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J R Coll Physicians Edinb. 2012 Jun;42(2):139-41; quiz 142. doi: 10.4997/JRCPE.2012.211.

Genetic epidemiology.

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Public Health Medicine, Public Health Directorate, NHS Tayside, Kings Cross Hospital, Dundee, Scotland, UK.


The field of genetic epidemiology has advanced considerably over the past decade. The falling costs of genome-wide association studies have allowed the identification of many common genetic variants associated with risk of illness. This has advanced the understanding of disease pathogenesis but has not led to widespread changes in care. As these studies have become more common, a framework for reporting findings in the literature has been developed to ensure clinicians can accurately interpret the research. In future, whole genome genetic sequencing will likely lead to the identification of rarer variants more strongly associated with illness. Currently large resources for research, such as the UK Biobank project, are being developed which will allow detailed exploration of not only genes but the way their actions are controlled.

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