主治医生（PCPs）通常会处理涉及患者基因的问题。这是一个挑战，因为大多数主治医生在遗传测试方面与遗传辅导师相比缺乏专业知识。目前，推荐的最佳实践是根据有关家族癌症史的问卷向患者推荐基因测试，并咨询遗传辅导师讨论其结果和任何可能的影响。然而，主治医生在使用这些问卷进行此目的方面的程度目前尚不清楚。在这个横断面研究中，将美国癌症学会推荐的七个家族史问题呈现给主治医生，以确定每个问题作为转诊遗传学专家的指标的百分比。在全国初级保健审查会议上，有260名主治医生中的88名完成了问卷调查。主要结果是将每个问题视为进行基因测试的指标的主治医生的百分比。次要结果包括与实践年限、遗传学培训和获取患者家族史的方法的相关性。只有两个问题被大多数主治医生视为指标（范围为76-83%）。剩下的五个问题的百分比较低（范围为22-55%）。实践年限不影响被确定的指标数量（Spearman相关系数测试：r = 0.05，p = 0.68）。很少有主治医生（3.4%）认为自己在住院期间接受过良好到优秀的遗传学培训。只有44.3%的主治医生有遗传学专家可供转诊。总的来说，只有极少数主治医生认为美国癌症学会的问题是进行遗传测试转诊的指标。此外，许多主治医生没有遗传学专家或遗传辅导师可供转诊。解决这些问题可能有助于主治医生了解基因测试的基本知识，并使用标准化问卷将患者转诊给遗传学专家，从而减少不必要的转诊，并提高那些真正需要的人们对这个宝贵资源的预约访问机会。©2023国家遗传咨询协会。

Primary care physicians (PCPs) are commonly approached with concerns involving patient genetics. This is a challenge because most PCPs lack expertise in genetic testing compared to their genetic counselor counterparts. Currently, the recommended best practice is to refer patients for genetic testing based on cancer-related family history questionnaires with a genetic counseling referral to discuss their results and any implications. However, the extent to which PCPs are using these questionnaires for this purpose remains poorly understood. In this cross-sectional study, PCPs were presented with the American Cancer Society's seven recommended family history questions to determine the percentage who consider each to be an indicator for referral to a genetics specialist. Questionnaires were completed by 88 of 260 attending PCPs at a national primary care review conference. The main outcome was the percentage of PCPs who identified each question as a trigger for genetic testing. Secondary outcomes included correlations with years of practice, genetics training, and methods used to obtain patient family history. Only two of the seven questions were considered triggers by most PCPs (range, 76-83%). The remaining five had lower percentages (range, 22-55%). Years of practice did not influence the number of triggers identified (Spearman correlation coefficient test: r = 0.05, p = 0.68). Few PCPs (3.4%) felt they had good to excellent genetics training during residency. Only 44.3% had genetics specialists available for referral. Overall, low percentages of PCPs consider the American Cancer Society questions to be triggers for genetic testing referrals. Furthermore, many do not have a genetics specialist or counselor available for referral. Addressing these concerns may help PCPs understand the basics of genetic testing and use standardized questionnaires to make appropriate referrals to genetic specialists, thereby reducing inappropriate referrals and improving appointment access to this precious resource for those who truly need it.© 2023 National Society of Genetic Counselors.