The increasing popularity of direct-to-consumer genetic testing (DTCGT) is thought to be creating a burden on clinical genetic services worldwide. However, no Australian studies have collected recent evidence regarding this impact. We surveyed Australian clinical genetics services about DTCGT-related referrals over the past 10 years. Eleven publicly-funded services reported over 100 DTCGT-related referrals. Most (83%) involved general practitioners seeking interpretation of DTCGT results. More than 30% involved imputed risk estimates from third-party software tools. Services reported low validation rates for DTCGT results (<10%), and variable procedures for managing DTCGT referrals, with most (8/11) lacking specific procedures. Our study helps quantify the impact of DTCGT on clinical genetics services, and highlights the impact of imputed risk estimates.

直接面向消费者的基因检测（DTCGT）日益普及，这正在给全球临床基因服务造成负担。但是，没有澳大利亚的研究收集到有关这种影响的最新证据。我们调查了过去10年中有关DTCGT相关转诊的澳大利亚临床遗传学服务。11个由政府资助的服务报告了超过100个与DTCGT相关的推荐。大部分（83％）的全科医生寻求DTCGT结果的解释。超过30％的涉及来自第三方软件工具的估算风险估算。服务部门报告的DTCGT结果验证率很低（<10％），并且管理DTCGT推荐人的程序可变，其中大多数（8/11）缺少特定程序。我们的研究有助于量化DTCGT对临床遗传学服务的影响，