Braithwaite Dejana, Emery Jon, Walter Fiona, Prevost A Toby, Sutton Stephen
Department of Public Health and Primary Care, Institute of Public Health, University of Cambridge, Cambridge, UK.
J Natl Cancer Inst. 2004 Jan 21;96(2):122-33. doi: 10.1093/jnci/djh017.
Identification of a genetic basis underlying certain types of cancer has led to an increase in demand for genetic counseling about individual risks of the disease. We conducted a systematic review of the literature to determine the quality and strength of evidence relating to psychological outcomes of genetic counseling for familial cancer.
Six electronic databases were searched to identify controlled trials and prospective studies that examined the effect of genetic counseling on risk perception, knowledge, anxiety, cancer-specific worry, depression, and cancer surveillance. Twenty-one studies from 25 papers met inclusion criteria, including five controlled trials and 16 prospective studies. Analysis of each outcome was stratified by short-term (< or =1 month) and long-term (> or = 3 months) follow-up. Trial evidence was assessed with standardized differences of the means at follow-up between intervention and comparison groups, and these data were pooled by use of random-effects meta-analysis.
Meta-analysis of controlled trials showed that genetic counseling improved knowledge of cancer genetics (pooled short-term difference = 0.70 U, 95% confidence interval [CI] = 0.15 to 1.26 U) but did not alter the level of perceived risk (pooled short-term difference = -0.10 U, 95% CI = -0.23 to 0.04 U). Prospective studies reported improvements in the accuracy of perceived risk. No effect was observed in controlled trials on general anxiety (pooled long-term effect = 0.05 U, 95% CI = -0.21 to 0.31 U) or cancer-specific worry (pooled long-term difference = -0.14 U, 95% CI = -0.35 to 0.06 U), although several prospective studies demonstrated short-term reductions in these outcomes. Few studies examined cancer surveillance behaviors, and no studies attempted to measure informed choice.
Genetic counseling for familial cancer is associated with improvement in knowledge but does not have an adverse effect on affective outcomes. We urge further investigation of these findings through well-designed, well-reported, randomized controlled trials with suitable comparison groups and additional outcome measures.
某些类型癌症的遗传基础得以确定，这导致对疾病个体风险的遗传咨询需求增加。我们对文献进行了系统综述，以确定与家族性癌症遗传咨询心理结果相关证据的质量和强度。
检索了六个电子数据库，以识别检验遗传咨询对风险认知、知识、焦虑、癌症特异性担忧、抑郁和癌症监测影响的对照试验和前瞻性研究。来自25篇论文的21项研究符合纳入标准，包括五项对照试验和16项前瞻性研究。对每个结果的分析按短期（≤1个月）和长期（≥3个月）随访进行分层。用干预组和对照组随访时均值的标准化差异评估试验证据，并通过随机效应荟萃分析汇总这些数据。
对照试验的荟萃分析表明，遗传咨询提高了癌症遗传学知识（汇总短期差异=0.70 U，95%置信区间[CI]=0.15至1.26 U），但未改变感知风险水平（汇总短期差异=-0.10 U，95%CI=-0.23至0.04 U）。前瞻性研究报告了感知风险准确性的提高。对照试验未观察到对一般焦虑（汇总长期效应=0.05 U，95%CI=-0.21至0.31 U）或癌症特异性担忧（汇总长期差异=-0.14 U，95%CI=-0.35至0.06 U）有影响，尽管几项前瞻性研究表明这些结果短期内有所降低。很少有研究考察癌症监测行为，也没有研究试图衡量知情选择。
家族性癌症的遗传咨询与知识改善相关，但对情感结果没有不利影响。我们敦促通过设计良好、报告充分、有合适对照组和额外结果测量的随机对照试验对这些发现进行进一步研究。
