Dheensa Sandi, Crawford Gillian, Salter Claire, Parker Michael, Fenwick Angela, Lucassen Anneke
Clinical Ethics and Law, Faculty of Medicine, Southampton General Hospital, University of Southampton, Room AB 203, MP 801, South Academic Block, Tremona Road, Southampton, SO16 6YD, UK.
Wessex Clinical Genetic Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Fam Cancer. 2018 Jan;17(1):155-166. doi: 10.1007/s10689-017-9994-9.
Genetic test results can be relevant to patients and their relatives. Questions thus arise around whether clinicians regard genetic information as confidential to individuals or to families, and about how they broach this and other issues, including the potential for incidental findings, in consent (forms) for genetic testing. We conducted a content analysis of UK-wide genetic testing consent forms and interviewed 128 clinicians/laboratory scientists. We found that almost all genetic services offered patients multiple, sometimes unworkable, choices on forms, including an option to veto the use of familial genetic information to benefit relatives. Participants worried that documented choices were overriding professional judgement and cautioned against any future forms dictating practice around incidental findings. We conclude that 'tick-box' forms, which do little to enhance autonomy, are masking valid consent processes in clinical practice. As genome-wide testing becomes commonplace, we must re-consider consent processes, so that they protects patients'-and relatives'-interests.
基因检测结果可能与患者及其亲属相关。因此，围绕临床医生是将基因信息视为对个人还是对家庭保密，以及他们如何在基因检测同意书（表格）中提及这一问题及其他问题（包括偶发发现的可能性），就产生了疑问。我们对全英国范围的基因检测同意书进行了内容分析，并采访了128位临床医生/实验室科学家。我们发现，几乎所有基因检测服务都在表格上为患者提供了多种（有时难以实行的）选择，包括否决使用家族基因信息使亲属受益的选项。参与者担心记录在案的选择会凌驾于专业判断之上，并告诫不要让未来的任何表格决定围绕偶发发现的做法。我们得出结论，几乎无助于增强自主性的“勾选框”表格正在掩盖临床实践中有效的同意程序。随着全基因组检测变得普遍，我们必须重新考虑同意程序，以便保护患者及其亲属的利益。
