Postanalytical tools improve performance of newborn screening by tandem mass spectrometry

作者：Hall Patricia L; Marquardt Gregg; McHugh David M S; Currier Robert J; Tang Hao; Stoway Stephanie D; Rinaldo Piero^*

来源：Genetics in Medicine, 2014, 16(12): 889-895.

DOI：10.1038/gim.2014.62

• cutoff values
• newborn screening
• postanalytical interpretive tools
• second-tier test
• tandem mass spectrometry

Purpose: The 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.
Methods: This 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the Region 4 Stork Web portal as.csv files to calculate tool scores for 48 conditions simultaneously using a previously unpublished functionality the tool runner.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).
Results: In 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.
Conclusion: Region 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.

• 出版日期2014-12