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首页> 美国卫生研究院文献>BMC Health Services Research >Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals
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Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals

机译：提供者是否为基因组医学做好准备：医疗专业人员对直接消费者基因检测（DTC-GT）结果和基因自我效能的解释

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Availability of Direct-to-Consumer genetic testing (DTC-GT) has grown in the United States over the past decade, and they have recently started to cross over from a niche product to something with mainstream appeal [ ]. Interest in DTC-GTs, which are available online from company websites and major retailers like Amazon, have been accelerating. In fact, the DTC-GT kit sold by 23andMe was one of the top 5 best sellers for Amazon’s Black Friday sale in 2017 [ ]. The number of DTC-GT kits sold offering ancestry results has doubled since 2017, with over 12 million kits sold [ ]. Despite the growing interest and use of DTC-GT kits, only 10-20% of DTC-GT customers had shared their genetic test results with primary care physicians [ , ]. Previous studies have shown that the typical consumer of DTC-GTs held both higher levels of education and pay in contrast to the average American citizen [ , ]. As the consumers of these tests continue to shift from hobbyists to the general public, it is likely that more individuals will request assistance in interpreting their results. Previous research has shown that physicians feel ill prepared to educate patients about genetic test results [ – ]. Presently, there is a knowledge gap in how accurately primary care providers can interpret and communicate genetic test results to patients in comparison to genetic specialist. There have been some previous studies which have focused on primary care providers and genetics [ – ] but our study is novel in that it samples a larger cohort of genetic specialists ( =165) and non-genetic providers ( =99). This allows us to provide more robust measurements of interpretation differences between genetic specialists and non-genetic specialists compared to prior studies. Globally, patients from Australia, Germany, United States, and elsewhere have expressed a preference for some form of regulation of DTC-GT and for physician assistance in interpreting this kind of data [ – ]. Purchasing DTC-GT is an elective process for someone to opt-in to, inputting genomic data into patient records will switch gears to an opt-out process. We are approaching a period of time where physicians encountering patients bringing in their DTC-GT reports will shift to genomic results appearing in the majority of all their patient’s EHRs, thanks in part to projects like the Precision Medicine Initiative. Studies like the Clinical Sequencing Exploratory Research Consortium (CSER) [ ] and the electronic MEdical Records and GEnomics (eMERGE) network have been working on integrating genomic medicine into clinical care for several years now. eMERGE has been combining EHRs and genomics to improve discovery and patient care since its launch in 2007 [ , ]. Now in its third round of funding, eMERGE is generating clinically actionable results to return to patients in the EHR [ , ] The CSER Genetic Counseling Working Group (GC WG) was launched in 2012 and is dedicated to assisting genetic counselors with challenges encountered with genomic medicine (genomic education, results disclosure, and other issues) [ ]. As work progresses on these issues, the line separating clinical genetic testing and DTC-GT is becoming harder to define [ ]. Recognizing the current and future need for integration of genomic data into the EHR, the two largest EHR vendors, Epic and Cerner have recently enabled their systems to store structured genomic data in the patient record [ , ].
机译：在过去的十年中，直接面向消费者的基因测试（DTC-GT）在美国的可用性得到了提高，并且最近它们已经开始从利基产品过渡到具有主流吸引力的产品[]。可从公司网站和亚马逊等主要零售商处在线购买的DTC-GT的兴趣在不断增加。实际上，由23andMe出售的DTC-GT套件是2017年亚马逊黑色星期五销售的五大畅销书之一[]。自2017年以来，提供血统结果的DTC-GT套件数量翻了一番，售出了1200万套件。尽管对DTC-GT试剂盒的兴趣和使用日益增长，但只有10-20％的DTC-GT客户与基层医疗医生共享了他们的基因检测结果[，]。先前的研究表明，与普通美国公民相比，DTC-GTs的典型消费者既受过较高的教育水平，又有较高的报酬。随着这些测试的消费者不断从业余爱好者转移到普通大众，很有可能会有更多的个人请求帮助解释其结果。先前的研究表明，医生对于向患者进行基因检测结果的教育感到准备不足[–]。目前，与遗传专家相比，在初级保健提供者如何准确地向患者解释和传达基因检测结果方面存在知识差距。以前有一些研究集中在初级保健提供者和遗传学[–]上，但是我们的研究是新颖的，因为它对更大的一组遗传专家（= 165）和非遗传提供者（= 99）进行了采样。与以前的研究相比，这使我们能够提供更健壮的方法来衡量遗传专家与非遗传专家之间的解释差异。在全球范围内，来自澳大利亚，德国，美国和其他地区的患者已表示愿意对DTC-GT进行某种形式的调节，并希望医生在解释此类数据时提供帮助[–]。购买DTC-GT是供某人选择加入的可选过程，将基因组数据输入患者记录后，设备便会选择退出。我们正在经历一段时期，在此期间，遇到患者带来DTC-GT报告的医生将转向其所有患者EHR中大部分都出现的基因组结果，这在一定程度上要归功于Precision Medicine Initiative等项目。临床测序探索研究协会（CSER）[C]和电子病历与基因组学（eMERGE）网络等研究已经致力于将基因组医学整合到临床护理中已有数年了。自2007年推出以来，eMERGE一直将EHR和基因组学相结合以改善发现和患者护理。现在，eMERGE正在其第三轮融资中，产生可临床应用的结果，以返回EHR []。CSER遗传咨询工作组（GC WG）于2012年成立，致力于协助遗传咨询师应对基因组学方面的挑战医学（基因组教育，结果披露和其他问题）[]。随着关于这些问题的工作的进行，将临床基因检测和DTC-GT分开的界限变得越来越难以定义[]。认识到将基因组数据集成到EHR中的当前和未来需求，两家最大的EHR供应商Epic和Cerner最近使他们的系统能够在患者病历中存储结构化的基因组数据[，]。

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