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Cancers (Basel). 2018 Nov 5;10(11). pii: E424. doi: 10.3390/cancers10110424.

Population Based Testing for Primary Prevention: A Systematic Review.

Author information

1
Barts Cancer Institute, Queen Mary University of London, Old Anatomy Building, Charterhouse Square, London EC1M 6BQ, UK. r.manchanda@qmul.ac.uk.
2
Department of Gynaecological Oncology, St Bartholomew's Hospital, London EC1A 7BE, UK. r.manchanda@qmul.ac.uk.
3
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. r.manchanda@qmul.ac.uk.
4
Barts Cancer Institute, Queen Mary University of London, Old Anatomy Building, Charterhouse Square, London EC1M 6BQ, UK. f.gaba@qmul.ac.uk.
5
Department of Gynaecological Oncology, St Bartholomew's Hospital, London EC1A 7BE, UK. f.gaba@qmul.ac.uk.

Abstract

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.

KEYWORDS:

BRCA; Jewish; cancer prevention; general population; genetic testing; population testing; primary prevention

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