Optimal Treatment Threshold for Identified Mutation-Carriers with Low Pre-Test Risk

Lars Asphaug from the Department of Health Management and Health Economics, University of Oslo will be delivering a seminar at the University of Leeds on the 2nd of April 2019.

Genetic tests are usually reserved for individuals with a certain pre-test risk of the disease, to either confirm or rule out a suspected diagnosis. However, with incidental findings in whole genome sequencing, or private purchase of commercial genetic tests, some identified individuals will not fit typical testing criteria. When the usual risk-modifying factors (e.g. family history of disease ) are missing - should invasive risk-reducing treatments be offered to carriers of pathogenic mutations? Is there an appropriate treatment threshold in terms of the relative risk of disease?

This analysis attempts to answer these questions by combining methods for causal inference, ROC-analysis, and individual level state-transition models. The goal is to provide the decision maker with information on the trade-off of under and over-treating, and which treatment inducing threshold would provide the best outcomes.