title: Genetic screening for gynecological cancer: where are we heading?
abstract: 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.
authors.affiliation: 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.|GCRC, Women's Cancer, University College London, London, W1T 7DN, UK.
authors.forename: Ranjit
authors.initials: R
authors.lastname: Manchanda
authors.affiliation: UNSW Australia, Level 1, Chancellery Building, UNSW Sydney, NSW 2052, Australia.|University College London, Gower Street, London, UK.|University of Manchester, Oxford Road, Manchester, UK.
authors.forename: Ian
authors.initials: I
authors.lastname: Jacobs
mesh_terms: D001943:Breast Neoplasms / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005833:Genital Neoplasms, Female / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics* / Q000517:prevention & control; D006801:Humans; D007585:Jews / Q000235:genetics; D008403:Mass Screening; D011159:Population Surveillance; D057285:Precision Medicine; D015995:Prevalence; D018570:Risk Assessment; D012307:Risk Factors
keywords: BRCA1; BRCA2; cancer genes; genetic screening; genetic testing; population screening; risk prediction; risk stratification