A model program to increase translation of rare disease genetic tests: collaboration, education, and test translation program

Genet Med. 2008 May;10(5):343-8. doi: 10.1097/GIM.0b013e318172837c.

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.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Techniques*
  • Humans
  • Medical Laboratory Personnel / education
  • Models, Organizational*
  • Program Development*
  • Rare Diseases / diagnosis*