Population Based Testing for Primary Prevention: A Systematic Review
1
Barts Cancer Institute, Queen Mary University of London, Old Anatomy Building, Charterhouse Square, London EC1M 6BQ, UK
2
Department of Gynaecological Oncology, St Bartholomew’s Hospital, London EC1A 7BE, 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
*
Author to whom correspondence should be addressed.
Cancers 2018, 10(11), 424; https://doi.org/10.3390/cancers10110424
Received: 29 September 2018
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Revised: 24 October 2018
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Accepted: 31 October 2018
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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.
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Keywords:
population testing; genetic testing; BRCA; Jewish; general population; cancer prevention; primary prevention
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MDPI and ACS Style
Manchanda, R.; Gaba, F. Population Based Testing for Primary Prevention: A Systematic Review. Cancers 2018, 10, 424. https://doi.org/10.3390/cancers10110424
AMA Style
Manchanda R, Gaba F. Population Based Testing for Primary Prevention: A Systematic Review. Cancers. 2018; 10(11):424. https://doi.org/10.3390/cancers10110424
Chicago/Turabian StyleManchanda, Ranjit, and Faiza Gaba. 2018. "Population Based Testing for Primary Prevention: A Systematic Review" Cancers 10, no. 11: 424. https://doi.org/10.3390/cancers10110424
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