EVALUATION AND IMPROVEMENT OF GENETIC SCREENING TESTS USING RECEIVER OPERATING CHARACTERISTIC CURVES

Described herein are methods for evaluating and improving performance of a genetic screening test for determining a fetal chromosomal abnormality in a test chromosome in a fetus by analyzing a maternal sample of a woman carrying the fetus. The method may include generating simulated maternal samples based on a determined relationship between values of statistical significance and abnormality classifications for the test chromosome of a plurality of reference maternal samples. The method may also include determining specificity values and sensitivity values for a range of abnormality classifier values for the test chromosome based on values of statistical significance and abnormality classifications for the plurality of reference maternal samples and the plurality of simulated maternal samples. A receiver operating characteristic (ROC) curve for the genetic screening test may be generated based on the determined specificity values and sensitivity values.