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Open AccessReview

Population Based Testing for Primary Prevention: A Systematic Review

by Ranjit Manchanda 1,2,3,* and Faiza Gaba 1,2
Barts Cancer Institute, Queen Mary University of London, Old Anatomy Building, Charterhouse Square, London EC1M 6BQ, UK
Department of Gynaecological Oncology, St Bartholomew’s Hospital, London EC1A 7BE, UK
Gynaecological Cancer Research Centre, Department of Women’s Cancer, Institute for Women’s Health, University College London, 149 Tottenham Court Road, London W1T 7DN, UK
Author to whom correspondence should be addressed.
Cancers 2018, 10(11), 424;
Received: 29 September 2018 / Revised: 24 October 2018 / Accepted: 31 October 2018 / Published: 5 November 2018
(This article belongs to the Special Issue BRCA Mutations and Cancer)
The current clinical model for genetic testing is based on clinical-criteria/family-history (FH) and a pre-defined mutation probability threshold. It requires people to develop cancer before identifying unaffected individuals in the family to target prevention. This process is inefficient, resource intensive and misses >50% of individuals or mutation carriers at risk. Population genetic-testing can overcome these limitations. It is technically feasible to test populations on a large scale; genetic-testing costs are falling and acceptability and awareness are rising. MEDLINE, EMBASE, Pubmed, CINAHL and PsychINFO databases were searched using free-text and MeSH terms; retrieved reference lists of publications were screened; additionally, web-based platforms, Google, and clinical-trial registries were searched. Quality of studies was evaluated using appropriate check-lists. A number of studies have evaluated population-based BRCA-testing in the Jewish population. This has been found to be acceptable, feasible, clinically-effective, safe, associated with high satisfaction rates and extremely cost-effective. Data support change in guidelines for population-based BRCA-testing in the Jewish population. Population panel testing for BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 gene mutations is the most cost-effective genetic-testing strategy in general-population women and can prevent thousands more breast and ovarian cancers than current clinical-criteria based approaches. A few ongoing studies are evaluating population-based genetic-testing for multiple cancer susceptibility genes in the general population but more implementation studies are needed. A future population-testing programme could also target other chronic diseases. View Full-Text
Keywords: population testing; genetic testing; BRCA; Jewish; general population; cancer prevention; primary prevention population testing; genetic testing; BRCA; Jewish; general population; cancer prevention; primary prevention
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Manchanda, R.; Gaba, F. Population Based Testing for Primary Prevention: A Systematic Review. Cancers 2018, 10, 424.

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