Personalised medicine has long been a goal within healthcare. Growing amounts of digitised health information on individuals and sophisticated analytical tools are bringing it closer. Because we inherit our unique pattern of DNA variation at birth, genetics has a special role to play in disease risk prediction and in patient stratification for drug therapies.
For most common diseases individual genetic variants explain only a tiny fraction of risk. We have mined the world’s largest database of genetic association data with advanced algorithms to combine the evidence of thousands of such variants. This approach allows us to identify individuals most at risk of serious diseases, including coronary artery disease, breast cancer, prostate cancer, and type 2 diabetes, based on the DNA they have inherited.
In some cases these predictions could be used to alter current medical practice. For example, the top 3% of women (red curve below) will have the same risk of breast cancer in their early forties as a typical woman at age 50 (blue curve), whereas the lowest 3% won’t reach that level of risk until they are 70 (green curve). Currently in the NHS, breast cancer screening is based solely on age, with all women being offered screening when they turn 50.
Incorporating genetic risk scores into routine healthcare, alongside other risk factor tests like cholesterol levels, will require rigorous and careful science. More details about our approach can be found here.
A press release on our genetic risk scores can be found here.