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首页> 外文期刊>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：是否为基因组医学准备的提供商：用医疗专业人员解释直接消费遗传检测（DTC-GT）结果和遗传自我效能

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BACKGROUND:Precision medicine is set to deliver a rich new data set of genomic information. However, the number of certified specialists in the United States is small, with only 4244 genetic counselors and 1302 clinical geneticists. We conducted a national survey of 264 medical professionals to evaluate how they interpret genetic test results, determine their confidence and self-efficacy of interpreting genetic test results with patients, and capture their opinions and experiences with direct-to-consumer genetic tests (DTC-GT).METHODS:Participants were grouped into two categories, genetic specialists (genetic counselors and clinical geneticists) and medical providers (primary care, internists, physicians assistants, advanced nurse practitioners, etc.). The survey (full instrument can be found in the Additional file?1) presented three genetic test report scenarios for interpretation: a genetic risk for diabetes, genomic sequencing for symptoms report implicating a potential HMN7B: distal hereditary motor neuropathy VIIB diagnosis, and a statin-induced myopathy risk. Participants were also asked about their opinions on DTC-GT results and rank their own perceived level of preparedness to review genetic test results with patients.RESULTS:The rates of correctly interpreting results were relatively high (74.4% for the providers compared to the specialist's 83.4%) and age, prior genetic test consultation experience, and level of trust assigned to the reports were associated with higher correct interpretation rates. The self-selected efficacy and the level of preparedness to consult on a patient's genetic results were higher for the specialists than the provider group.CONCLUSION:Specialists remain the best group to assist patients with DTC-GT, however, primary care providers may still provide accurate interpretation of test results when specialists are unavailable.
机译：背景：精确的药物被设置为提供丰富的新数据集。但是，美国认证专家的数量很小，只有4244名遗传辅导员和1302名临床遗传学家。我们对264名医疗专业人员进行了一项国家调查，以评估他们如何解释遗传测试结果，确定他们对患者解释遗传检测结果的信心和自我效能，并捕获他们的意见和经验与直接消费的遗传测试（DTC- gt）。方法：参与者被分为两类，遗传专家（遗传辅导员和临床遗传学家）和医疗提供者（初级保健，内科医生，医师助理，先进的护士从业者等）。调查（全面仪器可以在附加文件中找到？1）呈现出解释的三个遗传测试报告情景：糖尿病的遗传风险，症状的基因组测序暗示潜在的HMN7B：​​远端遗传运动神经病变VIIB诊断和他汀类药物 - 引起的肌病风险。参与者也被问及他们对DTC-GT结果的看法，并对患者进行审查基因检测结果进行评级。结果：正确解释结果的率相对较高（提供者与专家的83.4相比为74.4％ ％）和年龄，先前的遗传测试咨询经验和分配给报告的信任水平与更高的正确解释率相关。专家的自我选择的疗效和咨询的准备程度比提供者组的专家更高。结论：专家仍然是协助DTC-GT患者的最佳组，然而，初级护理提供者仍可提供当专家无法使用时，准确地解释测试结果。

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