Developing a Sustainable Process to Provide Quality Control Materials for Genetic Testing

Abstract

Improving the availability of appropriate QC materials is of critical importance for assuring the quality of genetic testing, enhancing performance evaluation and PT/EQA programs, and facilitating new test development. To meet the needs of the rapidly expanding capacity of genetic testing in clinical and public health settings, a comprehensive, coordinated program should be developed. A Genetic Testing Quality Control Materials Program has therefore been established by CDC in March 2005 to serve these needs.

Quality assurance practices in Europe: a survey of molecular genetic testing laboratories

“…Further, 28% of laboratories did not use RMs, which are crucial for the development, validation and monitoring of assays and thus for enhancing the quality of genetic testing. 29 A limitation of this study was that we did not obtain answers from all HMGT laboratories. Therefore, we must be careful when making assumptions for the whole population.…”

Quality Assurance for Duchenne and Becker Muscular Dystrophy Genetic Testing

“…This assay, as previously described, 20 amplifies 24 exons (exons 3,4,6,8,12,13,16,17,19,32, 34, 41 to 52, and 60) and two promoter regions of DMD, which comprise the gene regions in which most mutations are identified. The multiplex PCR reactions enable detection of as many as 10 different exons in a single reaction.…”

“…Ideally, reference materials should resemble a patient sample and all variant alleles or mutation types that the assay is designed to detect. 11 Use of reference materials for laboratory quality assurance is also mandated by regulatory requirements and professional guidelines [12][13][14][15][16] Reference materials for clinical DMD genetic testing are not commercially available. Laboratories commonly use genomic DNA from residual patient specimens or from publicly available cell lines such as those in the Coriell Cell Repositories (Camden, NJ) as reference materials.…”

Reference Measurement Systems in Genetic Testing: Development of DNA-based Reference

“…This definition states that an RM is a "Material, sufficiently homogeneous and stable with respect to one or more 7 specified properties, which has been established to be fit for its intended use in a measurement The first note emphasizes the fact that the term 'reference material' should be understood as a family name covering different types of RMs [32], such as Quality Control Materials (QCMs), Calibrators and CRMs (Figure 2.). QCMs do not need additional features beyond the fundamental requirements for any type of RMs.…”

“…[31] Main steps in the production of CRM include the design of a RM depending on its intended use, the selection of an appropriate starting material, a feasibility study for processing and characterising the material, the preparation of the candidate RM, a homogeneity study, short-and long-term stability studies, the characterisation of the candidate RM with respect to the target properties and evaluation of performance by the intended users (e.g. clinical laboratories) in situations where most likely will be used, the assignment of the certified values and their uncertainties, and finally, the issuing of a certificate [29,31] that states the value of the specified property, its associated uncertainty and a statement of metrological traceability [30,32]. The content of the certificate is defined in the ISO Guide 31 [33].…”