Impact of direct-to-consumer genetic testing on Australian clinical genetics services.
Impact of direct-to-consumer genetic testing on Australian clinical genetics services.
复制标题
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。
DOI：
10.1101/2020.03.05.20031963
复制
发表时间：
2020
影响因子：
1.9
通讯作者：
P. Lacaze
中科院分区：
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作者：
Michael Millward;J. Tiller;M. Bogwitz;H. Kincaid;Shelby Taylor;A. Trainer;P. Lacaze
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.
哈佛大学陈曾熙公共卫生学院/哈佛大学医学院（美国）
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