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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Enhanced interpretation of newborn screening results without analyte cutoff values
Genetics in Medicine, Volume 14, No. 7, Year 2012
Notification
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Description
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.
Authors & Co-Authors
Marquardt, Gregg
United States, Rochester
Mayo Medical School
Currier, Robert J.
United States, Richmond
California Department of Public Heath
McHugh, David M.S.
United States, Rochester
Mayo Medical School
Gavrilov, Dimitar
United States, Rochester
Mayo Medical School
Magera, Mark J.
United States, Rochester
Mayo Medical School
Matern, Dietrich
United States, Rochester
Mayo Medical School
Oglesbee, Devin
United States, Rochester
Mayo Medical School
Raymond, Kimiyo M.
United States, Rochester
Mayo Medical School
Rinaldo, Piero
United States, Rochester
Mayo Medical School
Smith, Emily H.
United States, Rochester
Mayo Medical School
Tortorelli, Silvia
United States, Rochester
Mayo Medical School
Turgeon, Coleman T.
United States, Rochester
Mayo Medical School
Lorey, Fred
United States, Richmond
California Department of Public Heath
Wilcken, Bridget M.
Australia, Sydney
The Children's Hospital at Westmead
Wiley, Veronica
Australia, Sydney
The Children's Hospital at Westmead
Greed, Lawrence C.
Australia, Perth
Princess Margaret Hospital for Children
Lewis, Barry
Australia, Perth
Princess Margaret Hospital for Children
Boemer, François
Belgium, Liege
Centre Hospitalier Universitaire de Liege
Schoos, Roland
Belgium, Liege
Centre Hospitalier Universitaire de Liege
Marie, Sandrine
Belgium, Brussels
Cliniques Universitaires Saint-luc
Vincent, Marie Françoise
Belgium, Brussels
Cliniques Universitaires Saint-luc
Sica, Yuri Cleverthon
Brazil, Curitiba
Fundação Ecumênica de Proteção ao Excepcional
Domingos, Mouseline Torquado
Brazil, Curitiba
Fundação Ecumênica de Proteção ao Excepcional
Al-Thihli, Khalid A.
Canada, Vancouver
Children's and Women's Health Centre of British Columbia
Sinclair, Graham
Canada, Vancouver
Children's and Women's Health Centre of British Columbia
Al-Dirbashi, Osama Y.
Canada, Ottawa
Children's Hospital of Eastern Ontario, Ottawa
Chakraborty, Pranesh K.
Canada, Ottawa
Children's Hospital of Eastern Ontario, Ottawa
Dymerski, Mark
United States, Denver
Colorado Department of Public Health and Environment
Porter, Cory
United States, Denver
Colorado Department of Public Health and Environment
Manning, Adrienne
United States, Hartford
Connecticut Department of Public Health
Seashore, Margretta R.
United States, New Haven
Yale School of Medicine
Quesada, Jonessy
Costa Rica, San Jose
Hospital Nacional de Niños Dr. Carlos Sáenz Herrera
Reuben, Alejandra
Costa Rica, San Jose
Hospital Nacional de Niños Dr. Carlos Sáenz Herrera
Chrastina, Petr
Czech Republic, Prague
Univerzita Karlova, Ústav Dědičných Metabolických Poruch
Hornik, Petr
Czech Republic, Prague
Univerzita Karlova, Ústav Dědičných Metabolických Poruch
Mandour, Iman A.
Egypt, Cairo
Faculty of Medicine
Sharaf, Sahar A.
Egypt, Cairo
Faculty of Medicine
Bodamer, Olaf A.F.
United States, Miami
University of Miami Leonard M. Miller School of Medicine
Dy, Bonifacio
United States, Jacksonville
Florida Newborn Screening Program
Torres, Jasmin
United States, Jacksonville
Florida Newborn Screening Program
Zori, Roberto
United States, Gainesville
University of Florida
Cheillan, David
France, Lyon
Chu de Lyon
Vianey-Saban, Christine
France, Lyon
Chu de Lyon
Ludvigson, David
United States, Atlanta
Georgia Department of Public Health
Stembridge, Adrya
United States, Atlanta
Emory University
Bonham, Jim
United Kingdom, Sheffield
Sheffield Children's Nhs Foundation Trust
Downing, Melanie
United Kingdom, Sheffield
Sheffield Children's Nhs Foundation Trust
Dotsikas, Yannis
Greece, Athens
National and Kapodistrian University of Athens
Loukas, Yannis L.
