Theoretical analysis of the predictability indices of the binary genetic tests

Abstract

A set of formulas for the indices of performance and predictive ability of the binary genetic tests is presented. Their dependence on disease prevalence and population frequency of a genetic marker is characterized. It is shown that a marker with the odds ratio OR < 2.2 has an initially low prognostic efficiency in every sense and at any frequencies of the disease and the marker. A marker can be a good classifier, when OR > 5.4, but only when its population frequency is rather high (>0.3). The formulas are presented that allow to obtain indirect estimates of absolute and relative risk of the disease for the carrier of a marker in the case-control studies

Keywords

AUC / genetic association studies / odds ratio / area under curve (AUC) / predictive genetic testing

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RIGHTS & PERMISSIONS

Rubanovich A.V., Khromov-Borisov N.N.