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Enhanced interpretation of newborn screening results without analyte cutoff values

2012; Elsevier BV; Volume: 14; Issue: 7 Linguagem: Inglês

10.1038/gim.2012.2

1530-0366

Gregg Marquardt, Robert J. Currier, David McHugh, Dimitar Gavrilov, Mark J Magera, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Emily H. Smith, Silvia Tortorelli, Coleman Turgeon, Fred Lorey, Bridget Wilcken, Veronica Wiley, Lawrence Greed, Barry Lewis, François Boemer, Roland Schoos, Sandrine Marie, Marie‐Françoise Vincent, Yuri Cleverthon Sica, Mouseline Torquado Domingos, Khalid Al‐Thihli, Graham Sinclair, Osama Y. Al-Dirbashi, Pranesh Chakraborty, Mark Dymerski, Cory Porter, Adrienne Manning, Margretta R. Seashore, Jonessy Quesada, Alejandra Reuben, Petr Chrastina, Petr Horník, Iman Mandour, Sahar Sharaf, Olaf A. Bodamer, Bonifacio Dy, Jasmin Torres, Roberto Zori, David Cheillan, Christine Vianey‐Saban, David Ludvigson, Adrya Stembridge, Jim Bonham, Melanie Downing, Yannis Dotsikas, Yannis L. Loukas, Vagelis Papakonstantinou, Georgios S.A. Zacharioudakis, Ákos Baráth, Eszter Karg, Leifur Franzson, Jón J. Jónsson, Nancy N. Breen, Barbara G. Lesko, Stanton L. Berberich, Kimberley Turner, Margherita Ruoppolo, Emanuela Scolamiero, I. Antonozzi, Claudia Carducci, Ubaldo Caruso, Michela Cassanello, Giancarlo la Marca, Elisabetta Pasquini, Iole Maria Di Gangi, Giuseppe Giordano, Marta Camilot, Francesca Teofoli, Shawn Manos, Colleen K. Peterson, Stephanie K. Mayfield Gibson, Darrin W. Sevier, Soo‐Youn Lee, Hyung‐Doo Park, Issam Khneisser, Phaidra Browning, Fizza Gulamali-Majid, Michael S. Watson, Roger B. Eaton, Inderneel Sahai, Consuelo Ruiz, Rosário Torres, Mary Seeterlin, Eleanor Stanley, Amy Hietala, Mark McCann, Carlene Campbell, Patrick V. Hopkins, Monique G. de Sain-van der Velden, Bert Elvers, Mark A. Morrissey, Sherlykutty Sunny, Detlef Knoll, Dianne Webster, Dianne M. Frazier, Julie McClure, David E. Sesser, Sharon Willis, Hugo Rocha, Laura Vilarinho, Catharine John, James Lim, S. Graham Caldwell, Kathy Tomashitis, Daisy E. Castiñeiras Ramos, José Ángel Cocho de Juan, Inmaculada Rueda Fernández, Raquel Yahyaoui, José María Egea-Mellado, Inmaculada González-Gallego, Carmen Delgado Pecellín, Maria Sierra García-Valdecasas Bermejo, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Thomas A. Childs, Christine D. McKeever, Tijen Tanyalçın, Mahera Abdulrahman, Cecilia Queijo, Aída Lemes, Tim D. Davis, William H. Hoffman, Mei W. Baker, Gary Hoffman,

Mitochondrial Function and Pathology

PurposeTo improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries.MethodsA 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.ResultsNinety 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.ConclusionApplication 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%.Genet Med advance online publication 16 February 2012