The University of Sydney, Northern Clinical School, Faculty of Medicine and Health, Level 7, Kolling Institute of Medical Research, Royal North Shore Hospital, Sydney, NSW, Australia.
Centre for Genetics Education, NSW Health, Sydney, NSW, Australia.
BMC Med Ethics. 2020 Feb 4;21(1):13. doi: 10.1186/s12910-020-0451-1.
When a genetic mutation is identified in a family member (proband), internationally, it is usually the proband's or another responsible family member's role to disclose the information to at-risk relatives. However, both active and passive non-disclosure in families occurs: choosing not to communicate the information or failing to communicate the information despite intention to do so, respectively. The ethical obligations to prevent harm to at-risk relatives and promote the duty of care by genetic health professionals (GHPs) is in conflict with Privacy laws and professional regulations that prohibits disclosure of information to a third party without the consent of the proband (duty of confidentiality). In New South Wales (NSW), Australia, amendments to Privacy legislation permits such disclosure to living genetic relatives with the process defined under guidelines although there is no legal duty to warn. This study assessed NSW GHP's awareness and experience of the legislation and guidelines.
An online survey collected demographics; theoretical knowledge; clinical scenarios to assess application knowledge; attitudes; confidence; experience with active non-disclosure. A link to correct answers was provided after completion. Knowledge scores above the median for non-parametric data or above the mean for parametric data were classified as 'good' or 'poor'. Chi square tests assessed associations between confidence and knowledge scores.
While many of the 37 participants reported reading the guidelines, there was limited awareness of their scope and clinical application; that there is no legal duty to warn; and that the threat does not need to be imminent to warrant disclosure. No association between confidence and 'good' theoretical or applied clinical knowledge was identified. Uncertainty of their professional responsibility was identified and in the several case examples of active non-disclosure that were reported this uncertainty reflected the need for further understanding of the guidelines in regard to the processes required before disclosure was initiated.
There is a need for further education and training about the guidelines associated with the legislation that would be relevant to support disclosure. The findings may inform future strategies to support introduction of policy changes in other jurisdictions where similar regulatory regimes are introduced.
当在一个家庭成员（先证者）中发现基因突变时，国际上通常由先证者或另一位负责的家庭成员向有风险的亲属透露信息。然而，在家庭中既存在主动隐瞒，也存在被动隐瞒：分别是选择不交流信息或尽管有交流信息的意图但未能交流信息。预防对有风险的亲属造成伤害以及促使遗传健康专业人员（GHPs）履行关怀责任的道德义务与禁止未经先证者同意将信息透露给第三方的隐私法和专业法规（保密义务）相冲突。在澳大利亚新南威尔士州（NSW），隐私法的修正案允许在有指南规定的情况下将信息透露给在世的遗传亲属，尽管没有法律义务进行警告。本研究评估了 NSW 的 GHPs 对该法规和指南的认识和经验。
在线调查收集了人口统计学数据；理论知识；评估应用知识的临床情景；态度；信心；主动隐瞒的经验。完成后提供了正确答案的链接。对于非参数数据，中位数以上的知识得分或参数数据的平均值以上的知识得分被归类为“好”或“差”。卡方检验评估了信心与知识得分之间的关系。
虽然许多 37 名参与者报告说他们阅读了指南，但他们对其范围和临床应用的认识有限；没有法律义务进行警告；并且威胁不需要迫在眉睫才需要披露。未发现信心与“好”的理论或应用临床知识之间存在关联。他们对自己的专业责任存在不确定性，并且在报告的几个主动隐瞒的案例中，这种不确定性反映了在启动披露之前需要进一步了解指南中关于所需程序的内容。
需要进一步教育和培训与法规相关的指南，这将有助于支持披露。这些发现可能为其他类似监管制度引入的司法管辖区提供信息，以支持介绍政策变更的未来策略。
