直接面向消费者的基因检测对澳大利亚临床遗传学服务的影响。
Impact of direct-to-consumer genetic testing on Australian clinical genetics services.
机构信息
University of Melbourne, Melbourne, Australia.
Public Health Genomics, Monash University, Melbourne, Australia.
出版信息
Eur J Med Genet. 2020 Sep;63(9):103968. doi: 10.1016/j.ejmg.2020.103968. Epub 2020 Jun 2.
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，被认为给全球临床基因服务带来了负担。然而，澳大利亚尚无研究收集关于这一影响的最新证据。我们对澳大利亚临床遗传学服务机构在过去 10 年中与 DTCGT 相关的转介情况进行了调查。11 家公共资助的服务机构报告了超过 100 例与 DTCGT 相关的转介。大多数（83%）涉及全科医生寻求解释 DTCGT 结果。超过 30%涉及第三方软件工具推断的风险估计值。服务机构报告对 DTCGT 结果的验证率很低（<10%），并且对 DTCGT 转介的管理程序也各不相同，大多数（8/11）机构缺乏具体的程序。我们的研究有助于量化 DTCGT 对临床遗传学服务的影响，并强调了推断风险估计值的影响。
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