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Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
BACKGROUND: In order to facilitate the diagnostic process for adult patients suffering from a rare disease, the Undiagnosed Disease Program (UD-PrOZA) was founded in 2015 at the Ghent University Hospital in Belgium. In this study we report the five-year results of our multidisciplinary approach in r...
Autores principales: | , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9128245/ https://www.ncbi.nlm.nih.gov/pubmed/35606766 http://dx.doi.org/10.1186/s13023-022-02365-y |
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author | Schuermans, Nika Hemelsoet, Dimitri Terryn, Wim Steyaert, Sanne Van Coster, Rudy Coucke, Paul J. Steyaert, Wouter Callewaert, Bert Bogaert, Elke Verloo, Patrick Vanlander, Arnaud V. Debackere, Elke Ghijsels, Jody LeBlanc, Pontus Verdin, Hannah Naesens, Leslie Haerynck, Filomeen Callens, Steven Dermaut, Bart Poppe, Bruce |
author_facet | Schuermans, Nika Hemelsoet, Dimitri Terryn, Wim Steyaert, Sanne Van Coster, Rudy Coucke, Paul J. Steyaert, Wouter Callewaert, Bert Bogaert, Elke Verloo, Patrick Vanlander, Arnaud V. Debackere, Elke Ghijsels, Jody LeBlanc, Pontus Verdin, Hannah Naesens, Leslie Haerynck, Filomeen Callens, Steven Dermaut, Bart Poppe, Bruce |
author_sort | Schuermans, Nika |
collection | PubMed |
description | BACKGROUND: In order to facilitate the diagnostic process for adult patients suffering from a rare disease, the Undiagnosed Disease Program (UD-PrOZA) was founded in 2015 at the Ghent University Hospital in Belgium. In this study we report the five-year results of our multidisciplinary approach in rare disease diagnostics. METHODS: Patients referred by a healthcare provider, in which an underlying rare disease is likely, qualify for a UD-PrOZA evaluation. UD-PrOZA uses a multidisciplinary clinical approach combined with state-of-the-art genomic technologies in close collaboration with research facilities to diagnose patients. RESULTS: Between 2015 and 2020, 692 patients (94% adults) were referred of which 329 (48%) were accepted for evaluation. In 18% (60 of 329) of the cases a definite diagnosis was made. 88% (53 of 60) of the established diagnoses had a genetic origin. 65% (39 of 60) of the genetic diagnoses were made through whole exome sequencing (WES). The mean time interval between symptom-onset and diagnosis was 19 years. Key observations included novel genotype–phenotype correlations, new variants in known disease genes and the identification of three new disease genes. In 13% (7 of 53), identifying the molecular cause was associated with therapeutic recommendations and in 88% (53 of 60), gene specific genetic counseling was made possible. Actionable secondary findings were reported in 7% (12 of 177) of the patients in which WES was performed. CONCLUSION: UD-PrOZA offers an innovative interdisciplinary platform to diagnose rare diseases in adults with previously unexplained medical problems and to facilitate translational research. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-022-02365-y. |
format | Online Article Text |
id | pubmed-9128245 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-91282452022-05-25 Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) Schuermans, Nika Hemelsoet, Dimitri Terryn, Wim Steyaert, Sanne Van Coster, Rudy Coucke, Paul J. Steyaert, Wouter Callewaert, Bert Bogaert, Elke Verloo, Patrick Vanlander, Arnaud V. Debackere, Elke Ghijsels, Jody LeBlanc, Pontus Verdin, Hannah Naesens, Leslie Haerynck, Filomeen Callens, Steven Dermaut, Bart Poppe, Bruce Orphanet J Rare Dis Research BACKGROUND: In order to facilitate the diagnostic process for adult patients suffering from a rare disease, the Undiagnosed Disease Program (UD-PrOZA) was founded in 2015 at the Ghent University Hospital in Belgium. In this study we report the five-year results of our multidisciplinary approach in rare disease diagnostics. METHODS: Patients referred by a healthcare provider, in which an underlying rare disease is likely, qualify for a UD-PrOZA evaluation. UD-PrOZA uses a multidisciplinary clinical approach combined with state-of-the-art genomic technologies in close collaboration with research facilities to diagnose patients. RESULTS: Between 2015 and 2020, 692 patients (94% adults) were referred of which 329 (48%) were accepted for evaluation. In 18% (60 of 329) of the cases a definite diagnosis was made. 88% (53 of 60) of the established diagnoses had a genetic origin. 65% (39 of 60) of the genetic diagnoses were made through whole exome sequencing (WES). The mean time interval between symptom-onset and diagnosis was 19 years. Key observations included novel genotype–phenotype correlations, new variants in known disease genes and the identification of three new disease genes. In 13% (7 of 53), identifying the molecular cause was associated with therapeutic recommendations and in 88% (53 of 60), gene specific genetic counseling was made possible. Actionable secondary findings were reported in 7% (12 of 177) of the patients in which WES was performed. CONCLUSION: UD-PrOZA offers an innovative interdisciplinary platform to diagnose rare diseases in adults with previously unexplained medical problems and to facilitate translational research. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-022-02365-y. BioMed Central 2022-05-23 /pmc/articles/PMC9128245/ /pubmed/35606766 http://dx.doi.org/10.1186/s13023-022-02365-y Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Schuermans, Nika Hemelsoet, Dimitri Terryn, Wim Steyaert, Sanne Van Coster, Rudy Coucke, Paul J. Steyaert, Wouter Callewaert, Bert Bogaert, Elke Verloo, Patrick Vanlander, Arnaud V. Debackere, Elke Ghijsels, Jody LeBlanc, Pontus Verdin, Hannah Naesens, Leslie Haerynck, Filomeen Callens, Steven Dermaut, Bart Poppe, Bruce Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) |
title | Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) |
title_full | Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) |
title_fullStr | Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) |
title_full_unstemmed | Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) |
title_short | Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) |
title_sort | shortcutting the diagnostic odyssey: the multidisciplinary program for undiagnosed rare diseases in adults (ud-proza) |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9128245/ https://www.ncbi.nlm.nih.gov/pubmed/35606766 http://dx.doi.org/10.1186/s13023-022-02365-y |
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