This nationwide study assessed the impact of nationally agreed cancer genetics guidelines on use of BRCA1/2 germline testing, risk management advice given by health professionals to women with pathogenic BRCA1/2 variants and uptake of such advice by patients. Clinic files of 883 women who had initial proband screens for BRCA1/2 pathogenic variants at 12 familial cancer clinics between July 2008–July 2009 (i.e. before guideline release), July 2010–July 2011 and July 2012–July 2013 (both after guideline release) were audited to determine reason given for genetic testing. Separately, the clinic files of 599 female carriers without a personal history of breast/ovarian cancer who underwent BRCA1/2 predictive genetic testing and received their results pre- and post-guideline were audited to ascertain the risk management advice given by health professionals. Carriers included in this audit were invited to participate in a telephone interview to assess uptake of advice, and 329 agreed to participate. There were no significant changes in the percentages of tested patients meeting at least one published indication for genetic testing - 79, 77 and 78% of files met criteria before guideline, and two-, and four-years post-guideline, respectively (χ = 0.25, p = 0.88). Rates of documentation of post-test risk management advice as per guidelines increased significantly from pre- to post-guideline for 6/9 risk management strategies. The strategies with the highest compliance amongst carriers or awareness post-release of guidelines were annual magnetic resonance imaging plus mammography in women 30–50 years (97%) and annual mammography in women > 50 years (92%). Of women aged over 40 years, 41% had a risk-reducing bilateral mastectomy. Amongst women aged > 40 years, 75% had a risk-reducing salpingo-oophorectomy. Amongst women who had not had a risk-reducing bilateral mastectomy, only 6% took risk-reducing medication. Fear of side-effects was cited as the main reasons for not taking these medicines by 73% of women. Guidelines did not change the percentages of tested patients meeting genetic testing criteria but improved documentation of risk management advice by health professionals. Effective approaches to enhance compliance with guidelines are needed to improve risk management and quality of care.

中文翻译：

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国家准则对使用BRCA1 / 2种系测试的影响，向具有致病性BRCA1 / 2变体的女性提供的风险管理建议以及建议的采纳

这项全国性研究评估了国家认可的癌症遗传学指南对BRCA1 / 2种系测试的使用，卫生专业人员对具有致病性BRCA1 / 2变体的女性提供的风险管理建议以及患者对此类建议的接受程度。在2008年7月至2009年7月（即指南发布之前），2010年7月至2011年7月以及2012年7月至2013年7月之间（均在指南发布之后），在12家家族癌症诊所进行了先证者筛查BRCA1 / 2致病变异的883名妇女的临床档案进行了审核，以确定进行基因检测的原因。分别地，对599例无乳腺癌/卵巢癌个人病史的女性携带者的临床档案进行了BRCA1 / 2预测性基因检测，并在指导前和指导后均接受了其结果的审核，以确定卫生专业人员的风险管理建议。邀请了该审核中的运营商参加电话访问，以评估他们对建议的接受程度，其中329家同意参与。满足至少一项已公布的遗传学指征的受试患者百分比没有显着变化-分别有79％，77％和78％的文件符合指南之前的标准以及指南后两年和四年的标准（χ= 0.25，P = 0.88）。根据指南，测试后风险管理建议的文件记录率从6/9风险管理策略的指南前到指南后显着增加。在携带者中或在指南发布后意识增强的患者中，依从性最高的策略是：30至50岁女性的年度磁共振成像和X线摄影（97％）和50岁以上女性的年度X线摄影（92％）。在40岁以上的女性中，有41％的女性可以降低双侧乳房切除术的风险。在年龄大于40岁的女性中，有75％的妇女进行了输卵管卵巢切除术，具有降低风险的作用。在没有降低风险的双侧乳房切除术的女性中，只有6％的人服用了降低风险的药物。73％的女性认为对副作用的恐惧是不服用这些药物的主要原因。指南并未改变符合基因测试标准的被测患者的百分比，但改善了卫生专业人员对风险管理建议的记录。