Dugan R Beth, Wiesner Georgia L, Juengst Eric T, O'Riordan Maryann, Matthews Anne L, Robin Nathaniel H
Hutzel Hospital, Detroit, MI, USA.
Am J Med Genet C Semin Med Genet. 2003 May 15;119C(1):27-34. doi: 10.1002/ajmg.c.10005.
When a patient refuses to inform relatives of their risk for genetic disease, the genetic healthcare professional is faced with conflicting ethical obligations. On one side of the issue is the obligation to respect and protect patients' right to privacy. On the other side is the obligation to prevent harm and promote the welfare of the family members, which suggests a responsibility to warn at-risk relatives, even without the patient's consent. In an effort to examine the actual clinical impact of this issue, we conducted a pilot study that explored genetic counselors' experience with this conflict. A survey was developed and made available to members of the National Society of Genetic Counselors. Questions were either multiple-choice responses or open-ended. Almost half of respondents (119/259; 46%) had had a patient refuse to notify an at-risk relative. The most commonly cited reasons for refusal were estranged family relationships, altering family dynamics, insurance discrimination, and employment discrimination, respectively. Of these 119 counselors, 24 (21%) reported that they seriously considered warning the at-risk relatives without patient consent, and one actually did disclose. Three factors consistently made the counselors less likely to disclose: their patient's potential emotional reaction, the relationship between the relative and patient, and the chance that the relative could be aware of the disease by another means. These results suggest that while the conflict is often encountered in clinical practice, it is rare that the situation remains unresolved to the extent that genetic counselors actually consider warning at-risk relatives. However, when the situation was encountered, the counselors in this study reported a lower rate of disclosure without consent than would have been anticipated based on previous studies that used hypothetical situations. It may be that counselors do not recognize a duty to warn at-risk relatives as integral to their role and professional obligations.
当患者拒绝将其患遗传病的风险告知亲属时，基因保健专业人员面临相互冲突的伦理义务。问题的一方面是尊重和保护患者隐私权的义务。另一方面是预防伤害和促进家庭成员福祉的义务，这意味着即使未经患者同意，也有责任警告有风险的亲属。为了研究这个问题的实际临床影响，我们进行了一项试点研究，探讨了基因咨询师在这种冲突中的经历。我们设计了一项调查，并提供给美国国家基因咨询师协会的成员。问题既有多项选择题，也有开放式问题。几乎一半的受访者（119/259；46%）曾遇到过患者拒绝通知有风险的亲属的情况。最常被提及的拒绝理由分别是家庭关系疏远、改变家庭动态、保险歧视和就业歧视。在这119名咨询师中，24名（21%）报告说他们认真考虑过在未经患者同意的情况下警告有风险的亲属，其中一名实际上进行了披露。有三个因素一直使咨询师不太可能进行披露：患者可能的情绪反应、亲属与患者之间的关系以及亲属可能通过其他方式知晓疾病的可能性。这些结果表明，虽然在临床实践中经常遇到这种冲突，但基因咨询师实际考虑警告有风险亲属的情况很少得不到解决。然而，当遇到这种情况时，本研究中的咨询师报告的未经同意进行披露的比例低于基于以往使用假设情况的研究所预期的比例。可能是咨询师没有认识到警告有风险亲属的义务是其角色和职业义务的一个组成部分。
