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Testing done on those suspected on basis of signs, symptoms or family history to have disease
Screening done independent of signs, symptoms, or family history
mass screening low false negative rate; follow-ups identify true positives and true negatives, inexpensive
Sensitivity A/A+C percentage of affected actually affected
Specificity D/B+D percentage of unaffected who are unaffected
To confirm results that may be false positives confirm for genetic heterogeneity, biologic variation, error
Biochemical assays comprehensive in covering multiple mutations in one gene or several genes in a metabolic pathway with a common endpoint
DNA mutation screens Requires high frequency mutations with current technology
A primary goal of population screening is to predict with high accuracy which individuals in a group are at significant risk of developing or transmitting a disease.
Once individuals at high risk for a disease are identified confirmatory (diagnostic) tests are then performed to detect the screened-for disease with greater certainty
A screening test only indicates who in a given population is most likely to be at higher risk for developing a disease.
A false positive occurs when a test misidentifies individuals as being higher risk, when they are actually not at higher risk.
A false negative occurs when individuals with a higher risk for the disorder are not identified by the screening test.
a diagnostic test is done following a positive screening test to determine whether an individual has a disorder and thus rules out false positives. Diagnostic tests are typically more
Disease registries a valuable epidemiological resource that can be used to calculate incidence rates and risks, as well as to maintain surveillance and monitor trends in incidence and mortality.
Created by: knpearso
Popular Genetics sets

 

 



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