Enhanced interpretation of newborn screening results without analyte cutoff values

Detalhes bibliográficos
Autor(a) principal: Marquardt, G.
Data de Publicação: 2012
Outros Autores: Currier, R., McHugh, D.M., Gavrilov, D., Magera, M.J., Matern, D., Oglesbee, D., Raymond, K., Rinaldo, P., Smith, E.H., Tortorelli, S., Turgeon, C.T., Lorey, F., Wilcken, B., Wiley, V., Greed, L.C., Lewis, B., Boemer, F., Schoos, R., Marie, S., Vincent, M.F., Sica, Y.C., Domingos, M.T., Al-Thihli, K., Sinclair, G., Al-Dirbashi, O.Y., Chakraborty, P., Dymerski, M., Porter, C., Manning, A., Seashore, M.R., Quesada, J., Reuben, A., Chrastina, P., Hornik, P., Atef Mandour, I., Atty Sharaf, S.A., Bodamer, O., Dy, B., Torres, J., Zori, R., Cheillan, D., Vianey-Saban, C., Ludvigson, D., Stembridge, A., Bonham, J., Downing, M., Dotsikas, Y., Loukas, Y.L., Papakonstantinou, V., Zacharioudakis, G.S., Baráth, Á., Karg, E., Franzson, L., Jonsson, J.J., Breen, N.N., Lesko, B.G., Berberich, S.L., Turner, K., Ruoppolo, M., Scolamiero, E., Antonozzi, I., Carducci, C., Caruso, U., Cassanello, M., la Marca, G., Pasquini, E., Di Gangi, I.M., Giordano, G., Camilot, M., Teofoli, F., Manos, S.M., Peterson, C.K., Mayfield Gibson, S.K., Sevier, D.W., Lee, S.Y., Park, H.D., Khneisser, I., Browning, P., Gulamali-Majid, F., Watson, M.S., Eaton, R.B., Sahai, I., Ruiz, C., Torres, R., Seeterlin, S.M.A., Stanley, E.L., Hietala, A., McCann, M., Campbell, C., Hopkins, P.V., de Sain-Van der Velden, M.G., Elvers, B., Morrissey, M.A., Sunny, S., Knoll, D., Webster, D., Frazier, D.M., McClure, J.D., Sesser, D.E., Willis, S.A., Rocha, H., Vilarinho, L., John, C., Lim, J., Caldwell, S.G., Tomashitis, K., Castiñeiras Ramos, D.E., Cocho de Juan, J.A., Rueda Fernández, I., Yahyaoui Macías, R., Egea-Mellado, J.M., González-Gallego, I., Delgado Pecellin, C., García-Valdecasas Bermejo, M.S., Chien, Y.H., Hwu, W.L., Childs, T., McKeever, C.D., Tanyalcin, T., Abdulrahman, M., Queijo, C., Lemes, A., Davis, T., Hoffman, W., Baker, M., Hoffman, G.L.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/2219
Resumo: 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%.
