title: Validation of human clinical genetic tests.
abstract: In the last ten years, a high amount of genetic assays has been developed for molecular biopathology and genetic laboratories of the hospitals, mainly developed and provided by external companies. In some cases, the specialized staff members of the hospitals (doctors, biopathologists, geneticists or pharmacists) develop their own methods. The validation of these methods is required before their use in clinical testing, in order to assess its reliability. Analytical methods are validated under the requirements of International Guidelines, but validation procedures for clinical genetic tests are under study and need clarifications. In this manuscript, the main information related to the field of genetic validation is revised, including statistics, explaining the difficulty of validation for some of the developed genetic tests. The provided information is in agreement with all the International Guides. The information could be useful by the workers daily performing this kind of analysis.
authors.forename: Juan
authors.initials: J
authors.lastname: Peris-Vicente
authors.forename: Enrique
authors.initials: E
authors.lastname: Ochoa-Arand
authors.forename: Samuel
authors.initials: S
authors.lastname: Carda-Broch
authors.affiliation: QFA, ESTCE, Universitat Jaume I, Campus del Riu Sec, Av/Sos Banyat s/n, 12071, Castello, Spain. vicentej@uji.es.
authors.forename: Josep
authors.initials: J
authors.lastname: Esteve-Romero
mesh_terms: D002138:Calibration; D005820:Genetic Testing / Q000379:methods / Q000592:standards*; D006801:Humans; D012015:Reference Standards; D015203:Reproducibility of Results; D054928:Validation Studies as Topic