Health-Care Referrals from Direct-to-Consumer Genetic Testing
Health-Care Referrals from Direct-to-Consumer Genetic Testing
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DOI：
10.1089/gtmb.2010.0051
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发表时间：
2010-12-01
影响因子：
1.4
通讯作者：
Murray, Michael F.
中科院分区：
文献类型：
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作者：
Giovanni, Monica A.;Fickie, Matthew R.;Murray, Michael F.
背景：直接面向消费者的基因检测（DTC-GT）直接向消费者提供个性化的遗传风险信息。对于消费者如何以及为什么将检测结果告知医疗保健专业人员，人们知之甚少。目的：向临床遗传学专家询问他们在DTC-GT后咨询他们的个人的经验。方法：向三组不同的遗传专业人员发出问卷邀请，共4047份，询问DTC-GT后咨询他们的个人。对于每个报告的病例，受访者被要求描述该病例是如何转介给他们的，患者进行DTC-GT的理由，以及DTC-GT的类型。答复者还被问及就所订购的额外检测而言，磋商的后果。对每次咨询的费用进行了估计。根据临床医生的反应汇编了一个临床病例系列。结果：邀请得到133份回复，描述了22例DTC-GT后的临床相互作用。大多数咨询（59.1%）是自我推荐给遗传学专业人员，但31.8%是医生推荐的。在受访者中，52.3%的人认为DTC-GT是“临床有用的”。“85.7%的病例认为BRCA1/2检测在临床上有用；35.7%的其他检查被认为是临床有用的。随后从遗传学专家那里转到专家那里和/或进行额外的诊断测试是很常见的，产生的个人下游费用估计在40美元到20,600美元之间。结论：这个临床病例系列表明，大约一半的临床遗传学家在看到DTC-GT患者后判断检测在临床上是有用的，尤其是BRCA1/2检测。需要在更大和更多样化的人群中进行进一步的研究，以更好地了解DTC-GT与卫生保健系统之间的相互作用。
Background: Direct-to-consumer genetic testing (DTC-GT) provides personalized genetic risk information directly to consumers. Little is known about how and why consumers then communicate the results of this testing to health-care professionals. Aim: To query specialists in clinical genetics about their experience with individuals who consulted them after DTC-GT. Methods: Invitations to participate in a questionnaire were sent to three different groups of genetic professionals, totaling 4047 invitations, asking questions about individuals who consulted them after DTC-GT. For each case reported, respondents were asked to describe how the case was referred to them, the patient's rationale for DTC-GT, and the type of DTC-GT performed. Respondents were also queried about the consequences of the consultations in terms of additional testing ordered. The costs associated with each consultation were estimated. A clinical case series was compiled based upon clinician responses. Results: The invitation resulted in 133 responses describing 22 cases of clinical interactions following DTC-GT. Most consultations (59.1%) were self-referred to genetics professionals, but 31.8% were physician referred. Among respondents, 52.3% deemed the DTC-GT to be "clinically useful.'' BRCA1/2 testing was considered clinically useful in 85.7% of cases; 35.7% of other tests were considered clinically useful. Subsequent referrals from genetics professionals to specialists and/or additional diagnostic testing were common, generating individual downstream costs estimated to range from $40 to $20,600. Conclusions: This clinical case series suggests that approximately half of clinical geneticists who saw patients after DTC-GT judged that testing was clinically useful, especially the BRCA1/2 testing. Further studies are needed in larger and more diverse populations to better understand the interactions between DTC-GT and the health-care system.