Manchanda Ranjit, Jacobs Ian
Department of Gynaecological Oncology, Bartshealth NHS Trust, Royal London Hospital, London, E1 1BB, UK.
Barts Cancer Institute, Charter House Square, Queen Mary University of London, London, EC1M 6BQ, UK.
Future Oncol. 2016 Jan;12(2):207-20. doi: 10.2217/fon.15.278. Epub 2015 Dec 7.
The landscape of cancer genetics in gynecological oncology is rapidly changing. The traditional family history-based approach has limitations and misses >50% mutation carriers. This is now being replaced by population-based approaches. The need for changing the clinical paradigm from family history-based to population-based BRCA1/BRCA2 testing in Ashkenazi Jews is supported by data that demonstrate population-based BRCA1/BRCA2 testing does not cause psychological harm and is cost effective. This article covers various genetic testing strategies for gynecological cancers, including population-based approaches, panel and direct-to-consumer testing as well as the need for innovative approaches to genetic counseling. Advances in genetic testing technology and computational analytics have facilitated an integrated systems medicine approach, providing increasing potential for population-based genetic testing, risk stratification, and cancer prevention. Genomic information along-with biological/computational tools will be used to deliver predictive, preventive, personalized and participatory (P4) and precision medicine in the future.
妇科肿瘤学中的癌症遗传学格局正在迅速变化。传统的基于家族病史的方法存在局限性，会遗漏超过50%的突变携带者。如今，这种方法正被基于人群的方法所取代。有数据表明，基于人群的BRCA1/BRCA2检测不会造成心理伤害且具有成本效益，这支持了在阿什肯纳兹犹太人中，将临床模式从基于家族病史的BRCA1/BRCA2检测转变为基于人群的检测。本文涵盖了妇科癌症的各种基因检测策略，包括基于人群的方法、基因检测组合和直接面向消费者的检测，以及对创新的遗传咨询方法的需求。基因检测技术和计算分析的进展推动了综合系统医学方法的发展，为基于人群的基因检测、风险分层和癌症预防提供了越来越大的潜力。基因组信息以及生物/计算工具将在未来用于提供预测性、预防性、个性化和参与性（P4）以及精准医学。
