的经验，许多偶然发现需要在评估其临床意义之前在家庭成员中进行调查。这增加了关于披露的争论的复杂性。
我们使用匿名的临床案例来说明当结果显示出与测试原因无关的潜在临床意义的偶然异常时，会产生什么下游影响。
我们的例子表明，临床意义的确定可能需要家庭成员参与测试和监测。
为了确定发现是否具有临床意义，需要对多个亲属进行调查，这对同意和披露实践产生了影响。与没有理由怀疑特定诊断的亲属进行沟通和护理是任何医疗保健服务的挑战。随着基因测试进入主流医学，这些成本也需要考虑在内。
