Genetics · Module 19 · Genetic testing and counseling

Genetic Testing Lab

Run a whole cohort of pregnancies or newborns through a screening test and watch true and false positives pile up; practise predictive values, false positive counts, test choice and report reading with animated worked solutions; sort tests and findings; and work through real counseling cases. Nothing here is graded.

Part 1: Screening Test Bench

True positiveFalse positiveFalse negativeTrue negative PPV curveNPV curve
Screening results: observed counts and expected values
MeasureThis runExpected

Simplifications: each person's true status is drawn by chance from the prevalence, and each test result by chance from the sensitivity and specificity, independently. Real screens report risk scores with cutoffs, can give no-call results, and their performance varies by group. The diagnostic follow-up test is set at 99.5% sensitivity and 99.95% specificity (teaching values). Preset numbers are rounded teaching values, not figures for any specific product.