Raphael Jacques, Verma Sunil, Hewitt Paul, Eisen Andrea
Medical Oncology Department, Breast site, Sunnybrook Odette Cancer Centre, 2075 Bayview Avenue, Toronto, ON, M4N 3M5, Canada.
Cancer Genetics and High Risk Program, Sunnybrook Health Sciences Centre, Toronto, Canada.
J Genet Couns. 2016 Dec;25(6):1309-1316. doi: 10.1007/s10897-016-9973-6. Epub 2016 May 26.
In May 2013, Angelina Jolie revealed to the media that she had undergone preventive double mastectomy after testing positive for a BRCA1 gene mutation. Media coverage has been extensive, but it is not clear how such a personal story affected the public and cancer genetics clinics. We conducted a retrospective review using data from the clinical database of the Familial Cancer Program at our centre. The impact of Ms. Jolie's story on genetic counseling referrals and the appropriateness of such referrals were assessed and reported. The number of women referred for genetic counseling increased by 90 % after 6 months and remained high one year after AJ's story with an increase of 88 % from baseline. The number of women who qualified for genetic testing increased by 105 % after 6 months; this increase persisted but was somewhat lower after one year with an increase of 68 % from baseline. Furthermore the number of BRCA1/2 carriers identified increased by 110 % after 6 months and by 42 % after one year.The effect of Mrs. Jolie's story persisted one year after its release; however in the latter half of the year, the hereditary cancer risk of referred women was significantly lower than initially observed. The next challenge for our health care system will not only be to meet the increased demand for cancer genetic services in our region, but also to ensure that referrals and hence use of genetic counseling resources are appropriate.
2013年5月,安吉丽娜·朱莉向媒体透露,她在检测出BRCA1基因突变呈阳性后接受了预防性双侧乳房切除术。媒体对此进行了广泛报道,但尚不清楚这样一个个人故事对公众和癌症遗传学诊所产生了怎样的影响。我们利用本中心家族性癌症项目临床数据库的数据进行了一项回顾性研究。评估并报告了朱莉女士的故事对遗传咨询转诊的影响以及此类转诊的适宜性。在6个月后,转诊接受遗传咨询的女性人数增加了90%,在朱莉的故事曝光一年后仍居高不下,较基线水平增加了88%。6个月后,符合基因检测条件的女性人数增加了105%;这种增长持续存在,但一年后有所下降,较基线水平增加了68%。此外,6个月后,检测出的BRCA1/2基因携带者人数增加了110%,一年后增加了42%。朱莉女士的故事发布一年后其影响依然存在;然而在这一年的下半年,转诊女性的遗传性癌症风险明显低于最初观察到的情况。我们的医疗保健系统面临的下一个挑战不仅是要满足本地区对癌症遗传服务日益增长的需求,还要确保转诊以及因此对遗传咨询资源的利用是恰当的。