Abstract
The success of genome wide association studies (GWAS) in identifying common genetic variants that are associated with the risk of common complex diseases has raised expectations about genetic profiling for personalised therapeutic and public health interventions. Questions remain whether genetic profiling can help in targeting screening at genetically defined subpopulations to improve the benefit that harm ratio of screening programmes. Multiple genetic loci contribute to the increased risk of common diseases. For example, to date more than 20 loci have been implicated with type 2 diabetes (McCarthy 2010), more than 30 with prostate cancer and 18 with breast cancer (Varghese and Easton 2010). The risk alleles at these loci individually confer a modest increase in risk of disease (usually per-allele relative risks of less than 1.5) and the risk alleles appear to interact multiplicatively on the relative risk scale (Hingorani et al. 2010). Consequently, the susceptibility variants identified by GWAS explain only a small proportion of heritability of common diseases.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
