A system of nomination and evidence review has resulted in the adoption of a uniform newborn screening panel of thirty-one core and twenty-six secondary conditions. The majority of these disorders are inborn errors in metabolism and tandem mass spectrometry is most often used to screen for these disorders. To enable and facilitate the clinical validation of cutoff target ranges for these metabolic disorders by tandem mass spectrometry, a web-based application for the collection and reporting of analytical results has been developed and widely adopted into the routine practice of newborn screening laboratories worldwide. This suite of information tools aggregates technical and clinical data enabling real time technology development and quality improvement. The use of these tools for pilots of new technologies which screen for disorders that are not yet part of newborn screening panels may be useful for analytical and clinical validation studies. A new module of the laboratory performance tool was developed in conjunction with a four-state pilot of newborn screening for Severe Combined Immune Deficiency (SCID). The SCID pilot assessed screening technologies for SCID, established confirmatory tests and procedures for presumed positive cases and created follow-up and treatment strategies for cases. The SCID screening test detects the presence of a by-product obtained during the development of an important part of a functioning immune system, the T cell. Patients with SCID have few or no T cells and the absence of this by-product, T-cell receptor excision circles (TRECs), identifies SCID regardless of the underlying genetic defect or DNA variation. The TREC test utilizes molecular methods to count the number of TRECs present in DNA obtained from dried blood spots. The SCID module includes technology details, assay controls, assay results, confirmatory diagnosis and participating laboratory details. The aggregation and analysis of data led to revised diagnosis categories and is expected to provide estimates of disease prevalence. The SCID module is available for use by interested stakeholders and provides a transparent process for clinical validation of new screening technologies. The laboratory performance tool was successfully adapted to capture data related to the analytical and clinical validation of the TREC assay during a pilot of SCID newborn screening. This is a useful model for future investigations of new technologies and conditions.
Clinical Laboratory Performance Repository (CLPR)