Stott Ami, Madelli Evanthia O, Boughtwood Tiffany, Nowak Kristen J, Otlowski Margaret, Tiller Jane
Australian Genomics, Parkville, VIC, Australia.
Murdoch Children's Research Institute, Parkville, VIC, Australia.
Eur J Hum Genet. 2025 Apr;33(4):476-484. doi: 10.1038/s41431-024-01730-8. Epub 2024 Dec 19.
Genetic testing can provide risk information to individuals and their blood relatives. Cascade testing uptake by at-risk relatives is <50%, with suboptimal family communication a key barrier to risk notification. The practice of health professionals (HPs) directly contacting relatives (with patient consent) to assist with risk notification has significant international support, but little is known about the practices and views of HPs in Australia. We surveyed Australian clinical genetics and laboratory services (public and private) which offer genetic testing of relevance to relatives, about current practices and views. Of 104 services invited, 78 responded to our online survey (75.0% response rate; clinical n = 59/81; laboratory n = 19/23). Most clinical services (83.3%) agreed it would be beneficial to contact at-risk relatives directly. However, the majority (80.4%) do not routinely contact relatives directly, with inadequate resources (80.0%) and privacy concerns (62.2%) cited as primary reasons. If direct contact methods were used, most clinical services (65.4%) prefer a letter which includes specific information about the genetic condition. Most clinical (86.5%) and laboratory (88.2%) services saw benefit in the development of a national clinical guideline for HPs regarding direct contact. This study confirms that most clinical genetics services would see benefits to being able to assist patients by contacting relatives directly about their potential genetic risk. Our findings highlight the need for a national clinical guideline clarifying HPs' legal and privacy obligations, and provide an opportunity for clinical services to reconsider their allocation of resources to prioritise assisting patients with risk notification.
基因检测可为个人及其血亲提供风险信息。高危亲属的级联检测接受率低于50%，家庭沟通欠佳是风险告知的一个关键障碍。卫生专业人员（HPs）在患者同意的情况下直接联系亲属以协助风险告知的做法得到了国际上的广泛支持，但对于澳大利亚HPs的做法和观点却知之甚少。我们对澳大利亚提供与亲属相关基因检测的临床遗传学和实验室服务机构（公立和私立）的现行做法和观点进行了调查。在受邀的104家服务机构中，78家回复了我们的在线调查（回复率为75.0%；临床机构n = 59/81；实验室机构n = 19/23）。大多数临床服务机构（83.3%）认为直接联系高危亲属会有帮助。然而，大多数（80.4%）机构并不经常直接联系亲属，主要原因是资源不足（80.0%）和隐私问题（62.2%）。如果采用直接联系的方式，大多数临床服务机构（65.4%）更喜欢包含有关遗传疾病具体信息的信件。大多数临床（86.5%）和实验室（88.2%）服务机构认为制定一项针对HPs直接联系的国家临床指南会有帮助。这项研究证实，大多数临床遗传学服务机构认为能够通过直接联系亲属告知其潜在遗传风险来帮助患者会有好处。我们的研究结果凸显了制定一项国家临床指南以明确HPs法律和隐私义务的必要性，并为临床服务机构提供了一个重新考虑资源分配以优先协助患者进行风险告知的机会。
