Goal: To develop and evaluate approaches that can cost effectively enhance the diagnosis, early detection, prediction and control of chronic disease outcomes.
Achievements: We have shaped clinical management guidelines by producing precise cancer risk estimates for women with genetic faults in major cancer susceptibility genes (eg, PALB2, CHEK2, BRIP1), and have shown that cancer risks for women with genetic faults in BRCA1 and BRCA2 depend on both the precise mutation and the woman’s family cancer history. We have developed widely used prognostic tools for breast and ovarian cancer, as well as electronic clinical decision support tools for general practitioners to help target cancer screening more accurately. Our work has also shaped >10 cardiovascular disease risk management guidelines, principally by suggesting approaches that simplify risk prediction without sacrificing accuracy.