Greece, Athens
National and Kapodistrian University of Athens
Papakonstantinou, Vagelis
Greece, Athens
Neolab S.a.
Zacharioudakis, Georgios S.A.
Greece, Athens
Neolab S.a.
Baráth, Kos
Hungary, Szeged
Szegedi Tudományegyetem Szte
Karg, Eszter
Hungary, Szeged
Szegedi Tudományegyetem Szte
Franzson, Leifur
Iceland, Reykjavik
Haskoli Islands
Jonsson, Jon J.
Iceland, Reykjavik
Haskoli Islands
Breen, Nancy N.
United States, Indianapolis
Indiana Newborn Screening Laboratory
Lesko, Barbara G.
United States, Indianapolis
Indiana Newborn Screening Laboratory
Berberich, Stanton L.
United States, Coralville
State Hygienic Laboratory
Turner, Kimberley
United States, Iowa City
University of Iowa Stead Family Children’s Hospital
Ruoppolo, Margherita
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Scolamiero, Emanuela
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Antonozzi, Italo
Italy, Rome
Sapienza Università Di Roma
Carducci, Claudia
Italy, Rome
Sapienza Università Di Roma
Caruso, Ubaldo
Italy, Genoa
Istituto Giannina Gaslini
Cassanello, Michela
Italy, Genoa
Istituto Giannina Gaslini
La Marca, Giancarlo
Italy, Florence
Università Degli Studi Di Firenze
Pasquini, Elisabetta
Italy, Florence
Azienda Ospedaliero-universitaria Meyer
Di Gangi, Iole Maria
Italy, Padua
Università Degli Studi Di Padova
Giordano, Giuseppe
Italy, Padua
Università Degli Studi Di Padova
Camilot, Marta
Italy, Verona
Azienda Ospedaliera Universitaria Integrata Verona
Teofoli, Francesca
Italy, Verona
Azienda Ospedaliera Universitaria Integrata Verona
Manos, Shawn M.
United States, Topeka
Education, Kansas Dept of
Peterson, Colleen K.
United States, Topeka
Education, Kansas Dept of
Mayfield Gibson, Stephanie K.
United States, Frankfort
Kentucky Department for Public Health
Sevier, Darrin W.
United States, Frankfort
Kentucky Department for Public Health
Lee, Soo-youn
South Korea, Suwon
Skku School of Medicine
Park, Hyung Doo
South Korea, Suwon
Skku School of Medicine
Khneisser, Issam
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Browning, Phaidra
United States, New Orleans
Tulane University
Gulamali-Majid, Fizza
Unknown Affiliation
Watson, Michael S.
United States, Bethesda
American College of Medical Genetics
Eaton, Roger B.
United States, Boston
New England Newborn Screening Program
Sahai, Inderneel
United States, Boston
New England Newborn Screening Program
Ruiz, Consuelo
Mexico, San Nicolas de Los Garza
Universidad Autónoma de Nuevo León
Torres, Rosario
Mexico, San Nicolas de Los Garza
Universidad Autónoma de Nuevo León
Seeterlin, Mary A.
United States, Lansing
Michigan Department of Community Health
Stanley, Eleanor L.
United States, Lansing
Michigan Department of Community Health
Hietala, Amy
United States, Saint Paul
Minnesota Department of Health
McCann, Mark
United States, Saint Paul
Minnesota Department of Health
Campbell, Carlene
United States, Jefferson City
Missouri State Public Health Laboratory
Hopkins, Patrick V.
United States, Jefferson City
Missouri State Public Health Laboratory
De Sain-Van Der Velden, Monique G.
Netherlands, Utrecht
University Medical Center Utrecht
Elvers, Bert
Netherlands, Bilthoven
Rijksinstituut Voor Volksgezondheid en Milieu
Morrissey, Mark A.
United States, Albany
Wadsworth Center for Laboratories and Research
Sunny, Sherlykutty
United States, Albany
Wadsworth Center for Laboratories and Research
Knoll, Detlef
New Zealand, Auckland
Labplus
Webster, D. R.
New Zealand, Auckland
Labplus
Frazier, Dianne M.
United States, Chapel Hill
The University of North Carolina at Chapel Hill
McClure, Julie D.
United States, Chapel Hill
The University of North Carolina at Chapel Hill
Sesser, David E.
United States, Hillsboro
Oregon State Public Health Laboratory
Statistics
Citations: 115
Authors: 100
Affiliations: 53
Identifiers
Doi:
10.1038/gim.2012.2
e-ISSN:
15300366
Research Areas
Cancer
Genetics And Genomics
Study Design
Cohort Study