Tiller Jane, Finlay Keri, Madelli Evanthia O, Monnik Melissa, Jackson Matilda R, Poplawski Nicola, Boughtwood Tiffany, Nowak Kristen J, Otlowski Margaret
Australian Genomics, Parkville, VIC, Australia.
Murdoch Children's Research Institute, Parkville, VIC, Australia.
Eur J Hum Genet. 2025 Apr;33(4):485-495. doi: 10.1038/s41431-024-01764-y. Epub 2024 Dec 17.
Genetic testing of blood relatives of individuals at high risk of dominant conditions has significant preventive health benefits. However, cascade testing uptake is <50%. Research shows increased testing uptake when health professionals (HPs) contact at-risk relatives directly, with patient consent. Despite international support, this is not standard practice in Australia. We aimed to gather perspectives of genetic testing patients about direct-contact methods. Using an online survey, we surveyed Australian adults with genetic results of relevance for relatives, including patients who (i) self-categorised as being directly contacted by a clinical service, (ii) self-categorised as being referred by a HP, and (iii) received genetic results through a research study. Overall, 442 patients responded (clinical n = 363; research n = 79). Clinical patients self-categorised as 49.0% directly-contacted and 51.0% referred. Overall, the majority of patients had no privacy concerns about direct-contact methods (direct-contact 97%; referred 77%; research 76%). Less than 5% of the combined cohort (n = 19/442) reported significant concerns. The most prevalent concerns were the need for consent to provide HPs with relatives' contact details, and a patient preference to notify relatives before HP contact. Other key findings include preferences about contact methods, including that most patients who received a letter from a genetics service preferred a letter with specific information about the familial genetic condition (n = 141/149; 94.6%) than one with general information about genetic risk. Our findings indicate Australian patients support HPs using direct-contact methods to assist with risk communication to relatives. Findings also identify concerns to be addressed in the design of direct-contact programs.
对显性遗传病高危个体的血亲进行基因检测具有显著的预防性健康益处。然而，级联检测的接受率低于50%。研究表明，在患者同意的情况下，卫生专业人员（HP）直接联系高危亲属时，检测接受率会提高。尽管得到了国际支持，但这在澳大利亚并非标准做法。我们旨在收集基因检测患者对直接联系方法的看法。通过在线调查，我们对有与亲属相关基因检测结果的澳大利亚成年人进行了调查，包括（i）自我归类为被临床服务直接联系的患者，（ii）自我归类为由卫生专业人员转诊的患者，以及（iii）通过研究获得基因检测结果的患者。总体而言，442名患者做出了回应（临床组n = 363；研究组n = 79）。临床患者自我归类为49.0%被直接联系和51.0%被转诊。总体而言，大多数患者对直接联系方法没有隐私担忧（直接联系组97%；转诊组77%；研究组76%）。合并队列中不到5%（n = 19/442）的患者表示有重大担忧。最普遍的担忧是需要获得同意才能向卫生专业人员提供亲属的联系方式，以及患者倾向于在卫生专业人员联系之前通知亲属。其他主要发现包括对联系方法的偏好，例如，大多数收到遗传学服务机构来信的患者更喜欢收到一封包含家族遗传病具体信息的信（n = 141/149；94.6%），而不是包含基因风险一般信息的信。我们的研究结果表明，澳大利亚患者支持卫生专业人员使用直接联系方法来协助向亲属进行风险沟通。研究结果还确定了在直接联系项目设计中需要解决的问题。
