Human Genetics Data Applied to Genetic Screening Programs

The uses of human genetic data in genetic screening are multifaceted and dynamic, creating an ongoing stream of useful prevalence data, ethnicity data, and natural history information. Since the primary facility for generation of these data is a large public health genetic screening program, however, the results must be continually analyzed and evaluated in the context of testing parameters. For example, presumptive positive rates (initial screening test positives, only a portion of which will become diagnosed cases), false positive rates, detection rates, and analytical values must be constantly checked to ensure the screening program is running smoothly and effectively. Any departures from the expected must be investigated so that the cause(s) can be determined and corrected. On a longitudinal basis, outcomes must be evaluated to ensure that the intended purpose of preventing mortality and reducing morbidity through intervention is achieved

Biology · Context (archaeology · Environmental health · Ethnic group · False positive paradox · Genetic data · Genetic testing · Intervention (counseling · Machine learning · Political science · Population · True positive rate · BRCA gene mutations in cancer · Computer Science · Health, Environment, Cognitive Aging · Medicine · Nutrition, Genetics, and Disease · Artificial Intelligence