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Nat Rev Clin Oncol. 2016 Jan;13(1):41-54. doi: 10.1038/nrclinonc.2015.173. Epub 2015 Oct 20.

Population genetic testing for cancer susceptibility: founder mutations to genomes.

Author information

1
Department of Human Genetics, McGill University, 1205 Docteur-Penfield, Montreal, QC H3A 1B1, Canada.
2
Department of Medicine and Oncology, McGill University, 1205 Docteur-Penfield, Montreal, QC H3A 1B1, Canada.
3
Centre of Genomics and Policy, Genome Quebec Innovation Centre, McGill University, 1205 Docteur-Penfield, Montreal, QC H3A 1B1, Canada.
4
Genomics England 100,000 Genomes Project, William Harvey Research Institute, Barts and The London, Queen Mary University, Charterhouse Square, London EC1M 6BQ, UK.
5
Institute of Cancer Research, 123 Old Brompton Road, London SW7 3RP, UK.

Abstract

The current standard model for identifying carriers of high-risk mutations in cancer-susceptibility genes (CSGs) generally involves a process that is not amenable to population-based testing: access to genetic tests is typically regulated by health-care providers on the basis of a labour-intensive assessment of an individual's personal and family history of cancer, with face-to-face genetic counselling performed before mutation testing. Several studies have shown that application of these selection criteria results in a substantial proportion of mutation carriers being missed. Population-based genetic testing has been proposed as an alternative approach to determining cancer susceptibility, and aims for a more-comprehensive detection of mutation carriers. Herein, we review the existing data on population-based genetic testing, and consider some of the barriers, pitfalls, and challenges related to the possible expansion of this approach. We consider mechanisms by which population-based genetic testing for cancer susceptibility could be delivered, and suggest how such genetic testing might be integrated into existing and emerging health-care structures. The existing models of genetic testing (including issues relating to informed consent) will very likely require considerable alteration if the potential benefits of population-based genetic testing are to be fully realized.

PMID:
26483301
DOI:
10.1038/nrclinonc.2015.173
[Indexed for MEDLINE]

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