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Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Nika Schuermans (UGent) , Dimitri Hemelsoet (UGent) , Wim Terryn, Sanne Steyaert (UGent) , Rudy Van Coster (UGent) , Paul Coucke (UGent) , Wouter Steyaert, Bert Callewaert (UGent) , Elke Bogaert (UGent) , PATRICK VERLOO (UGent) , et al.
(2022) ORPHANET JOURNAL OF RARE DISEASES. 17(1).
Author
Organization
Project
Abstract
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.
Keywords
Pharmacology (medical), Genetics (clinical), General Medicine, Rare diseases, UD-PrOZA, Diagnostic odyssey, Whole exome sequencing, Diagnostic yield, SGO1, SNORD118, IRF2BPL, PLAAT3, ACMSD

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MLA
Schuermans, Nika, et al. “Shortcutting the Diagnostic Odyssey : The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA).” ORPHANET JOURNAL OF RARE DISEASES, vol. 17, no. 1, 2022, doi:10.1186/s13023-022-02365-y.
APA
Schuermans, N., Hemelsoet, D., Terryn, W., Steyaert, S., Van Coster, R., Coucke, P., … for UD-PrOZA, [missing]. (2022). Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA). ORPHANET JOURNAL OF RARE DISEASES, 17(1). https://doi.org/10.1186/s13023-022-02365-y
Chicago author-date
Schuermans, Nika, Dimitri Hemelsoet, Wim Terryn, Sanne Steyaert, Rudy Van Coster, Paul Coucke, Wouter Steyaert, et al. 2022. “Shortcutting the Diagnostic Odyssey : The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA).” ORPHANET JOURNAL OF RARE DISEASES 17 (1). https://doi.org/10.1186/s13023-022-02365-y.
Chicago author-date (all authors)
Schuermans, Nika, Dimitri Hemelsoet, Wim Terryn, Sanne Steyaert, Rudy Van Coster, Paul Coucke, Wouter Steyaert, Bert Callewaert, Elke Bogaert, PATRICK VERLOO, Arnaud Vanlander, Elke Debackere, Jody Ghijsels, Pontus LeBlanc, Hannah Verdin, Leslie Naesens, Filomeen Haerynck, Steven Callens, Bart Dermaut, Bruce Poppe, Jan De Bleecker, Patrick Santens, Paul Boon, Guy Laureys, Tessa Kerre, and [missing] for UD-PrOZA. 2022. “Shortcutting the Diagnostic Odyssey : The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA).” ORPHANET JOURNAL OF RARE DISEASES 17 (1). doi:10.1186/s13023-022-02365-y.
Vancouver
1.
Schuermans N, Hemelsoet D, Terryn W, Steyaert S, Van Coster R, Coucke P, et al. Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA). ORPHANET JOURNAL OF RARE DISEASES. 2022;17(1).
IEEE
[1]
N. Schuermans et al., “Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA),” ORPHANET JOURNAL OF RARE DISEASES, vol. 17, no. 1, 2022.
@article{8754351,
  abstract     = {{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.}},
  articleno    = {{210}},
  author       = {{Schuermans, Nika and Hemelsoet, Dimitri and Terryn, Wim and Steyaert, Sanne and Van Coster, Rudy and Coucke, Paul and Steyaert, Wouter and Callewaert, Bert and Bogaert, Elke and VERLOO, PATRICK and Vanlander, Arnaud and Debackere, Elke and Ghijsels, Jody and LeBlanc, Pontus and Verdin, Hannah and Naesens, Leslie and Haerynck, Filomeen and Callens, Steven and Dermaut, Bart and Poppe, Bruce and De Bleecker, Jan and Santens, Patrick and Boon, Paul and Laureys, Guy and Kerre, Tessa and for UD-PrOZA, [missing]}},
  issn         = {{1750-1172}},
  journal      = {{ORPHANET JOURNAL OF RARE DISEASES}},
  keywords     = {{Pharmacology (medical),Genetics (clinical),General Medicine,Rare diseases,UD-PrOZA,Diagnostic odyssey,Whole exome sequencing,Diagnostic yield,SGO1,SNORD118,IRF2BPL,PLAAT3,ACMSD}},
  language     = {{eng}},
  number       = {{1}},
  pages        = {{13}},
  title        = {{Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)}},
  url          = {{http://doi.org/10.1186/s13023-022-02365-y}},
  volume       = {{17}},
  year         = {{2022}},
}
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