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Discovering the causes of cancer and the means of prevention

Methods for Clinical Decision-Making: Risk Models with Polygenic Risk Scores - Dr. Meisner

Biostatistics Branch Seminar Series

March 9, 2020 | 10:00 AM – 11:30 AM

NCI Shady Grove 7E032/034 Rockville, Maryland

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Allision Meisner, Ph.D.
Department of Biostatistics, 
Johns Hopkins University


My research interests lie in the development of statistical methods that can be used to inform clinical decision-making. These methods aim to provide actionable, relevant information to patients and clinicians such as risk of a particular disease or response to a given treatment. In this seminar, I will outline the broad themes of my research, discuss in detail two recent projects related to polygenic risk scores (PRS), and touch on possibilities for future work, including methods for PRS as treatment selection tools. The two projects I will focus on relate to the use of PRS in risk models. In particular, in constructing risk models, it is important to account for genetic factors, environmental factors, and their interaction to enable estimation of risk and identification of high-risk subgroups. Historically, research into the genetic determinants of disease has largely focused on the role of individual variants. However, many common diseases are highly polygenic and result from the combined effect of many variants, each with small effect. A great deal of attention has been paid recently to PRS, which represent the total genetic burden of a given trait. I will present an efficient case-only method for using PRS to identify gene-environment interactions and an expansive analysis of the combined utility of PRS for specific diseases and mortality risk factors in stratifying mortality risk in the UK Biobank, a large cohort study.

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