A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders

Overview

Journal Int J Neonatal Screen

Date 2020 Aug 18

PMID 32802993

Citations 14

Authors

Karen A Sanders

Dimitar K Gavrilov

Devin Oglesbee

Kimiyo M Raymond

Silvia Tortorelli

John J Hopwood

Fred Lorey

Ramanath Majumdar

Charles A Kroll

Amber M McDonald

Jean M Lacey

Coleman T Turgeon

Justin N Tucker

Hao Tang

Robert Currier

Grazia Isaya

Piero Rinaldo

Dietrich Matern

Affiliations

Soon will be listed here.

Abstract

Newborn screening for one or more lysosomal disorders has been implemented in several US states, Japan and Taiwan by multiplexed enzyme assays using either tandem mass spectrometry or digital microfluidics. Another multiplex assay making use of immunocapture technology has also been proposed. To investigate the potential variability in performance of these analytical approaches, we implemented three high-throughput screening assays for the simultaneous screening for four lysosomal disorders: Fabry disease, Gaucher disease, mucopolysaccharidosis type I, and Pompe disease. These assays were tested in a prospective comparative effectiveness study using nearly 100,000 residual newborn dried blood spot specimens. In addition, 2nd tier enzyme assays and confirmatory molecular genetic testing were employed. Post-analytical interpretive tools were created using the software Collaborative Laboratory Integrated Reports (CLIR) to determine its ability to improve the performance of each assay vs. the traditional result interpretation based on analyte-specific reference ranges and cutoffs. This study showed that all three platforms have high sensitivity, and the application of CLIR tools markedly improves the performance of each platform while reducing the need for 2nd tier testing by 66% to 95%. Moreover, the addition of disease-specific biochemical 2nd tier tests ensures the lowest false positive rates and the highest positive predictive values for any platform.

Citing Articles

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Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses.

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Newborn Screening for Fabry Disease: Current Status of Knowledge.

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Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories.

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References

Hopkins P, Campbell C, Klug T, Rogers S, Raburn-Miller J, Kiesling J . Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri. J Pediatr. 2014; 166(1):172-7. DOI: 10.1016/j.jpeds.2014.09.023. View

Wasserstein M, Andriola M, Arnold G, Aron A, Duffner P, Erbe R . Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State. Genet Med. 2016; 18(12):1235-1243. DOI: 10.1038/gim.2016.35. View

Parkinson-Lawrence E, Fuller M, Hopwood J, Meikle P, Brooks D . Immunochemistry of lysosomal storage disorders. Clin Chem. 2006; 52(9):1660-8. DOI: 10.1373/clinchem.2005.064915. View

Tortorelli S, Turgeon C, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P . Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry. Clin Chem. 2016; 62(9):1248-54. DOI: 10.1373/clinchem.2016.256255. View

Burton B, Charrow J, Hoganson G, Waggoner D, Tinkle B, Braddock S . Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience. J Pediatr. 2017; 190:130-135. DOI: 10.1016/j.jpeds.2017.06.048. View

Hall P, Sanchez R, Hagar A, Jerris S, Wittenauer A, Wilcox W . Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction. Int J Neonatal Screen. 2020; 6(1). PMC: 7021244. DOI: 10.3390/ijns6010002. View

Lin S, Lin H, Wang T, Chang C, Lin C, Huang S . A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan. Orphanet J Rare Dis. 2013; 8:147. PMC: 3849552. DOI: 10.1186/1750-1172-8-147. View

Kemper A, Hwu W, Lloyd-Puryear M, Kishnani P . Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations. Pediatrics. 2007; 120(5):e1327-34. DOI: 10.1542/peds.2007-0388. View

McHugh D, Cameron C, Abdenur J, Abdulrahman M, Adair O, Al Nuaimi S . Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med. 2011; 13(3):230-54. DOI: 10.1097/GIM.0b013e31820d5e67. View

10.

Marquardt G, Currier R, McHugh D, Gavrilov D, Magera M, Matern D . Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med. 2012; 14(7):648-55. DOI: 10.1038/gim.2012.2. View

11.

Fuller M, Tucker J, Lang D, Dean C, Fietz M, Meikle P . Screening patients referred to a metabolic clinic for lysosomal storage disorders. J Med Genet. 2011; 48(6):422-5. DOI: 10.1136/jmg.2010.088096. View

12.

Peck D, Lacey J, White A, Pino G, Studinski A, Fisher R . Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I. Int J Neonatal Screen. 2020; 6(1):10. PMC: 7422968. DOI: 10.3390/ijns6010010. View

13.

Matern D, Oglesbee D, Tortorelli S . Newborn screening for lysosomal storage disorders and other neuronopathic conditions. Dev Disabil Res Rev. 2013; 17(3):247-53. PMC: 3902890. DOI: 10.1002/ddrr.1117. View

14.

Yang C, Yang C, Liao H, Huang L, Chiang C, Ho H . Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes. J Pediatr. 2015; 169:174-80.e1. DOI: 10.1016/j.jpeds.2015.10.078. View

15.

Millington D, Bali D . Misinformation regarding tandem mass spectrometric vs fluorometric assays to screen newborns for LSDs. Mol Genet Metab Rep. 2017; 11:72-73. PMC: 5429225. DOI: 10.1016/j.ymgmr.2017.04.009. View

16.

Wasserstein M, Caggana M, Bailey S, Desnick R, Edelmann L, Estrella L . The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants. Genet Med. 2018; 21(3):631-640. PMC: 6369014. DOI: 10.1038/s41436-018-0129-y. View

17.

Meikle P, Grasby D, Dean C, Lang D, Bockmann M, Whittle A . Newborn screening for lysosomal storage disorders. Mol Genet Metab. 2006; 88(4):307-14. DOI: 10.1016/j.ymgme.2006.02.013. View

18.

Tortorelli S, Eckerman J, Orsini J, Stevens C, Hart J, Hall P . Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease. Genet Med. 2017; 20(8):840-846. DOI: 10.1038/gim.2017.190. View

19.

Hwu W, Chien Y, Lee N, Chiang S, Dobrovolny R, Huang A . Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum Mutat. 2009; 30(10):1397-405. PMC: 2769558. DOI: 10.1002/humu.21074. View

20.

Tang H, Feuchtbaum L, Sciortino S, Matteson J, Mathur D, Bishop T . The First Year Experience of Newborn Screening for Pompe Disease in California. Int J Neonatal Screen. 2020; 6(1):9. PMC: 7422988. DOI: 10.3390/ijns6010009. View