Many common diseases have a genetic component. StoreGene has tests in development for various diseases that use genotyping of associated variants, or a combination of genotyping and environmental factors, to provide a more accurate assessment of disease risk.

Abdominal aortic aneurysm (AAA) a localised swelling of the abdominal aorta. It ususally causes no symptoms, but carries a risk of rupturing, which causes massive internal bleeding and is often fatal. The main risk factors for AAA are age, male sex, smoking, atherosclerosis and its related risk factors, and blood pressure. In the UK, the NHS offers AAA screening for men over 65 years old.

Genetic risk factors have also been found that contribute to risk of AAA. Our test will use conventional and genetic risk factors to provide an individual risk estimate for disease.

Type 2 diabetes is a chronic condition that causes raised blood glucose levels, due to insufficient insulin production by the pancreas or a lack of sensitivity to insulin in the pancreas. People with diabetes are up to five times more likely to develop cardiovascular disease, and it can also cause other serious complications like vision loss, kidney failure and lower limb amputation.

Risk factors for type 2 diabetes include age, ethnicity and being overweight or obese, but genetic variants can also play a large role. Adding in genetic variants has been shown to improve prediction of diabetes risk. Our test will use conventional risk factors and the genotypes of 65 variants to provide an estimate of individual type 2 diabetes risk.

Colorectal cancer is one of the most common types of cancer in the UK, with approximately 1 in 20 people developing it in their lifetime, and it is associated with a high mortality rate. A number of factors can increase people’s risk of developing colorectal cancer, including age, diet, being overweight or obese, physical inactivity, alcohol consumption and cigarette smoking. Genetic factors can also have an influence on overall risk of colorectal cancer.

A small percentage (5%) of colorectal cancers are caused by single inherited mutations that cause colorectal cancer syndromes. People who have a mutation that causes one of these syndromes have significantly increased chances of developing colorectal cancer. However, having a mutation does not mean a person will definitely develop colorectal cancer. There may be a number of ways of reducing the risk of developing cancer including early screening and therapeutic intervention.

StoreGene will use a DNA sample to look at common variants and lifestyle factors, providing a general assessment of how genes and lifestyle affect colorectal cancer risk, and the presence of any rare inherited mutations that cause colorectal cancer syndromes.