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My research concerns the translation of genomics to applications in clinical and public health practice, with a focus on the genetic prediction of multifactorial diseases (e.g. diabetes, cardiovascular disease, asthma).
My research focuses on theoretical and methodological questions in prediction and the assessment of the clinical validity and utility of predictive testing. This includes (1) methodological studies on test performance measures; (2) simulation studies investigating the theoretical and potential predictive ability of polygenic risk models; and (3) empirical studies on the performance of polygenic risk models, mostly in cancer and cardiovascular diseases.
I co-chaired a workshop that developed reporting guidelines for genetic risk prediction studies, the GRIPS Statement, and chaired a workshop for the European Commission that proposed quality criteria for health checks.