Hilgart Jennifer S, Coles Bernadette, Iredale Rachel
Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, Wales, UK, CF14 4XN.
Cochrane Database Syst Rev. 2012 Feb 15;2012(2):CD003721. doi: 10.1002/14651858.CD003721.pub3.
The recognition of an inherited component to breast cancer has led to an increase in demand for information, reassurance, and genetic testing, which has resulted in the creation of genetic clinics for familial cancer. The first step for patients referred to a cancer genetic clinic is a risk assessment.
To evaluate the impact of cancer genetic risk-assessment services on patients at risk of familial breast cancer.
The specialised register maintained by the Cochrane Breast Cancer Group was searched on 16th February 2005. We also searched MEDLINE, EMBASE, CINAHL, PsycLIT, CENTRAL, DARE, ASSIA, Web of Science, SIGLE and LILACS. The original searches covered the period 1985 to February 2005. We also handsearched relevant journals. For this review update the search was repeated through to April 2011.
We considered trials looking at interventions for cancer genetic risk-assessment services for familial breast cancer for inclusion. Trials assessed outcomes such as understanding of risk, satisfaction and psychological well-being. We excluded studies if they concerned cancers other than breast cancer or if participants were not at risk of inherited breast cancer. We also excluded trials concerning the provision of general cancer genetic information or education as this review was concerned with the delivery of genetic risk assessment. Participants could be individuals of any age or gender, with or without a known BRCA mutation, but without a previous history of breast cancer or any other serious illness.
Two review authors independently assessed trial quality and extracted data. Additional information was sought from investigators as necessary. Due to the heterogeneity of both the interventions and outcomes, we reported data descriptively.
In this review update, we included five new trials, bringing the total number of included studies to eight. The included trials (pertaining to 10 papers), provided data on 1973 participants and assessed the impact of cancer genetic risk assessment on outcomes including perceived risk of inherited cancer, and psychological distress. This review suggests that cancer genetic risk-assessment services help to reduce distress, improve the accuracy of the perceived risk of breast cancer, and increase knowledge about breast cancer and genetics. The health professional delivering the risk assessment does not appear to have a significant impact on these outcomes.
AUTHORS' CONCLUSIONS: This review found favourable outcomes for patients after risk assessment for familial breast cancer. However, there were too few papers to make any significant conclusions about how best to deliver cancer genetic risk-assessment services. Further research is needed assessing the best means of delivering cancer risk assessment, by different health professionals, in different ways and in alternative locations.
乳腺癌遗传因素的发现导致人们对信息、安心感及基因检测的需求增加，这促使了家族性癌症基因诊所的设立。被转诊至癌症基因诊所的患者的第一步是进行风险评估。
评估癌症遗传风险评估服务对有家族性乳腺癌风险的患者的影响。
2005年2月16日检索了Cochrane乳腺癌小组维护的专门登记册。我们还检索了MEDLINE、EMBASE、CINAHL、PsycLIT、CENTRAL、DARE、ASSIA、科学引文索引、SIGLE和LILACS。最初的检索涵盖1985年至2005年2月的时间段。我们还手工检索了相关期刊。为了此次综述更新，检索重复至2011年4月。
我们考虑纳入针对家族性乳腺癌癌症遗传风险评估服务干预措施的试验。试验评估的结果包括对风险的理解、满意度和心理健康。如果研究涉及除乳腺癌以外的其他癌症，或者参与者没有遗传性乳腺癌风险，我们将其排除。我们还排除了关于提供一般癌症遗传信息或教育的试验，因为本综述关注的是遗传风险评估的提供。参与者可以是任何年龄或性别的个体，有无已知的BRCA突变，但无前乳腺癌或任何其他严重疾病史。
两位综述作者独立评估试验质量并提取数据。必要时向研究者寻求更多信息。由于干预措施和结果的异质性，我们以描述性方式报告数据。
在本次综述更新中，我们纳入了五项新试验，使纳入研究的总数达到八项。纳入的试验（涉及10篇论文）提供了1973名参与者的数据，并评估了癌症遗传风险评估对包括遗传性癌症感知风险和心理困扰等结果的影响。本综述表明，癌症遗传风险评估服务有助于减轻困扰，提高乳腺癌感知风险的准确性，并增加有关乳腺癌和遗传学的知识。提供风险评估的卫生专业人员似乎对这些结果没有显著影响。
本综述发现对家族性乳腺癌进行风险评估后患者有良好结果。然而，论文数量太少，无法就如何最好地提供癌症遗传风险评估服务得出任何重要结论。需要进一步研究评估由不同卫生专业人员、以不同方式并在不同地点提供癌症风险评估的最佳方法。
