The Genetic Testing Quality Control Materials Program (GTQC)-A sustainable community process to improve availability of appropriate, verified quality control (QC) materials for genetic testing
Background: The expansion of molecular genetic testing in clinical and public health practice has increased the need for appropriate, verified quality control (QC) materials for quality assurance, test validation, proficiency testing, and development of new genetic tests. However, despite the growing test volume and the rapidly increasing number of tests being offered, the necessary QC materials are not available for many tests.
Method: The U.S. Centers for Disease Control and Prevention (CDC), in collaboration with members of the genetic testing community, has developed a program to improve public availability of QC materials and facilitate information exchange and communication on QC materials development, contribution, verification, distribution, and needs assessment. This CDC-based Genetic Testing Quality Control Materials Program (GTQC) provides continuing support and coordination to improve QC material availability. The GTQC Program 1) facilitates the identification, procurement, development, verification and distribution of needed QC materials; 2) facilitates exchange of QC-related information; and 3) explores collaborative efforts for ongoing needs monitoring and materials development.
Results: The GTQC has developed verified QC materials for Huntington disease and disorders on the Ashkenazi Jewish Panel (Bloom syndrome, f. dysautonomia, Canavan disease, Niemann-Pick disease, Tay-Sachs disease, Gaucher disease, Glycogen storage disease, Fanconi anemia and mucolipidosis type IV). The GTQC is currently developing verified QC materials for fragile X, cystic fibrosis and a number of other genetic tests. These materials, which are publicly available from Coriell Cell Repositories, are useful for quality control, proficiency testing, test development and research, and should help to improve the quality and accuracy of genetic testing. More information is available at the GTQC website, http://www.phppo.cdc.gov/dls/genetics/qcmaterials/default.aspx.