美國一項研究顯示,，不少醫(yī)生無法區(qū)分卵巢癌高風(fēng)險人群和普通風(fēng)險人群,，往往建議普通風(fēng)險女性接受昂貴的卵巢癌基因檢測，卻忽視讓高危群體接受必要檢測,。
女性罹患卵巢癌的風(fēng)險相對較小,，平均每71人中1人患病,；相比之下,，患乳腺癌的風(fēng)險較高，平均每8人中1人患病,。但是,，目前缺乏診斷卵巢癌的有效手段，患者確診時往往已是晚期,。
針對這種狀況,，美國疾病控制和預(yù)防中心對將近1900名醫(yī)生發(fā)出調(diào)查問卷，結(jié)果由最新一期《癌癥》雜志發(fā)表,。
路透社8月29日援引調(diào)查結(jié)果報道,，醫(yī)生中大約30%推薦普通風(fēng)險的女性接受卵巢癌基因檢測，而60%沒有推薦高危群體接受檢測,。
受聯(lián)邦政府資助的專家團(tuán)隊“預(yù)防服務(wù)工作組”成員邁克爾·勒費(fèi)夫爾認(rèn)定,，“就識別哪些人有必要接受檢測、哪些人沒有必要接受檢測,，醫(yī)生做得不夠好”,。
至于后果，疾病控制和預(yù)防中心研究人員杰奎琳·米勒說,，一方面是不少女性“接受‘過度檢查’,，耗費(fèi)資源和金錢”，另一方面是原本應(yīng)該接受檢測的高風(fēng)險女性沒能獲得指導(dǎo),。
女性體內(nèi)BRCA1和BRCA2基因變異較易患乳腺癌和卵巢癌,?？偛课挥诿绹}湖城的麥利亞德基因技術(shù)公司檢測這類變異的費(fèi)用是3340美元,，接受檢測的個人需承擔(dān)100美元，其余由公共醫(yī)療系統(tǒng)承擔(dān),。
只是這類變異概率較低,，平均每300人或更多數(shù)量的人群中僅1人可能發(fā)生。
高危群體則有必要接受檢查,，以便及早防治,。例如，出現(xiàn)BRCA1基因變異的女性中57%會在70歲前罹患乳腺癌,，40%會罹患卵巢癌,。及早接受乳房切除手術(shù)和卵巢摘除手術(shù)或接受特定藥物治療有助于降低罹患乳腺癌和卵巢癌的風(fēng)險,。
米勒認(rèn)為，讓普通風(fēng)險的女性群體接受基因變異檢測會不必要地增加醫(yī)保系統(tǒng)的負(fù)擔(dān),。所以,，在醫(yī)生層面，應(yīng)當(dāng)更加注重基因變異的觸發(fā)因素,，更加明晰辨別高危人群和普通風(fēng)險人群,，而后推薦后續(xù)診察。(生物谷 Bioon.com)
doi:10.1002/cncr.26166
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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.
