Struewing J P, Lerman C, Kase R G, Giambarresi T R, Tucker M A
Genetic Epidemiology Branch, National Cancer Institute, Bethesda, Maryland 20892, USA.
Cancer Epidemiol Biomarkers Prev. 1995 Mar;4(2):169-73.
In anticipation of the identification of the BRCA1 gene, we studied the interest in and anticipated reaction to DNA testing for mutations in this gene in members of high-risk families. We surveyed 91 female and 49 male subjects using a structured interview by study nurses. All subjects were members of inherited breast-ovarian cancer families participating in a genetic linkage study at the National Cancer Institute. The main outcomes of the study were interest in genetic testing and anticipated impact of test results. Seventy nine % of subjects indicated that they would "definitely" want to be tested, and 16% would "probably" want to be tested for mutations in the BRCA1 gene. Subjects with a high self-perceived risk of having an altered BRCA1 gene were more likely to definitely want testing (P = 0.02), while estimated true genetic risk did not predict interest in the test. Females were significantly more likely to definitely want testing (P = 0.005) and had a significantly greater mean anticipated negative-impact score (2.3) compared to males (1.0) (P < 0.001). We found a high level of interest in genetic testing for BRCA1 among members of inherited breast-ovarian cancer families participating in a genetic linkage study. While utilization may fall below levels of interest reported in this and other preliminary surveys, given the potential for early detection and treatment of breast and ovarian cancer, interest in BRCA1 testing may translate into high rates of uptake. These results indicate that it will be critical to incorporate follow-up counseling and support into BRCA1 testing programs.
在预期BRCA1基因被鉴定出来之前，我们研究了高危家族成员对该基因进行突变DNA检测的兴趣以及预期反应。我们通过研究护士进行的结构化访谈，对91名女性和49名男性受试者进行了调查。所有受试者都是参与美国国立癌症研究所一项基因连锁研究的遗传性乳腺癌-卵巢癌家族的成员。该研究的主要结果是对基因检测的兴趣以及检测结果的预期影响。79%的受试者表示他们“肯定”想接受检测，16%的受试者“可能”想接受BRCA1基因突变检测。自我感觉BRCA1基因发生改变风险高的受试者更有可能肯定想接受检测（P = 0.02），而估计的真实遗传风险并不能预测对检测的兴趣。与男性（1.0）相比，女性更有可能肯定想接受检测（P = 0.005），且平均预期负面影响得分（2.3）显著更高（P < 0.001）。我们发现参与基因连锁研究的遗传性乳腺癌-卵巢癌家族成员对BRCA1基因检测有很高的兴趣。鉴于乳腺癌和卵巢癌有早期发现和治疗的可能性，尽管实际检测率可能低于本研究及其他初步调查中报告的兴趣水平，但对BRCA1检测的兴趣可能转化为高检测率。这些结果表明，将后续咨询和支持纳入BRCA1检测项目至关重要。
