Next Article in Journal
Erratum: Zare, A. et al. RIPK2: New Elements in Modulating Inflammatory Breast Cancer Pathogenesis. Cancers, 2018, 10, 184
Next Article in Special Issue
Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer
Previous Article in Journal
TGFβ Imprinting During Activation Promotes Natural Killer Cell Cytokine Hypersecretion
Previous Article in Special Issue
A Recurrent BRCA2 Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico
Open AccessReview

Population Based Testing for Primary Prevention: A Systematic Review

by Ranjit Manchanda 1,2,3,* and Faiza Gaba 1,2
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 / 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
Show Figures

Figure 1

MDPI and ACS Style

Manchanda, R.; Gaba, F. Population Based Testing for Primary Prevention: A Systematic Review. Cancers 2018, 10, 424.

Show more citation formats Show less citations formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop