高風險婦女並未轉診進行癌症基因諮商


  【24drs.com】根據線上發表於7月25日癌症(Cancer)期刊的研究,對於一般風險的婦女,醫師會依循建議為其中的71%評估BRCA1和BRCA2乳癌基因突變風險,但是,對於高風險婦女則只有41%。
  
  第一作者、疾病管制中心癌症預防與控制組Katrina F. Trivers博士等人寫道,對於有BRCA1或BRCA2基因突變的婦女,70歲時發生乳癌的累積風險,BRCA1和BRCA2基因者分別是57%和49%,70歲時的卵巢癌風險則分別是40%和18%。
  
  有家族史的婦女被認為可能有其中一種突變,應優先進行基因檢測與諮商;如果檢測陽性,可進行化學預防治療和/或預防性乳房切除術和/或卵巢切除術,能夠減少乳癌風險達95%、卵巢癌風險減少達80%。
  
  美國預防服務工作小組建議,醫師將有家族史的婦女轉診進行基因諮商與評估,基於可能的危害,也建議那些沒有家族史的婦女;美國婦產科學院建議將至少20%-25%有其中一種基因風險者進行轉診;美國醫學基因學院和國家綜合癌症網絡都建議,45歲前診斷有乳癌的病患必須轉診。
  
  為了檢視醫師是否遵守這些指引,研究人員對3,200名家庭醫師、一般內科醫師、婦產科醫師進行了一個假設劇情式研究,回應的有1,878人(62%);這篇調查包括了一個病患年度體檢的情境,每位醫師接獲48種不同劇情之一,差別在於病患年紀、種族、保險狀態與卵巢癌風險。
  
  對於一般風險的婦女,回覆的醫師有71%表示遵守基因諮商或檢測的建議,這些案例的順從預測因子包括:黑人種族(相對風險[RR]為1.16;95%信心區間[CI]為1.03 - 1.31)且Medicaid相較於私人保險之RR為1.15(95% CI,1.02 - 1.29)。
  
  對於高風險婦女,回覆者有41%表示遵守建議;高風險婦女的順從預測因子包括病患年紀較輕(35 vs 51歲;RR,1.78;95% CI,1.41 - 2.24)、醫師性別(女性vs男性之RR為1.30;95% CI,1.07 - 1.64),婦產科vs家庭醫學科之RR為1.64(95% CI為1.31 - 2.05)。
  
  高風險婦女之正確辨識是諮商與檢測轉診的強力預測因子,確認為高風險婦女之醫師進行轉診的機率是將高風險婦女認為是一般風險之醫師的8.46倍(95% CI,2.39 - 30.03);作者們寫道,需致力於鼓勵遺傳性乳癌和卵巢癌高風險婦女進行適當的諮商及基因檢查,特別是男性醫師、家庭醫師和一般內科,一般風險婦女則無須鼓勵轉診和檢測。
  
  資料來源:http://www.24drs.com/professional/list/content.asp?x_idno=6581&x_classno=0&x_chkdelpoint=Y
  

High-Risk Women Not Referred for Genetic Cancer Counseling

By Jim Kling
Medscape Medical News

July 25, 2011 — Physicians followed recommendations for breast cancer susceptibility 1 and 2 (BRCA1 and BRCA2) gene mutations in 71% of women of average risk, but only 41% of women at high risk, according to a study published online July 25 in Cancer.

For women who carry the BRCA1 or BRCA2 gene mutations, the cumulative risk of developing breast cancer by age 70 years is 57% for BRCA1 carriers and 49% for BRCA2 carriers. Ovarian cancer risks by age 70 years are 40% and 18%, respectively, write lead author Katrina F. Trivers, PhD, MSPH, from the Division of Cancer Prevention and Control, Centers for Disease Control and Prevention, Atlanta, Georgia, and colleagues.

Women whose family history suggests they may carry one of the mutations are prime candidates for genetic testing and counseling. If they test positive, they may opt for chemoprevention and/or prophylactic mastectomy and/or oophorectomy to reduce breast cancer risk by 95% and ovarian cancer risk by 80%.

The United States Preventive Services Task Force recommends that physicians refer women who have suggestive family histories to genetic counseling and evaluation, and recommends against it for women who do not have such family histories because of potential harm. The American College of Obstetrics and Gynecology recommends referral for patients deemed to have at least a 20% to 25% risk of carrying one or the other gene. The American College of Medical Genetics and the National Comprehensive Cancer Network both recommend referral for patients with breast cancer who were diagnosed before age 45 years.

To examine whether physicians follow these guidelines, the researchers conducted a vignette-based study of 3200 family physicians, general internists, and obstetrician/gynecologists, 1878 of whom (62%) responded. The survey included a vignette about a patient's annual exam. Each physician received 1 of 48 different vignettes, with variations in patient age, race, insurance status, and ovarian cancer risk.

For women of average risk, 71% of respondents adhered to recommendations against genetic counseling or testing. Predictors of adherence in these cases included black race (relative risk [RR], 1.16; 95% confidence interval [CI], 1.03 - 1.31) and Medicaid vs private insurance (RR, 1.15; 95% CI, 1.02 - 1.29).

For high-risk women, 41% of respondents adhered to recommendation. Predictors for adherence for high-risk women included 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 vs family medicine specialty (RR, 1.64; 95% CI, 1.31 - 2.05).

Correct identification of high-risk women was a strong predictor of counseling and testing referral. Physicians who identified high-risk women were 8.46 times (95% CI, 2.39 - 30.03) more likely to make a referral than physicians who misidentified high-risk women as average risk.

"Efforts are needed to encourage appropriate counseling and genetic testing for women at high risk of hereditary breast and ovarian cancer, particularly among male physicians, family physicians, and general internists. Simultaneously, efforts to discourage referral and testing among average-risk women should be implemented," the authors write.

The study was supported by the Centers for Disease Control and Prevention through the University of Washington Health Promotion Research Centers Cooperative Agreement and through the Alliance for Reducing Cancer, Northwest, which is funded by both the Centers for Disease Control and Prevention and the National Cancer Institute. The authors have disclosed no relevant financial relationships.

Cancer. Published online July 25, 2011.

    
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