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spelling Enhanced interpretation of newborn screening results without analyte cutoff valuesNewborn ScreeningDoenças GenéticasPURPOSE: 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%.Nature Publishing GroupRepositório Científico do Instituto Nacional de SaúdeMarquardt, G.Currier, R.McHugh, D.M.Gavrilov, D.Magera, M.J.Matern, D.Oglesbee, D.Raymond, K.Rinaldo, P.Smith, E.H.Tortorelli, S.Turgeon, C.T.Lorey, F.Wilcken, B.Wiley, V.Greed, L.C.Lewis, B.Boemer, F.Schoos, R.Marie, S.Vincent, M.F.Sica, Y.C.Domingos, M.T.Al-Thihli, K.Sinclair, G.Al-Dirbashi, O.Y.Chakraborty, P.Dymerski, M.Porter, C.Manning, A.Seashore, M.R.Quesada, J.Reuben, A.Chrastina, P.Hornik, P.Atef Mandour, I.Atty Sharaf, S.A.Bodamer, O.Dy, B.Torres, J.Zori, R.Cheillan, D.Vianey-Saban, C.Ludvigson, D.Stembridge, A.Bonham, J.Downing, M.Dotsikas, Y.Loukas, Y.L.Papakonstantinou, V.Zacharioudakis, G.S.Baráth, Á.Karg, E.Franzson, L.Jonsson, J.J.Breen, N.N.Lesko, B.G.Berberich, S.L.Turner, K.Ruoppolo, M.Scolamiero, E.Antonozzi, I.Carducci, C.Caruso, U.Cassanello, M.la Marca, G.Pasquini, E.Di Gangi, I.M.Giordano, G.Camilot, M.Teofoli, F.Manos, S.M.Peterson, C.K.Mayfield Gibson, S.K.Sevier, D.W.Lee, S.Y.Park, H.D.Khneisser, I.Browning, P.Gulamali-Majid, F.Watson, M.S.Eaton, R.B.Sahai, I.Ruiz, C.Torres, R.Seeterlin, S.M.A.Stanley, E.L.Hietala, A.McCann, M.Campbell, C.Hopkins, P.V.de Sain-Van der Velden, M.G.Elvers, B.Morrissey, M.A.Sunny, S.Knoll, D.Webster, D.Frazier, D.M.McClure, J.D.Sesser, D.E.Willis, S.A.Rocha, H.Vilarinho, L.John, C.Lim, J.Caldwell, S.G.Tomashitis, K.Castiñeiras Ramos, D.E.Cocho de Juan, J.A.Rueda Fernández, I.Yahyaoui Macías, R.Egea-Mellado, J.M.González-Gallego, I.Delgado Pecellin, C.García-Valdecasas Bermejo, M.S.Chien, Y.H.Hwu, W.L.Childs, T.McKeever, C.D.Tanyalcin, T.Abdulrahman, M.Queijo, C.Lemes, A.Davis, T.Hoffman, W.Baker, M.Hoffman, G.L.2014-04-03T12:01:58Z2012-072012-07-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/2219engGenet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 161098-3600doi: 10.1038/gim.2012.2info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:38:32Zoai:repositorio.insa.pt:10400.18/2219Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:36:14.327930Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Enhanced interpretation of newborn screening results without analyte cutoff values
title Enhanced interpretation of newborn screening results without analyte cutoff values
spellingShingle Enhanced interpretation of newborn screening results without analyte cutoff values
Marquardt, G.
Newborn Screening
Doenças Genéticas
title_short Enhanced interpretation of newborn screening results without analyte cutoff values
title_full Enhanced interpretation of newborn screening results without analyte cutoff values
title_fullStr Enhanced interpretation of newborn screening results without analyte cutoff values
title_full_unstemmed Enhanced interpretation of newborn screening results without analyte cutoff values
title_sort Enhanced interpretation of newborn screening results without analyte cutoff values
author Marquardt, G.
author_facet Marquardt, G.
Currier, R.
McHugh, D.M.
Gavrilov, D.
Magera, M.J.
Matern, D.
Oglesbee, D.
Raymond, K.
Rinaldo, P.
Smith, E.H.
Tortorelli, S.
Turgeon, C.T.
Lorey, F.
Wilcken, B.
Wiley, V.
Greed, L.C.
Lewis, B.
Boemer, F.
Schoos, R.
Marie, S.
Vincent, M.F.
Sica, Y.C.
Domingos, M.T.
Al-Thihli, K.
Sinclair, G.
Al-Dirbashi, O.Y.
Chakraborty, P.
Dymerski, M.
Porter, C.
Manning, A.
Seashore, M.R.
Quesada, J.
Reuben, A.
Chrastina, P.
Hornik, P.
Atef Mandour, I.
Atty Sharaf, S.A.
Bodamer, O.
Dy, B.
Torres, J.
Zori, R.
Cheillan, D.
Vianey-Saban, C.
Ludvigson, D.
Stembridge, A.
Bonham, J.
Downing, M.
Dotsikas, Y.
Loukas, Y.L.
Papakonstantinou, V.
Zacharioudakis, G.S.
Baráth, Á.
Karg, E.
Franzson, L.
Jonsson, J.J.
Breen, N.N.
Lesko, B.G.
Berberich, S.L.
Turner, K.
Ruoppolo, M.
Scolamiero, E.
Antonozzi, I.
Carducci, C.
Caruso, U.
