title: A model program to increase translation of rare disease genetic tests: collaboration, education, and test translation program.
abstract: In 2006, The National Institutes of Health Office of Rare Diseases announced the Collaboration, Education, and Test Translation (CETT) Program, a pilot project to increase and improve the translation of genetic tests for rare diseases from research laboratories to clinical laboratories. The CETT Program created a new paradigm in which applicants must form a collaborative group consisting of a clinical laboratory, researcher, research laboratory, clinical expert, and disease-specific advocacy group. In addition, each collaborative group must assure that test results are written in a style and format appropriate for nonexpert clinicians; provide educational materials for clinicians and patients about the disease, as well as the use and limitations of the test in the care of persons with the disease; agree to collect clinical data necessary for test result interpretation; and store genotype information and clinical data in a publicly accessible deidentified database.
authors.affiliation: Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA. afaucett@genetics.emory.edu
authors.forename: William Andrew
authors.initials: WA
authors.lastname: Faucett
authors.forename: Suzanne
authors.initials: S
authors.lastname: Hart
authors.forename: Roberta A
authors.initials: RA
authors.lastname: Pagon
authors.forename: Lisa Forman
authors.initials: LF
authors.lastname: Neall
authors.forename: Giovanna
authors.initials: G
authors.lastname: Spinella
mesh_terms: D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D005821:Genetic Techniques; D006801:Humans; D017056:Medical Laboratory Personnel / Q000193:education; D017146:Models, Organizational; D016730:Program Development; D035583:Rare Diseases / Q000175:diagnosis*