首页> 外文期刊>American journal of medical genetics, Part A >Genetic assessment of breast cancer risk in primary care practice.
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Genetic assessment of breast cancer risk in primary care practice.

机译:初级保健实践中乳腺癌风险的遗传评估。

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Family history is increasingly important in primary care as a means to detect candidates for genetic testing or tailored prevention programs. We evaluated primary care physicians' skills in assessing family history for breast cancer risk, using unannounced standardized patient (SP) visits to 86 general internists and family medicine practitioners in King County, WA. Transcripts of clinical encounters were coded to determine ascertainment of family history, risk assessment, and clinical follow-up. Physicians in our study collected sufficient family history to assess breast cancer risk in 48% of encounters with an anxious patient at moderate risk, 100% of encounters with a patient who had a strong maternal family history of breast cancer, and 45% of encounters with a patient who had a strong paternal family history of breast and ovarian cancer. Increased risk was usually communicated in terms of recommendations for preventive action. Few physicians referred patients to genetic counseling, few associated ovarian cancer with breast cancer risk, and some incorrectly discounted paternal family history of breast cancer. We conclude that pedigree assessment of breast cancer risk is feasible in primary care, but may occur consistently only when a strong maternal family history is present. Primary care education should focus on the link between inherited breast and ovarian cancer risk and on the significance of paternal family history. Educational efforts may be most successful when they emphasize the value of genetic counseling for individuals at risk for inherited cancer and the connection between genetic risk and specific prevention measures.
机译:家族史在初级保健中越来越重要,它是一种检测候选者进行基因检测或量身定制的预防计划的手段。我们通过对华盛顿州金县的86名普通内科医生和家庭医学从业人员进行了突击性标准化患者(SP)访问,评估了初级保健医生评估家族史中患乳腺癌风险的技能。将临床遭遇的笔录进行编码,以确定家族史的确定,风险评估和临床随访。本研究中的医生收集了足够的家族史,以评估48%的中度焦虑患者,100%的母性家族史较强的患者以及45%的乳腺癌患者。具有强烈的乳腺癌和卵巢癌父系家族病史的患者。通常根据预防措施的建议传达增加的风险。很少有医生将患者转介给遗传咨询,很少有卵巢癌并发乳腺癌的风险,以及一些不正确地估计了父亲的乳腺癌家族史。我们得出结论,对乳腺癌风险进行系谱评估在初级保健中是可行的,但只有在有强大的母亲家族史的情况下才可能一致地进行。初级保健教育应侧重于遗传性乳腺癌和卵巢癌风险之间的联系以及父系家族史的重要性。当教育工作强调遗传咨询对处于遗传性癌症风险中的个体的价值以及遗传风险与具体预防措施之间的联系时,可能是最成功的。

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