Department of Paediatrics, University of Melbourne, Melbourne, Australia.
BMC Med Genet. 2014 Mar 14;15:33. doi: 10.1186/1471-2350-15-33.
Genetic information given to an individual newly diagnosed with a genetic condition is likely to have important health implications for other family members. The task of communicating with these relatives commonly falls to the newly diagnosed person. Talking to relatives about genetic information can be challenging and is influenced by many factors including family dynamics. Research shows that many relatives remain unaware of relevant genetic information and the possible impact on their own health. This study aims to evaluate whether a specific genetic counselling intervention for people newly diagnosed with a genetic condition, implemented over the telephone on a number of occasions, could increase the number of at-risk relatives who make contact with genetics services after a new genetic diagnosis within a family.
This is a prospective, multi-centre randomised controlled trial being conducted at genetics clinics at five public hospitals in Victoria, Australia. A complex genetic counselling intervention has been developed specifically for this trial. Probands (the first person in a family to present with a diagnosis of a genetic condition) are being recruited and randomised into one of two arms - the telephone genetic counselling intervention arm and the control arm receiving usual care. The number of at-risk relatives for each proband will be estimated from a family pedigree collected at the time of diagnosis. The primary outcome will be measured by comparing the proportion of at-risk relatives in each arm of the trial who make subsequent contact with genetics services.
This study, the first randomised controlled trial of a complex genetic counselling intervention to enhance family communication, will provide evidence about how best to assist probands to communicate important new genetic information to their at-risk relatives. This will inform genetic counselling practice in the context of future genomic testing.
Australia and New Zealand Clinical Trials Register (ANZCTR): ANZCTRN12608000642381.
刚被诊断出患有遗传疾病的个体所获得的遗传信息很可能对其他家庭成员的健康产生重要影响。与这些亲属沟通的任务通常落在新诊断的人身上。与亲属谈论遗传信息可能具有挑战性，并且受到许多因素的影响，包括家庭动态。研究表明，许多亲属仍然不知道相关的遗传信息及其对自己健康的可能影响。本研究旨在评估针对新诊断出遗传疾病的个体实施的特定遗传咨询干预措施是否可以增加在家庭中出现新的遗传诊断后，与遗传服务联系的高危亲属的数量。
这是一项在澳大利亚维多利亚州五家公立医院的遗传诊所进行的前瞻性、多中心随机对照试验。已经为该试验专门开发了一种复杂的遗传咨询干预措施。先证者（家庭中第一个被诊断出遗传疾病的人）正在招募并随机分配到两个组之一 - 电话遗传咨询干预组和接受常规护理的对照组。将根据在诊断时收集的家族系谱图来估计每个先证者的高危亲属数量。主要结果将通过比较试验中每个组的高危亲属中有多少人随后与遗传服务联系来衡量。
这是第一项关于增强家庭沟通的复杂遗传咨询干预措施的随机对照试验，将提供有关如何帮助先证者向高危亲属传达重要新遗传信息的最佳方法的证据。这将为未来基因组检测背景下的遗传咨询实践提供信息。
澳大利亚和新西兰临床试验注册中心（ANZCTR）：ANZCTRN12608000642381。
