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Clinician perspectives on policy approaches to genetic risk disclosure in families
Familial Cancer ( IF 2.2 ) Pub Date : 2024-03-28 , DOI: 10.1007/s10689-024-00375-2
Amicia Phillips , Danya F. Vears , Ine Van Hoyweghen , Pascal Borry

Genomic sequencing has emerged as a powerful tool with significant implications for patients and their relatives, however, empirical evidence suggests that effective dissemination of risk information within families remains a challenge. Policy responses to address this issue vary across countries, with Belgium notably lacking specific regulations governing nondisclosure of genetic risk. In this study, we conducted semi-structured interviews with clinicians from Belgian clinical genetics centers to gain insight into their perspectives on policy approaches to the disclosure of genetic risk within families. Using real-world examples of legislation and court rulings from France, Australia, and the UK, we explored clinician viewpoints on the roles and responsibilities of both patients and clinicians in the family communication process. Clinicians expressed confusion regarding what was legally permissible regarding contacting at-risk relatives. While there was a consensus among participants that patients have a responsibility to inform their at-risk relatives, participants were hesitant to support the legal enforcement of this duty. Clinicians mostly recognized some responsibility to at-risk relatives, but the extent of this responsibility was a subject of division. Our findings highlight the need for a comprehensive policy that clarifies the roles and responsibilities of clinicians and patients to inform at-risk relatives. Furthermore, the study underscores the practical challenges clinicians face in supporting patients through the complex process of family communication, suggesting a need for additional resources and the exploration of alternative approaches to communication.



中文翻译:

临床医生对家庭遗传风险披露政策方法的看法

基因组测序已成为一种强大的工具,对患者及其亲属具有重大影响,然而,经验证据表明,在家庭内有效传播风险信息仍然是一个挑战。各国解决这一问题的政策反应各不相同,比利时尤其缺乏管理不披露遗传风险的具体法规。在这项研究中,我们对比利时临床遗传学中心的临床医生进行了半结构化访谈,以深入了解他们对披露家庭遗传风险的政策方法的看法。我们利用法国、澳大利亚和英国的立法和法院裁决的现实例子,探讨了临床医生对患者和临床医生在家庭沟通过程中的角色和责任的看法。临床医生对于法律允许联系高危亲属的行为表示困惑。尽管参与者一致认为患者有责任告知其有风险的亲属,但参与者对支持法律强制执行这一义务犹豫不决。临床医生大多认识到对高危亲属负有一定责任,但这种责任的程度存在分歧。我们的研究结果强调需要制定一项全面的政策,明确临床医生和患者的角色和责任,以告知高危亲属。此外,该研究强调了临床医生在通过复杂的家庭沟通过程支持患者时面临的实际挑战,表明需要额外的资源并探索替代的沟通方法。

更新日期:2024-03-29
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