Cassanello, M.
la Marca, G.
Pasquini, E.
Di Gangi, I.M.
Giordano, G.
Camilot, M.
Teofoli, F.
Manos, S.M.
Peterson, C.K.
Mayfield Gibson, S.K.
Sevier, D.W.
Lee, S.Y.
Park, H.D.
Khneisser, I.
Browning, P.
Gulamali-Majid, F.
Watson, M.S.
Eaton, R.B.
Sahai, I.
Ruiz, C.
Torres, R.
Seeterlin, S.M.A.
Stanley, E.L.
Hietala, A.
McCann, M.
Campbell, C.
Hopkins, P.V.
de Sain-Van der Velden, M.G.
Elvers, B.
Morrissey, M.A.
Sunny, S.
Knoll, D.
Webster, D.
Frazier, D.M.
McClure, J.D.
Sesser, D.E.
Willis, S.A.
Rocha, H.
Vilarinho, L.
John, C.
Lim, J.
Caldwell, S.G.
Tomashitis, K.
Castiñeiras Ramos, D.E.
Cocho de Juan, J.A.
Rueda Fernández, I.
Yahyaoui Macías, R.
Egea-Mellado, J.M.
González-Gallego, I.
Delgado Pecellin, C.
García-Valdecasas Bermejo, M.S.
Chien, Y.H.
Hwu, W.L.
Childs, T.
McKeever, C.D.
Tanyalcin, T.
Abdulrahman, M.
Queijo, C.
Lemes, A.
Davis, T.
Hoffman, W.
Baker, M.
Hoffman, G.L.
author_role author
author2 Currier, R.
McHugh, D.M.
Gavrilov, D.
Magera, M.J.
Matern, D.
Oglesbee, D.
Raymond, K.
Rinaldo, P.
Smith, E.H.
Tortorelli, S.
Turgeon, C.T.
Lorey, F.
Wilcken, B.
Wiley, V.
Greed, L.C.
Lewis, B.
Boemer, F.
Schoos, R.
Marie, S.
Vincent, M.F.
Sica, Y.C.
Domingos, M.T.
Al-Thihli, K.
Sinclair, G.
Al-Dirbashi, O.Y.
Chakraborty, P.
Dymerski, M.
Porter, C.
Manning, A.
Seashore, M.R.
Quesada, J.
Reuben, A.
Chrastina, P.
Hornik, P.
Atef Mandour, I.
Atty Sharaf, S.A.
Bodamer, O.
Dy, B.
Torres, J.
Zori, R.
Cheillan, D.
Vianey-Saban, C.
Ludvigson, D.
Stembridge, A.
Bonham, J.
Downing, M.
Dotsikas, Y.
Loukas, Y.L.
Papakonstantinou, V.
Zacharioudakis, G.S.
Baráth, Á.
Karg, E.
Franzson, L.
Jonsson, J.J.
Breen, N.N.
Lesko, B.G.
Berberich, S.L.
Turner, K.
Ruoppolo, M.
Scolamiero, E.
Antonozzi, I.
Carducci, C.
Caruso, U.
Cassanello, M.
la Marca, G.
Pasquini, E.
Di Gangi, I.M.
Giordano, G.
Camilot, M.
Teofoli, F.
Manos, S.M.
Peterson, C.K.
Mayfield Gibson, S.K.
Sevier, D.W.
Lee, S.Y.
Park, H.D.
Khneisser, I.
Browning, P.
Gulamali-Majid, F.
Watson, M.S.
Eaton, R.B.
Sahai, I.
Ruiz, C.
Torres, R.
Seeterlin, S.M.A.
Stanley, E.L.
Hietala, A.
McCann, M.
Campbell, C.
Hopkins, P.V.
de Sain-Van der Velden, M.G.
Elvers, B.
Morrissey, M.A.
Sunny, S.
Knoll, D.
Webster, D.
Frazier, D.M.
McClure, J.D.
Sesser, D.E.
Willis, S.A.
Rocha, H.
Vilarinho, L.
John, C.
Lim, J.
Caldwell, S.G.
Tomashitis, K.
Castiñeiras Ramos, D.E.
Cocho de Juan, J.A.
