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Epidemiologic evaluation of screening for risk factors

Application to genetic screening

Bibliographic Data

ID11038784
AuthorsMuin J Khoury (0000-0002-9887-443X), Carol A Newill, G A Chase
Year1985
Volume75
Issue10
Pages1204-1208
Publication date1985-10-01
Peer ReviewedYes
Open AccessNo
TypeARTICLE
VenueAmerican Journal of Public Health (JOURNAL)
Journal identifiersISSN: 0090-0036 • E-ISSN: 1541-0048
PublisherAmerican Public Health Association (PUBLISHER • US)
DOI10.2105/ajph.75.10.1204
PMID3862352
OpenAlexW2092031593
LanguageEN
Citations received3
References cited7

To assess the usefulness of screening for risk factors, we derived arithmetic relationships between screening parameters (sensitivity, specificity, and positive predictive value PPV) and risk factor frequency, disease frequency and relative risk. We evaluated these relationships in the special case of genetic markers and disease susceptibility. It can be shown that even in the face of very large relative risks, sensitivity and positive predictive value are affected by the relative magnitude of disease and genetic marker frequencies. When the genetic marker is less frequent than the disease, PPV increases with increasing relative risk but sensitivity remains low. When the genetic marker is more frequent than the disease, sensitivity increases with increasing relative risk but PPV remains low. When marker and disease frequencies are equal, both PPV and sensitivity increase with increasing relative risks, but very high relative risks (greater than 100) have to be obtained for rare diseases. Depending on the goals of the screening program, these relationships can be used to predict the relative magnitudes of false positives (low PPV) and false negatives (low sensitivity). This approach can be generalized to evaluate nongenetic risk factors in screening programs as well

Biology · Confidence interval · Disease · Environmental health · False positive paradox · Gene · Genetic marker · Predictive value · Relative risk · Risk assessment · Risk factor · Sensitivity (control systems) · Statistics · BRCA gene mutations in cancer · Computer Science · Genetics · Genomics and Rare Diseases · Internal Medicine · Mathematics · Medicine

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  • Medical Screening of Workers

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Unique citing works3
Citations per year0,1
Citation span1996 - 2017 (22)
Citation velocityhistorical
Highly citedNo
Citation typesNeutral: 3

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