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Genetic testing and cancer risk management recommendations by physicians for at-risk relatives.

机译：医生针对高危亲属的基因检测和癌症风险管理建议。

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PURPOSE: Sequence-based cancer susceptibility testing results are described as negative, deleterious mutation or variant of uncertain significance. We studied the impact of different types of test results on clinical decision making. METHODS: Practicing physicians from five specialties in Texas completed an online case-based survey (n = 225). Respondents were asked to make genetic testing and management recommendations for healthy at-risk relatives of patients with cancer. RESULTS: When the patient carried a deleterious BRCA1 mutation or variant of uncertain significance, 98% and 82% of physicians, respectively, recommended testing of at-risk relatives (P < 0.0001). In both situations, comprehensive BRCA1/2 analysis was selected most with a corresponding 9-fold increase in unnecessary genetic testing costs. There was no difference in physicians with (n = 81) or without (n = 144) prior BRCA1/2 testing experience (P = 0.3869). Cancer risk management recommendations were most intense for the relative with a deleterious mutation compared with variant of uncertain significance, negative, or no testing with 63%, 13%, 5%, and 2%, respectively, recommending oophorectomy (P < 0.0001). CONCLUSIONS: Independent of experience, or specialty, physicians chose more comprehensive testing for healthy relatives than current guidelines recommend. In contrast, management decisions demonstrated the uncertainty associated with a variant of uncertain significance. Utilization of genetic professionals and education of physicians on family-centered genetic testing may improve efficacy and substantially reduce costs.
机译：目的：基于序列的癌症易感性测试结果被描述为阴性，有害突变或不确定意义的变异。我们研究了不同类型的测试结果对临床决策的影响。方法：得克萨斯州五个专业的执业医师完成了一项基于案例的在线调查（n = 225）。要求受访者为癌症患者的健康高危亲属提供基因检测和管理建议。结果：当患者携带有害的BRCA1突变或不确定性的变异体时，分别建议98％和82％的医生对有风险的亲属进行检测（P <0.0001）。在这两种情况下，大多数情况下都选择了全面的BRCA1 / 2分析，而不必要的基因检测费用则相应增加了9倍。有（n = 81）有或没有（n = 144）以前的BRCA1 / 2测试经验的医生没有差异（P = 0.3869）。与具有有害显着性的变体相比，对于具有有害突变的亲属，癌症风险管理建议最为强烈，建议分别进行卵巢切除术（P <0.0001），阴性或阴性测试分别为63％，13％，5％和2％。结论：独立于经验或专长，医生为健康亲属选择了比当前指南建议更全面的测试。相反，管理决策表明不确定性与不确定性意义的变体有关。利用遗传专业人员和医生进行以家庭为中心的基因检测教育可以提高疗效，并大大降低成本。

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