Evaluating the utility of disease polygenetic risk scores in identifying high-risk individuals using UK Biobank data

With the rapid surge of genomic information for diseases and traits, there is a growing interest in its application in personalized medicine, including improving individual disease risk prediction. We propose to evaluate whether the aggregate information from multiple common variants associated with respective diseases and traits is useful to identify people who are at high risk of developing certain diseases and traits. By reviewing the literature and analyzing UK Biobank data, we will obtain a list of genetic variants associated with each of the common diseases and traits we would like to investigate, such as cancers and cardiometabolic diseases. We will create a polygenic risk score for each of these diseases and traits using these genetic variants. We will evaluate the association of each of these polygenic scores with their respective diseases and then estimate the proportion of the individuals that could be identified to be at a significantly elevated risk of developing a particular disease or a group of diseases. The results of our proposed study will help to understand the role of aggregate common variants inherited by each individual in determining disease and trait variation in the general population. Our research is in agreement with the aims of UK Biobank: “research intended to improve the prevention, diagnosis and treatment of illness and the promotion of health throughout society”.