美国一项研究显示，不少医生无法区分卵巢癌高风险人群和普通风险人群，往往建议普通风险女性接受昂贵的卵巢癌基因检测，却忽视让高危群体接受必要检测。
女性罹患卵巢癌的风险相对较小，平均每71人中1人患病；相比之下，患乳腺癌的风险较高，平均每8人中1人患病。但是，目前缺乏诊断卵巢癌的有效手段，患者确诊时往往已是晚期。
针对这种状况，美国疾病控制和预防中心对将近1900名医生发出调查问卷，结果由最新一期《癌症》杂志发表。
路透社8月29日援引调查结果报道，医生中大约30%推荐普通风险的女性接受卵巢癌基因检测，而60%没有推荐高危群体接受检测。
受联邦政府资助的专家团队“预防服务工作组”成员迈克尔·勒费夫尔认定，“就识别哪些人有必要接受检测、哪些人没有必要接受检测，医生做得不够好”。
至于后果，疾病控制和预防中心研究人员杰奎琳·米勒说，一方面是不少女性“接受‘过度检查’，耗费资源和金钱”，另一方面是原本应该接受检测的高风险女性没能获得指导。
女性体内BRCA1和BRCA2基因变异较易患乳腺癌和卵巢癌。总部位于美国盐湖城的麦利亚德基因技术公司检测这类变异的费用是3340美元，接受检测的个人需承担100美元，其余由公共医疗系统承担。
只是这类变异概率较低，平均每300人或更多数量的人群中仅1人可能发生。
高危群体则有必要接受检查，以便及早防治。例如，出现BRCA1基因变异的女性中57%会在70岁前罹患乳腺癌，40%会罹患卵巢癌。及早接受乳房切除手术和卵巢摘除手术或接受特定药物治疗有助于降低罹患乳腺癌和卵巢癌的风险。
米勒认为，让普通风险的女性群体接受基因变异检测会不必要地增加医保系统的负担。所以，在医生层面，应当更加注重基因变异的触发因素，更加明晰辨别高危人群和普通风险人群，而后推荐后续诊察。(生物谷 Bioon.com)
doi:10.1002/cncr.26166
PMC:
PMID:
Reported referral for genetic counseling or BRCA 1/2 testing among United States physicians
Abstract
BACKGROUND:
Genetic counseling and testing is recommended for women at high but not average risk of ovarian cancer. National estimates of physician adherence to genetic counseling and testing recommendations are lacking.
METHODS:
Using a vignette-based study, we surveyed 3200 United States family physicians, general internists, and obstetrician/gynecologists and received 1878 (62%) responses. The questionnaire included an annual examination vignette asking about genetic counseling and testing. The vignette varied patient age, race, insurance status, and ovarian cancer risk. Estimates of physician adherence to genetic counseling and testing recommendations were weighted to the United States primary care physician population. Multivariable logistic regression identified independent patient and physician predictors of adherence.
RESULTS:
For average-risk women, 71% of physicians self-reported adhering to recommendations against genetic counseling or testing. In multivariable modeling, predictors of adherence against referral/testing included black versus white race (relative risk [RR], 1.16; 95% confidence interval [CI], 1.03-1.31), Medicaid versus private insurance (RR, 1.15; 95% CI, 1.02-1.29), and rural versus urban location. Among high-risk women, 41% of physicians self-reported adhering to recommendations to refer for genetic counseling or testing. Predictors of adherence for referral/testing were younger patient age [35 vs 51 years [RR, 1.78; 95% CI, 1.41-2.24]), physician sex (female vs male [RR, 1.30; 95% CI, 1.07-1.64]), and obstetrician/gynecologist versus family medicine specialty (RR, 1.64; 95% CI, 1.31-2.05). For both average-risk and high-risk women, physician-estimated ovarian cancer risk was the most powerful predictor of recommendation adherence.
CONCLUSION:
Physicians reported that they would refer many average-risk women and would not refer many high-risk women for genetic counseling/testing. Intervention efforts, including promotion of accurate risk assessment, are needed. Cancer 2011;. ? 2011 American Cancer Society.
