Send to

Choose Destination
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

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


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.

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Nature Publishing Group
Loading ...
Support Center