The Open Medical Informatics Journal

2012, 6 : 36-50
Published online 2012 December 14. DOI: 10.2174/1874431101206010036
Publisher ID: TOMINFOJ-6-36

RESEARCH ARTICLE
Information Theoretic Quantification of Diagnostic Uncertainty

M Brandon Westover , Nathaniel A Eiseman , Sydney S Cash and Matt T Bianchi, *
Neurology Department, Massachusetts General Hospital, Wang 720, Boston, MA 02114, USA

* Address correspondence to this author at the Wang 7 Neurology, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA; Tel: 617-724-7426; Fax: 617-724-6513; E-mail: mtbianchi@partners.org

ABSTRACT

Diagnostic test interpretation remains a challenge in clinical practice. Most physicians receive training in the use of Bayes’ rule, which specifies how the sensitivity and specificity of a test for a given disease combine with the pre-test probability to quantify the change in disease probability incurred by a new test result. However, multiple studies demonstrate physicians’ deficiencies in probabilistic reasoning, especially with unexpected test results. Information theory, a branch of probability theory dealing explicitly with the quantification of uncertainty, has been proposed as an alternative framework for diagnostic test interpretation, but is even less familiar to physicians. We have previously addressed one key challenge in the practical application of Bayes theorem: the handling of uncertainty in the critical first step of estimating the pre-test probability of disease. This essay aims to present the essential concepts of information theory to physicians in an accessible manner, and to extend previous work regarding uncertainty in pre-test probability estimation by placing this type of uncertainty within a principled information theoretic framework. We address several obstacles hindering physicians’ application of information theoretic concepts to diagnostic test interpretation. These include issues of terminology (mathematical meanings of certain information theoretic terms differ from clinical or common parlance) as well as the underlying mathematical assumptions. Finally, we illustrate how, in information theoretic terms, one can understand the effect on diagnostic uncertainty of considering ranges instead of simple point estimates of pre-test probability.

Keywords:

Bayes’ rule, diagnosis, information, probability, uncertainty.