Giovanni Monica A, Fickie Matthew R, Lehmann Lisa S, Green Robert C, Meckley Lisa M, Veenstra David, Murray Michael F
Division of Genetics, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
Genet Test Mol Biomarkers. 2010 Dec;14(6):817-9. doi: 10.1089/gtmb.2010.0051. Epub 2010 Oct 28.
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.
to query specialists in clinical genetics about their experience with individuals who consulted them after DTC-GT.
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.
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.
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.
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基因风险信息。对于消费者随后如何以及为何将检测结果告知医疗保健专业人员，我们知之甚少。
向临床遗传学专家询问他们与接受DTC-GT后前来咨询的个体的相关经历。
向三组不同的基因专业人员发出了共4047份参与问卷调查的邀请，询问有关接受DTC-GT后前来咨询的个体的问题。对于每例报告的病例，要求受访者描述病例是如何转诊给他们的、患者进行DTC-GT的理由以及所进行的DTC-GT类型。还询问了受访者关于因进一步检测而进行的咨询的后果。估算了每次咨询的相关费用。根据临床医生的回复汇编了一个临床病例系列。
该邀请共收到133份回复，描述了22例DTC-GT后的临床互动病例。大多数咨询（59.1%）是患者自行转诊给基因专业人员，但31.8%是由医生转诊。在受访者中，52.3%认为DTC-GT“在临床上有用”。85.7%的病例中BRCA1/2检测被认为在临床上有用；35.7%的其他检测被认为在临床上有用。基因专业人员随后转诊给专科医生和/或进行额外诊断检测的情况很常见，产生的个体下游成本估计从40美元到20600美元不等。
这个临床病例系列表明，大约一半在DTC-GT后接待患者的临床遗传学家认为检测在临床上有用，尤其是BRCA1/2检测。需要在更大且更多样化的人群中进行进一步研究，以更好地了解DTC-GT与医疗保健系统之间的相互作用。
