The Office of Rare Diseases of the National Institutes of Health has recently developed a new pilot program to help increase access to genetic tests for rare diseases. The Collaboration Education and Test Translation Program (CETT) is helping to make new genetic tests available to patients and families more quickly than was previously possible by encouraging the formation of collaborative teams that include a clinical laboratory, researcher, expert clinician and advocacy group for a particular rare disorder.

The mission of the CETT Program is to promote the development of new genetic tests for rare diseases; facilitate the translation of genetic tests from research laboratories to clinical practices; establish collaborations and provide education about each rare genetic disease, related genetic research and the clinical impact of testing; and support the collection and storage of genetic test result information in publicly accessible databases to leverage the information into new research and new treatment possibilities.

In the past year, ten new genetic tests for rare diseases have been made available to the public as a result of the CETT Program. The conditions that can now be tested for and the clinical laboratories providing testing are: Joubert syndrome (Prevention Genetics), Cornelia de Lange syndrome (University of Chicago), cherubism (Hospital for Sick Children Toronto), X-linked chondrodysplasia punctata (University of Chicago), Kallman syndrome (GeneDx), progressive familial intrahepatic cholestasis (Baylor College of Medicine), Russell Silver syndrome (Emory University) mucopolysaccharidosis type VI (Emory University), Niemann Pick disease type A/B (Emory University) and X-linked periventricular nodular heterotopia (Harvard University). Information about testing for these conditions is available at www.genetests.org.

Collaborative groups can apply to the CETT Program for funds to aid in the process of developing a new genetic test for a rare disease. For more information, please visit the CETT Program web site at www.cettprogram.org.