Comparison of proactive and usual approaches to offering predictive testing for BRCA1/2 mutations in unaffected relatives
Comparison of proactive and usual approaches to offering predictive testing for BRCA1/2 mutations in unaffected relatives
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DOI：
10.1111/j.1399-0004.2008.01146.x
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发表时间：
2009-02-01
影响因子：
3.5
通讯作者：
Craufurd, D.
中科院分区：
文献类型：
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作者：
Evans, D. G. R.;Binchy, A.;Craufurd, D.
[2]Evans DGR，Binchy A，Shenton A，Hopwood P，Crauford D.对未受影响的亲属提供BRCA1/2突变预测检测的主动和常规方法的比较.临床基因2009：75：124-132.(C)布莱克韦尔·蒙克斯加德，2009年，很少有研究涉及BRCA1/2预测测试的吸收，只有一项研究比较了主动与通常的家庭网络传播方法。我们报告了在直接向5个BRCA1大家族的两代100人提供BRCA1症状前基因检测后，预测性基因检测的吸收情况，与此后196个家系的服务检测进行了比较。在直接接受测试的第一代(第1组)中，摄取显著更高，在女性中更高。在第一代未受影响的女性中，74%的人进行了检测，而男性的比例为42%。在第二代(第2组)中，这一比例降至44%，男性为9%(p=0.0003)。未采取主动措施的最后一组(第3组)未受影响的个体的摄取显著低于第一组。10年后，第1组的总体摄取率为56%(95%可信区间，50-62%)，1084名第3组个体的总摄取率为36%(95%可信区间，34.3-37.7%)(p=0.0003)。在女性中，第一组在10年时的摄取率为74%(95%可信区间67-81%)，而第三组女性为51.5%(95%可信区间49-54%)(p=0.023)。在男性中，第1组摄取率为42%(95%可信区间33-52%)，第3组男性摄取率为21.1%(95%可信区间18.1-23.1%)(p=0.0098)。尽管这些结果不是来自随机试验，但它们表明，通过直接方法，特别是在男性中，遗传服务的接受率要高得多。应重视采取更积极主动的方法，以确保BRCA1/2阳性家庭的男性获得适当的信息。
Evans DGR, Binchy A, Shenton A, Hopwood P, Craufurd D. Comparison of proactive and usual approaches to offering predictive testing for BRCA1/2 mutations in unaffected relatives.Clin Genet 2009: 75: 124-132. (C) Blackwell Munksgaard, 2009There have been few studies addressing uptake of predictive testing for BRCA1/2, only one comparing a proactive with usual family networking approach to dissemination. We report uptake of predictive genetic testing after directly offering BRCA1 presymptomatic genetic testing to 100 individuals in two generations of 5 large BRCA1 families compared with service testing of 196 families since that time. Uptake was significantly higher in the first generation (group 1), who were directly offered testing, and much higher in females. Seventy-four percent of unaffected women in the first generation proceeded to testing, 42% of men. This decreased to 44% of women in the second generation (group 2) and 9% males (p = 0.0003). Uptake in unaffected individuals in the final group (group 3) with no proactive approach was significantly lower than that in the first group. Overall uptake after 10 years was 56% (95% confidence interval, CI, 50-62%) for group 1 and 36% (95% CI 34.3-37.7%) for 1084 group 3 individuals (p = 0.0003). Among women, uptake was 74% (95% CI 67-81%) in group 1 at 10 years compared with 51.5% (95% CI 49-54%) in 552 group 3 women (p = 0.023). In men, uptake was 42% (95% CI 33-52%) in group 1 and 21.1% (95% CI 18.1-23.1%) among 532 men in group 3 (p = 0.0098). Although these results are not from a randomized trial, they show particularly among men a substantially higher uptake of genetic services with a direct approach. Importance should be given to more proactive approaches to ensure that men in BRCA1/2-positive families receive the appropriate information.