Hartenbach Ellen M, Becker Joanne M, Grosen Elizabeth A, Bailey Howard H, Petereit Daniel G, Laxova Renata, Schink Julian C
University of Wisconsin Comprehensive Cancer Center, Gynecologic Oncology Program, madison 53792, USA.
Genet Test. 2002 Summer;6(2):75-8. doi: 10.1089/10906570260199311.
BRCA1 and BRCA2 mutation carriers have an increased risk of developing breast and/or ovarian cancer. Technical advances in genetic testing have increased the need for genetic counseling services; therefore, we have developed a counseling program for these individuals. The purpose of this study is to characterize this population, assess level of interest in genetic testing, and evaluate our program over a 5-year period. Our Familial Cancer Genetic Counseling Program was established in November, 1994. Information was collected prospectively, with comprehensive evaluation including complete pedigree, risk assessment, and counseling by a genetic counselor, geneticist, and oncologist. Data were collected on risk level, and subsequent recommendations for screening and/or genetic testing. There were 824 contacts recorded from November, 1994, through August, 1999. To date, 162 families have undergone comprehensive genetic evaluation and counseling. 90 (56%) were seen for a concerning family history and 72 (44%) were seen due to a personal history of malignancy. The majority of families had a significant level of risk with 126 (78%) families having two and 70 (43%) families having three affected first-degree relatives. Of the 162 families who received full counseling, 125 (77%) met criteria to recommend BRCA1/BRCA2 genetic testing. At this time, 30 of the 162 (18%) have had genetic testing. A brief phone contact or clinic visit is useful to screen individuals so that counseling can be directed toward truly high-risk families. In our program, the majority of families counseled were eligible for BRCA1/BRCA2 testing, but only 18% have elected to proceed at this time.
携带BRCA1和BRCA2基因突变的人患乳腺癌和/或卵巢癌的风险会增加。基因检测技术的进步增加了对遗传咨询服务的需求；因此，我们为这些人制定了一项咨询计划。本研究的目的是描述这一人群的特征，评估他们对基因检测的兴趣程度，并在5年期间对我们的计划进行评估。我们的家族性癌症遗传咨询计划于1994年11月设立。前瞻性地收集信息，进行全面评估，包括完整的家系图、风险评估，以及由遗传咨询师、遗传学家和肿瘤学家提供的咨询。收集了有关风险水平的数据，以及随后关于筛查和/或基因检测的建议。从1994年11月到1999年8月共记录了824次咨询。到目前为止，已有162个家庭接受了全面的基因评估和咨询。其中90个家庭（56%）因家族病史令人担忧而来咨询，72个家庭（44%）因个人恶性肿瘤病史而来咨询。大多数家庭有较高的风险水平，126个家庭（78%）有两名一级亲属患病，70个家庭（43%）有三名一级亲属患病。在接受全面咨询的162个家庭中，125个家庭（77%）符合推荐进行BRCA1/BRCA2基因检测的标准。目前，162个家庭中有30个（18%）进行了基因检测。通过简短的电话联系或门诊就诊来筛查个体是有用的，这样咨询就可以针对真正的高风险家庭。在我们的计划中，大多数接受咨询的家庭都符合BRCA1/BRCA2检测的条件，但目前只有18%的家庭选择进行检测。
