USC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA.
The Community Health Clinic, Topeka, IN.
Genet Med. 2024 Jan;26(1):100980. doi: 10.1016/j.gim.2023.100980. Epub 2023 Sep 6.
Genetic counseling (GC) is standard of care in genetic cancer risk assessment (GCRA). A rigorous assessment of the data reported from published studies is crucial to ensure the evidence-based implementation of GC.
We conducted a systematic review and meta-analysis of 17 patient-reported and health-services-related outcomes associated with pre- and post-test GC in GCRA in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and Grading of Recommendations Assessment, Development and Evaluation (GRADE) methodology.
Twenty-five of 5393 screened articles met inclusion criteria. No articles reporting post-test GC outcomes met inclusion criteria. For patient-reported outcomes, pre-test GC significantly decreased worry, increased knowledge, and decreased perceived risk but did not significantly affect patient anxiety, depression, decisional conflict, satisfaction, or intent to pursue genetic testing. For health-services outcomes, pre-test GC increased correct genetic test ordering, reduced inappropriate services, increased spousal support for genetic testing, and expedited care delivery but did not consistently improve cancer prevention behaviors nor lead to accurate risk assessment. The GRADE certainty in the evidence was very low or low. No included studies elucidated GC effect on mortality, cascade testing, cost-effectiveness, care coordination, shared decision making, or patient time burden.
The true impact of GC on relevant outcomes is not known low quality or absent evidence. Although a meta-analysis found that pre-test GC had beneficial effects on knowledge, worry, and risk perception, the certainty of this evidence was low according to GRADE methodology. Further studies are needed to support the evidence-based application of GC in GCRA.
遗传咨询(GC)是遗传癌症风险评估(GCRA)的标准护理。对已发表研究报告的数据进行严格评估对于确保基于证据的 GC 实施至关重要。
我们根据系统评价和荟萃分析的首选报告项目以及推荐评估、制定和评估(GRADE)方法学,对 17 项与 GCRA 中预测试和后测试 GC 相关的患者报告和健康服务相关结果进行了系统评价和荟萃分析。
在 5393 篇筛选文章中,有 25 篇符合纳入标准。没有一篇报告后测试 GC 结果的文章符合纳入标准。对于患者报告的结果,预测试 GC 显著降低了担忧,增加了知识,降低了感知风险,但并没有显著影响患者的焦虑、抑郁、决策冲突、满意度或进行基因检测的意愿。对于健康服务结果,预测试 GC 增加了正确的基因检测订单,减少了不适当的服务,增加了配偶对基因检测的支持,并加快了护理的提供,但并没有一致改善癌症预防行为,也没有导致准确的风险评估。证据的 GRADE 确定性为极低或低。没有纳入的研究阐明了 GC 对死亡率、级联测试、成本效益、护理协调、共同决策或患者时间负担的影响。
GC 对相关结果的实际影响尚不清楚,证据质量低或缺乏。尽管荟萃分析发现预测试 GC 对知识、担忧和风险感知有有益的影响,但根据 GRADE 方法学,该证据的确定性较低。需要进一步的研究来支持在 GCRA 中基于证据的 GC 应用。