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Population-based Genetic Testing for Precision Prevention

Evans, O; Manchanda, R; (2020) Population-based Genetic Testing for Precision Prevention. Cancer Prevention Research , 13 (8) pp. 643-648. 10.1158/1940-6207.CAPR-20-0002. Green open access

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Global interest in genetic-testing for Cancer-Susceptibility-Genes (CSG) has surged with falling costs, increasing awareness and celebrity endorsement. Current access to genetic-testing is based on clinical-criteria/risk-model assessment which uses family-history (FH) as a surrogate. However, this approach is fraught with inequality, massive underutilisation, and misses 50% CSG carriers. This reflects huge missed opportunities for precision-prevention. Early CSG identification, enables uptake of risk-reducing strategies in unaffected individuals to reduce cancer-risk. Population-based genetic-testing (PGT) can overcome limitations of clinical-criteria/FH-based testing. Jewish-population studies show population-based BRCA-testing is feasible, acceptable, has high-satisfaction, doesn't harm psychological well-being/quality-of-life and is extremely cost-effective, arguing for changing paradigm to PGT in the Jewish-population. Innovative approaches for delivering pre-test information/education are needed to facilitate informed decision-making for PGT. Different health-systems will need context specific implementation strategies and management pathways, while maintaining principles of population-screening. Data on general-population PGT are beginning to emerge, prompting evaluation of wider implementation. Sophisticated risk-prediction models incorporating genetic and non-genetic data are being used to stratify populations for ovarian-cancer and breast-cancer risk and risk-adapted screening/prevention. PGT is potentially cost-effective for panel-testing of breast-&-ovarian CSGs and for risk-adapted BC-screening. Further research/implementation studies evaluating the impact, clinical efficacy, psychological, and socio-ethical consequences and cost-effectiveness of PGT are needed.

Type: Article
Title: Population-based Genetic Testing for Precision Prevention
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1158/1940-6207.CAPR-20-0002
Publisher version: https://doi.org/10.1158/1940-6207.CAPR-20-0002
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Inst of Clinical Trials and Methodology
URI: https://discovery.ucl.ac.uk/id/eprint/10100844
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