Dheensa Sandi, Carrieri Daniele, Kelly Susan, Clarke Angus, Doheny Shane, Turnpenny Peter, Lucassen Anneke
Clinical Ethics and Law, Faculty of Medicine, University of Southampton, UK; ELSI Group, Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Egenis, University of Exeter, UK.
Eur J Med Genet. 2017 Jul;60(7):403-409. doi: 10.1016/j.ejmg.2017.05.001. Epub 2017 May 10.
Advances in genomics often lead healthcare professionals (HCPs) to learn new information, e.g., about reinterpreted variants that could have clinical significance for patients seen previously. A question arises of whether HCPs should recontact these former patients. We present some findings interrogating the views of patients (or parents of patients) with a rare or undiagnosed condition about how such recontacting might be organised ethically and practically. Forty-one interviews were analysed thematically. Participants suggested a 'joint venture' model in which efforts to recontact are shared with HCPs. Some proposed an ICT-approach involving an electronic health record that automatically alerts them to potentially relevant updates. The need for rigorous privacy controls and transparency about who could access their data was emphasised. Importantly, these findings highlight that the lack of clarity about recontacting is a symptom of a wider problem: the lack of necessary infrastructure to pool genomic data responsibly, to aggregate it with other health data, and to enable patients/parents to receive updates. We hope that our findings will instigate a debate about the way responsibilities for recontacting under any joint venture model could be allocated, as well as the limitations and normative implications of using ICT as a solution to this intractable problem. As a first step to delineating responsibilities in the clinical setting, we suggest HCPs should routinely discuss recontacting with patients/parents, including the new information that should trigger a HCP to initiate recontact, as part of the consent process for genetic testing.
基因组学的进展常常促使医疗保健专业人员（HCPs）去学习新信息，例如，关于那些可能对之前看过的患者具有临床意义的重新解读的变异。于是就出现了一个问题，即HCPs是否应该重新联系这些以前的患者。我们展示了一些调查结果，这些结果询问了患有罕见或未确诊疾病的患者（或患者父母）对于如何在伦理和实际操作上组织这种重新联系的看法。对41次访谈进行了主题分析。参与者提出了一种“合资企业”模式，即与HCPs共同努力进行重新联系。一些人提议采用一种信息通信技术方法，涉及一个电子健康记录，该记录能自动提醒他们注意潜在的相关更新。强调了对严格隐私控制以及谁可以访问他们数据的透明度的需求。重要的是，这些发现突出表明，重新联系方面缺乏明确性是一个更广泛问题的症状：缺乏负责汇总基因组数据、将其与其他健康数据整合以及使患者/父母能够接收更新的必要基础设施。我们希望我们的发现将引发一场关于在任何合资企业模式下重新联系的责任如何分配的辩论，以及将信息通信技术用作解决这个棘手问题的方法的局限性和规范性影响。作为在临床环境中界定责任的第一步，我们建议HCPs应在基因检测的同意过程中，常规地与患者/父母讨论重新联系的问题，包括应该促使HCPs发起重新联系的新信息。
