CETT Program: Impact at Year Four

The availability of high quality genetic testing is critical for confirming a diagnosis of a rare condition and can significantly impact a patient's clinical care. Development of a clinically-available genetic test for a rare disorder is often hindered by the significant up-front resources a laboratory must invest. This limitation is coupled with the likelihood that the investment may be difficult to recoup and, therefore, test demand alone may not incentivize CLIA-approved laboratories to expand in this manner.

The CETT (Collaboration, Education, and Test Translation) Program for rare genetic diseases was initiated in 2005 by the NIH Office of Rare Diseases Research to help overcome these barriers and to fund and assist in clinical test development and validation for rare diseases. Importantly, CETT applicants establish a working collaboration between a rare disease researcher, a patient advocacy group, and a clinical laboratory. The Collaborative team approach improves understanding of a condition through development of educational materials and supports communication among the groups. CETT forms a model for public health programs.

The importance of the CETT program is illustrated by the number of tests that have been made available to this vulnerable patient population. Thirty-nine applications have been approved through CETT, resulting in newly available clinical testing for eighty-nine diseases and 162 genes. Clinical testing has been performed over 3000 times for these conditions combined. Approved tests with the highest volumes to date include Cornelia de Lange, Progressive Familial Intrahepatic Cholestasis, and Russell Silver syndrome.