Over the past few years there has been considerable investment in genomics (DNA-based) research, including the Prime Minister’s announcement of £100 million to sequence 100 000 whole genomes.1 Despite so much hype about the anticipated impact of genomics on our understanding of susceptibility to cancer and other chronic diseases, new interventions have only recently begun to emerge.2 When and how are these advances likely to impact on primary care’s key role in preventing and treating common chronic diseases?
CHRONIC DISEASE PREVENTION IN PRIMARY CARE
Chronic disease prevention in primary care aims to identify individuals at increased risk who can then be given tailored disease prevention advice including lifestyle modification, disease screening, or preventive treatment. Current approaches to chronic disease risk assessment use a combination of factors including demographics, family history, lifestyle, physiological measurements, and biomarkers. GPs in the UK are familiar with using electronic risk calculators to provide a personal risk score, such as the QRISK2 algorithm for primary prevention of cardiovascular disease.3 The family medical history currently makes an important contribution to risk assessment for many diseases as the risk of a number of cancers, type 2 diabetes, and ischaemic heart disease are all increased in the presence of a family history; this risk increases with more affected relatives.4 Family history can be viewed as a proxy for genetic predisposition as well as environmental and lifestyle factors, and remains the most clinically relevant genetic risk tool for GPs.
RECENT GENOMICS ADVANCES
While epidemiological studies have elucidated the most important risk factors for disease over the past half century, this …