White Della Brown, Bonham Vence L, Jenkins Jean, Stevens Nancy, McBride Colleen M
Social and Behavioral Research Branch, National Human Genome Research Institute, NIH, 31 Center Drive, Building 31, Room B1B54G, Bethesda, MD 20892-2073, USA.
Cancer Epidemiol Biomarkers Prev. 2008 Nov;17(11):2980-6. doi: 10.1158/1055-9965.EPI-07-2879.
The increasing availability and public awareness of BRCA1/2 genetic testing will increase women's self-referrals to genetic services. The objective of this study was to examine whether patient characteristics influence the referral decisions of family physicians when a patient requests BRCA1/2 genetic testing. Family physicians (n = 284) completed a Web-based survey in 2006 to assess their attitudes and practices related to the use of genetics in their clinical practice. Using a 2 x 2 x 2 factorial design, we tested the effects of a hypothetical patient's race, level of worry, and insurance status on the decisions of family physicians to refer her for BRCA1/2 testing. The patient was not appropriate for referral based on U.S. Preventive Services Task Force guidelines. No patient characteristics were associated with the family physicians' referral decisions. Although referral was not indicated, only 8% did not refer to genetic services; 92% referred for genetic services, and 50% referred to genetic counseling. Family physicians regarded it unlikely that the patient carried a mutation, but 65% of family physicians believed that if they refused to refer for genetic services it would harm their relationship with the patient. Despite scarce and costly genetic services, family physicians were likely to inappropriately refer a low-risk patient who requested BRCA1/2 testing. The implications of this inappropriate referral on women's screening behavior, genetic services, and health care costs are unknown. Clinicians and patients could benefit from education about the appropriate use of genetic services so that both are more comfortable with a decision against referral.
BRCA1/2基因检测的可及性不断提高，公众对此的认知也不断增强，这将使更多女性自行前往寻求基因检测服务。本研究的目的是探讨当患者要求进行BRCA1/2基因检测时，患者特征是否会影响家庭医生的转诊决策。2006年，284名家庭医生完成了一项基于网络的调查，以评估他们在临床实践中使用遗传学的态度和做法。我们采用2×2×2析因设计，测试了假设患者的种族、担忧程度和保险状况对家庭医生决定将其转诊进行BRCA1/2检测的影响。根据美国预防服务工作组的指南，该患者并不适合转诊。没有任何患者特征与家庭医生的转诊决策相关。尽管不建议转诊，但只有8%的医生没有将患者转介至基因检测服务；92%的医生进行了转介，其中50%的医生转介患者接受遗传咨询。家庭医生认为该患者携带突变的可能性不大，但65%的家庭医生认为，如果他们拒绝转介患者接受基因检测服务，会损害他们与患者的关系。尽管基因检测服务稀缺且费用高昂，但家庭医生仍可能不适当地将要求进行BRCA1/2检测的低风险患者转介出去。这种不适当转诊对女性筛查行为、基因检测服务和医疗保健成本的影响尚不清楚。临床医生和患者都可以从关于基因检测服务合理使用的教育中受益，这样双方对于不转诊的决定都会更加安心。
