Perspective

Genetic screening for gynecological cancer: where are we heading?

Ranjit Manchanda

*Author for correspondence:

E-mail Address: r.manchanda@qmul.ac.uk

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

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Ian Jacobs

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

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Published Online:7 Dec 2015https://doi.org/10.2217/fon.15.278

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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.

Keywords:

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Financial & competing interests disclosure

R Manchanda and I Jacobs are investigators on the GCaPPS trial on population testing for BRCA mutations, funded by the cancer charity The Eve Appeal. R Manchanda declares no other conflict of interest. I Jacobs has a financial interest in Abcodia Ltd, a company formed to develop academic and commercial development of biomarkers for screening and risk prediction. I Jacobs is a member of the board of Abcodia Ltd and a Director of Women's Health Specialists Ltd. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

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