Review
Version 1
Preserved in Portico This version is not peer-reviewed
Population Based Testing for Primary Prevention: A Systematic Review
Version 1
: Received: 29 September 2018 / Approved: 30 September 2018 / Online: 30 September 2018 (06:30:36 CEST)
A peer-reviewed article of this Preprint also exists.
Manchanda, R.; Gaba, F. Population Based Testing for Primary Prevention: A Systematic Review. Cancers 2018, 10, 424. Manchanda, R.; Gaba, F. Population Based Testing for Primary Prevention: A Systematic Review. Cancers 2018, 10, 424.
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 intense and misses >50% of individuals/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 the acceptability/awareness is rising. MEDLINE/EMBASE/Pubmed/CINAHL/PsychINFO databases were searched using a free-text and MeSH terms; reference lists of publications retrieved screened; additionally web-based platforms, Google, and clinical-trial registries were searched. Quality of studies were 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 to 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/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
population testing; genetic testing; BRCA; Jewish; general population; cancer prevention; primary prevention
Subject
Medicine and Pharmacology, Obstetrics and Gynaecology
Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Comments (0)
We encourage comments and feedback from a broad range of readers. See criteria for comments and our Diversity statement.
Leave a public commentSend a private comment to the author(s)
* All users must log in before leaving a comment
