title: A practical guide for the validation of genetic tests.
abstract: The unique aspects of genetic testing, such as the rarity of genetic disorders, lack of other tests for comparison, and heterogeneity and incomplete penetrance of some genetic diseases, make the validation of genetic tests a challenge in many instances. Although many organizations concerned with clinical laboratory testing and genetic testing in particular have acknowledged the need for validation of genetic tests prior to their introduction into routine practice, no guidelines exist on how to perform the validation of a genetic test. Given such difficulties faced by those involved in genetic testing, we present here a practical guide for the validation of genetic tests, compiled from the suggestions of several laboratorians involved in genetic testing and several officials involved in the oversight of laboratory testing in the United States.
authors.affiliation: Prence Consulting, Ellwood City, PA 16117, USA. eprence@bellatlantic.net
authors.forename: E M
authors.initials: EM
authors.lastname: Prence
mesh_terms: D003951:Diagnostic Errors; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics*; D005821:Genetic Techniques / Q000706:statistics & numerical data; D006801:Humans; D007753:Laboratories; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D011795:Surveys and Questionnaires; D014481:United States