@article{3111100,
    title = "Enhanced interpretation of newborn screening results without analyte cutoff values",
    author = "Marquardt, G. and Currier, R. and McHugh, D.M.S. and Gavrilov, D. and Magera, M.J. and Matern, D. and Oglesbee, D. and Raymond, K. and Rinaldo, P. and Smith, E.H. and Tortorelli, S. and Turgeon, C.T. and Lorey, F. and Wilcken, B. and Wiley, V. and Greed, L.C. and Lewis, B. and Boemer, F. and Schoos, R. and Marie, S. and Vincent, M.-F. and Sica, Y.C. and Domingos, M.T. and Al-Thihli, K. and Sinclair, G. and Al-Dirbashi, O.Y. and Chakraborty, P. and Dymerski, M. and Porter, C. and Manning, A. and Seashore, M.R. and Quesada, J. and Reuben, A. and Chrastina, P. and Hornik, P. and Atef Mandour, I. and Atty Sharaf, S.A. and Bodamer, O. and Dy, B. and Torres, J. and Zori, R. and Cheillan, D. and Vianey-Saban, C. and Ludvigson, D. and Stembridge, A. and Bonham, J. and Downing, M. and Dotsikas, Y. and Loukas, Y.L. and Papakonstantinou, V. and Zacharioudakis, G.S.A. and Baráth, K. and Karg, E. and Franzson, L. and Jonsson, J.J. and Breen, N.N. and Lesko, B.G. and Berberich, S.L. and Turner, K. and Ruoppolo, M. and Scolamiero, E. and Antonozzi, I. and Carducci, C. and Caruso, U. and Cassanello, M. and La Marca, G. and Pasquini, E. and Di Gangi, I.M. and Giordano, G. and Camilot, M. and Teofoli, F. and Manos, S.M. and Peterson, C.K. and Mayfield Gibson, S.K. and Sevier, D.W. and Lee, S.-Y. and Park, H.-D. and Khneisser, I. and Browning, P. and Gulamali-Majid, F. and Watson, M.S. and Eaton, R.B. and Sahai, I. and Ruiz, C. and Torres, R. and Seeterlin, M.A. and Stanley, E.L. and Hietala, A. and McCann, M. and Campbell, C. and Hopkins, P.V. and De Sain-Van Der Velden, M.G. and Elvers, B. and Morrissey, M.A. and Sunny, S. and Knoll, D. and Webster, D. and Frazier, D.M. and McClure, J.D. and Sesser, D.E. and Willis, S.A. and Rocha, H. and Vilarinho, L. and John, C. and Lim, J. and Caldwell, S.G. and Tomashitis, K. and Castĩeiras Ramos, D.E. and Cocho De Juan, J.A. and Rueda Fernández, I. and Yahyaoui MacÍas, R. and Egea-Mellado, J.M. and González-Gallego, I. and Delgado Pecellin, C. and García-Valdecasas Bermejo, M.S. and Chien, Y.-H. and Hwu, W.-L. and Childs, T. and McKeever, C.D. and Tanyalcin, T. and Abdulrahman, M. and Queijo, C. and Lemes, A. and Davis, T. and Hoffman, W. and Mei, B. and Hoffman, G.L.",
    journal = "Genetics in Medicine",
    year = "2012",
    volume = "14",
    number = "7",
    pages = "648-655",
    issn = "1098-3600, 1530-0366",
    doi = "10.1038/gim.2012.2",
    keywords = "argininosuccinic aciduria;  article;  controlled study;  false negative result;  false positive result;  fatty acid oxidation;  health care quality;  human;  laboratory test;  metabolic disorder;  newborn;  newborn screening;  retrospective study;  scoring system;  tandem mass spectrometry, Computational Biology;  Data Interpretation, Statistical;  Databases, Factual;  Diagnosis, Differential;  False Positive Reactions;  Humans;  Infant, Newborn;  International Cooperation;  Metabolome;  Minnesota;  Multivariate Analysis;  Neonatal Screening;  Pattern Recognition, Automated;  Predictive Value of Tests;  Retrospective Studies;  Software;  Tandem Mass Spectrometry",
    abstract = "Purpose: To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries. Methods: A database of 767,464 results from 12,721 cases affected with 60 conditions was used to build multivariate pattern recognition software that generates tools integrating multiple clinically significant results into a single score. This score is determined by the overlap between normal and disease ranges, penetration within the disease range, differences between conditions, and weighted correction factors. Results: Ninety tools target either a single condition or the differential diagnosis between multiple conditions. Scores are expressed as the percentile rank among all cases with the same condition and are compared to interpretation guidelines. Retrospective evaluation of past cases suggests that these tools could have avoided at least half of 279 false-positive outcomes caused by carrier status for fatty-acid oxidation disorders and could have prevented 88% of known false-negative events. Conclusion: Application of this computational approach to raw data is independent from single analyte cutoff values. In Minnesota, the tools have been a major contributing factor to the sustained achievement of a false-positive rate below 0.1% and a positive predictive value above 60%. © 2012 American College of Medical Genetics and Genomics."
}