Public Health Genomics, Monash University, Melbourne, Australia.
Western Australian Department of Health, Perth, Australia.
Eur J Med Genet. 2020 Nov;63(11):104035. doi: 10.1016/j.ejmg.2020.104035. Epub 2020 Aug 14.
Genetic risk information is relevant to individual patients and also their blood relatives. Health practitioners (HPs) routinely advise patients of the importance of sharing genetic information with family members, especially for clinically actionable conditions where prevention is possible. However, some patients refuse to share genetic results with at-risk relatives, and HPs must choose whether to use or disclose genetic information without consent. This requires an understanding of their legal and ethical obligations, which research shows many HPs do not have. A recent UK case held that HPs have a duty to a patient's relatives where there is a proximate relationship, to conduct a balancing exercise of the benefit of disclosure of the genetic risk information to the relative against the interest of the patient in maintaining confidentiality. In Australia, there is currently no legal duty to disclose genetic information to a patient's at-risk relatives, but there are laws and guidelines governing unconsented use/disclosure of genetic information. These laws are inconsistent across different Australian states and health contexts, requiring greater harmonisation. Here we provide an up-to-date and clinically accessible resource summarising the laws applying to HPs across Australia, and outline five Australian case studies which have arisen in clinical genetics services, regarding the disclosure of genetic results to relatives without consent. The issues addressed here are relevant to any Australian HP with access to genetic information, as well as HPs and policy-makers in other jurisdictions considering these issues.
遗传风险信息与个体患者及其血缘亲属都相关。医疗保健从业者（HPs）通常会告知患者与家庭成员分享遗传信息的重要性，特别是对于那些可以预防的具有临床可操作性的疾病。然而，有些患者拒绝将遗传结果与有风险的亲属分享，HPs 必须在未经同意的情况下选择是否使用或披露遗传信息。这需要他们了解自己的法律和道德义务，而研究表明，许多 HPs 并不了解这些义务。最近英国的一个案例认为，在存在近亲关系的情况下，HPs 对患者的亲属负有责任，需要对向亲属披露遗传风险信息的好处与患者维护保密性的利益进行权衡。在澳大利亚，目前没有向患者的有风险亲属披露遗传信息的法律义务，但有法律和准则来规范未经同意使用/披露遗传信息的行为。这些法律在澳大利亚不同的州和卫生部门之间存在不一致，需要进一步协调。在这里，我们提供了一份最新的、临床适用的资源，总结了适用于澳大利亚各地 HPs 的法律，并概述了在临床遗传学服务中出现的五个涉及未经同意向亲属披露遗传结果的澳大利亚案例研究。这里讨论的问题与任何有权访问遗传信息的澳大利亚 HPs 以及其他正在考虑这些问题的司法管辖区的 HPs 和政策制定者都相关。
