Gronwald Jacek, Huzarski Tomasz, Byrski Tomasz, Debniak Tadeusz, Metcalfe Kelly, Narod Steven A, Lubiński Jan
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, ul. Polabska 4, 70-115, Szczecin, Poland.
Breast Cancer Res Treat. 2006 Dec;100(3):239-45. doi: 10.1007/s10549-006-9261-5. Epub 2006 Jun 29.
Ideally, a genetic screening program for cancer should offer testing to all women who qualify, and who wish to participate, and who might benefit from the test. As the number of preventive options for women at high risk for hereditary breast cancer expands, the demand for testing increases. However, many women do not have ready access to testing because of cost, and many others have not been recognized by their physicians to be candidates for testing. It is possible to increase women's awareness about hereditary cancer through the popular press. Genetic testing was offered to 5000 Polish women through an announcement placed in a popular women's magazine (Twoj Styl) in October 2001. A total of 5024 women who qualified received a free genetic test for three mutations in BRCA1 which are common in Poland. Out of these, 198 women (3.9%) were found to carry a BRCA1 mutation. The overall cost per mutation detected was 630 US dollars--approximately 50-100 times less than the equivalent cost in North America. Genetic counseling was offered to women with a positive test or with a significant family history of breast or ovarian cancer. The great majority of women who took part in the program expressed a high degree of satisfaction and after one year approximately two-thirds of identified mutation carriers had complied with our recommendations for breast cancer screening. We found this model of genetic testing and delivery of genetic information to be very efficient in a population in which founder mutations predominate. There is a need for similar studies in other populations.
理想情况下，癌症基因筛查项目应向所有符合条件、希望参与且可能从检测中受益的女性提供检测。随着针对遗传性乳腺癌高危女性的预防选择数量增加，检测需求也在上升。然而，许多女性因费用问题无法及时获得检测，还有许多女性未被医生认定为检测对象。通过大众媒体可以提高女性对遗传性癌症的认识。2001年10月，通过在一本流行的女性杂志（《你的风格》）上刊登广告，为5000名波兰女性提供了基因检测。共有5024名符合条件的女性接受了针对波兰常见的BRCA1基因三种突变的免费基因检测。其中，198名女性（3.9%）被发现携带BRCA1基因突变。检测出每个突变的总体成本为630美元，约为北美同等成本的50至100分之一。为检测结果呈阳性或有乳腺癌或卵巢癌家族病史的女性提供了遗传咨询。参与该项目的绝大多数女性表示高度满意，一年后，约三分之二已确定的突变携带者遵循了我们关于乳腺癌筛查的建议。我们发现，在奠基者突变占主导的人群中，这种基因检测和遗传信息传递模式非常有效。其他人群也需要进行类似的研究。