Rueda Fernández, I.
Yahyaoui Macías, R.
Egea-Mellado, J.M.
González-Gallego, I.
Delgado Pecellin, C.
García-Valdecasas Bermejo, M.S.
Chien, Y.H.
Hwu, W.L.
Childs, T.
McKeever, C.D.
Tanyalcin, T.
Abdulrahman, M.
Queijo, C.
Lemes, A.
Davis, T.
Hoffman, W.
Baker, M.
Hoffman, G.L.
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dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Marquardt, G.
Currier, R.
McHugh, D.M.
Gavrilov, D.
Magera, M.J.
Matern, D.
Oglesbee, D.
Raymond, K.
Rinaldo, P.
Smith, E.H.
Tortorelli, S.
Turgeon, C.T.
Lorey, F.
Wilcken, B.
Wiley, V.
Greed, L.C.
Lewis, B.
Boemer, F.
Schoos, R.
Marie, S.
Vincent, M.F.
Sica, Y.C.
Domingos, M.T.
Al-Thihli, K.
Sinclair, G.
Al-Dirbashi, O.Y.
Chakraborty, P.
Dymerski, M.
Porter, C.
Manning, A.
Seashore, M.R.
Quesada, J.
Reuben, A.
Chrastina, P.
Hornik, P.
Atef Mandour, I.
Atty Sharaf, S.A.
Bodamer, O.
Dy, B.
Torres, J.
Zori, R.
Cheillan, D.
Vianey-Saban, C.
Ludvigson, D.
Stembridge, A.
Bonham, J.
Downing, M.
Dotsikas, Y.
Loukas, Y.L.
Papakonstantinou, V.
Zacharioudakis, G.S.
Baráth, Á.
Karg, E.
Franzson, L.
Jonsson, J.J.
Breen, N.N.
Lesko, B.G.
Berberich, S.L.
Turner, K.
Ruoppolo, M.
Scolamiero, E.
Antonozzi, I.
Carducci, C.
Caruso, U.
Cassanello, M.
la Marca, G.
Pasquini, E.
Di Gangi, I.M.
Giordano, G.
Camilot, M.
Teofoli, F.
Manos, S.M.
Peterson, C.K.
Mayfield Gibson, S.K.
Sevier, D.W.
Lee, S.Y.
Park, H.D.
Khneisser, I.
Browning, P.
Gulamali-Majid, F.
Watson, M.S.
Eaton, R.B.
Sahai, I.
Ruiz, C.
Torres, R.
Seeterlin, S.M.A.
Stanley, E.L.
Hietala, A.
McCann, M.
Campbell, C.
Hopkins, P.V.
de Sain-Van der Velden, M.G.
Elvers, B.
Morrissey, M.A.
Sunny, S.
Knoll, D.
Webster, D.
Frazier, D.M.
McClure, J.D.
Sesser, D.E.
Willis, S.A.
Rocha, H.
Vilarinho, L.
John, C.
Lim, J.
Caldwell, S.G.
Tomashitis, K.
Castiñeiras Ramos, D.E.
Cocho de Juan, J.A.
Rueda Fernández, I.
Yahyaoui Macías, R.
Egea-Mellado, J.M.
González-Gallego, I.
Delgado Pecellin, C.
García-Valdecasas Bermejo, M.S.
Chien, Y.H.
Hwu, W.L.
Childs, T.
McKeever, C.D.
Tanyalcin, T.
Abdulrahman, M.
Queijo, C.
Lemes, A.
Davis, T.
Hoffman, W.
Baker, M.
Hoffman, G.L.
dc.subject.por.fl_str_mv Newborn Screening
Doenças Genéticas
topic Newborn Screening
Doenças Genéticas
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%.
publishDate 2012
dc.date.none.fl_str_mv 2012-07
2012-07-01T00:00:00Z
2014-04-03T12:01:58Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/2219
url http://hdl.handle.net/10400.18/2219
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Genet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16
1098-3600
doi: 10.1038/gim.2012.2
dc.rights.driver.fl_str_mv info:eu-repo/semantics/embargoedAccess
eu_rights_str_mv embargoedAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Nature Publishing Group
publisher.none.fl_str_mv Nature Publishing Group
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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