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Postanalytical tools improve performance of newborn screening by tandem mass spectrometry

2014; Elsevier BV; Volume: 16; Issue: 12 Linguagem: Inglês

10.1038/gim.2014.62

1530-0366

Patricia Hall, Gregg Marquardt, David McHugh, Robert J. Currier, Hao Tang, Stephanie D. Stoway, Piero Rinaldo,

Genomics and Rare Diseases

PurposeThe purpose of this study was to compare performance metrics of postanalytical interpretive tools of the Region 4 Stork collaborative project to the actual outcome based on cutoff values for amino acids and acylcarnitines selected by the California newborn screening program.MethodsThis study was a retrospective review of the outcome of 176,186 subjects born in California between 1 January and 30 June 2012. Raw data were uploaded to the Region 4 Stork Web portal as.csv files to calculate tool scores for 48 conditions simultaneously using a previously unpublished functionality, the tool runner. Scores for individual target conditions were deemed informative when equal or greater to the value representing the first percentile rank of known true-positive cases (17,099 cases in total).ResultsIn the study period, the actual false-positive rate and positive predictive value were 0.26 and 10%, respectively. Utilization of the Region 4 Stork tools, simple interpretation rules, and second-tier tests could have achieved a false-positive rate as low as 0.02% and a positive predictive value >50% by replacing the cutoff system with Region 4 Stork tools as the primary method for postanalytical interpretation.ConclusionRegion 4 Stork interpretive tools, second-tier tests, and other evidence-based interpretation rules could have reduced false-positive cases by up to 90% in California.Genet Med16 12, 889–895.