Using the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi Score in a Real-World Dataset
Early and accurate diagnosis of Gaucher disease, a rare, autosomal recessive condition characterized by hepatosplenomegaly, thrombocytopenia, and anemia, is essential to facilitate earlier decision-making and prevent unnecessary tests and procedures. However, diagnosis can be challenging for non-spe...
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| Format: | Article |
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MDPI AG
2022-09-01
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| Series: | International Journal of Translational Medicine |
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| Online Access: | https://www.mdpi.com/2673-8937/2/3/37 |
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| author | Shoshana Revel-Vilk Gabriel Chodick Varda Shalev Roni Lotan Kaja Zarakowska Noga Gadir |
| author_facet | Shoshana Revel-Vilk Gabriel Chodick Varda Shalev Roni Lotan Kaja Zarakowska Noga Gadir |
| author_sort | Shoshana Revel-Vilk |
| collection | DOAJ |
| description | Early and accurate diagnosis of Gaucher disease, a rare, autosomal recessive condition characterized by hepatosplenomegaly, thrombocytopenia, and anemia, is essential to facilitate earlier decision-making and prevent unnecessary tests and procedures. However, diagnosis can be challenging for non-specialists, owing to a wide variability in age, severity of disease, and types of clinical manifestation. The Gaucher Earlier Diagnosis Consensus (GED-C) scoring system was developed by a panel of 22 expert physicians using Delphi methodology on the signs and covariables considered important for diagnosing Gaucher disease. This study aimed to use the scoring system in a real-world dataset. We applied the GED-C scoring system to 265 confirmed cases of Gaucher disease identified in the Maccabi Health Services (MHS) database from 1998 to 2022. Overall Delphi scores were calculated using features applicable to type 1 Gaucher disease. Based on all available patient data up to one year after diagnosis, the median (interquartile range (IQR)) Delphi score was 8.0 (5.5–11.5), with patients reporting up to 15 variables each. A score of 9.5 (6.5–12.5) was determined for 205 patients diagnosed from 2000 to 2022. The overall GED-C score was highly dependent on the extraction of all relevant data. The number of features collected in the MHS database was fewer than those required to achieve a high score on the GED-C score. |
| first_indexed | 2024-03-09T23:40:43Z |
| format | Article |
| id | doaj.art-3c31ef60512e4b2b8cc6c110c636c790 |
| institution | Directory Open Access Journal |
| issn | 2673-8937 |
| language | English |
| last_indexed | 2024-03-09T23:40:43Z |
| publishDate | 2022-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Translational Medicine |
| spelling | doaj.art-3c31ef60512e4b2b8cc6c110c636c7902023-11-23T16:52:22ZengMDPI AGInternational Journal of Translational Medicine2673-89372022-09-012350651410.3390/ijtm2030037Using the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi Score in a Real-World DatasetShoshana Revel-Vilk0Gabriel Chodick1Varda Shalev2Roni Lotan3Kaja Zarakowska4Noga Gadir5Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, IsraelMaccabiTech, Tel Aviv 68125, IsraelSackler School of Medicine Tel Aviv University, Tel Aviv 6997801, IsraelMaccabiTech, Tel Aviv 68125, IsraelTakeda Pharmaceutical International AG, 8152 Zurich, SwitzerlandTakeda Pharmaceutical International AG, 8152 Zurich, SwitzerlandEarly and accurate diagnosis of Gaucher disease, a rare, autosomal recessive condition characterized by hepatosplenomegaly, thrombocytopenia, and anemia, is essential to facilitate earlier decision-making and prevent unnecessary tests and procedures. However, diagnosis can be challenging for non-specialists, owing to a wide variability in age, severity of disease, and types of clinical manifestation. The Gaucher Earlier Diagnosis Consensus (GED-C) scoring system was developed by a panel of 22 expert physicians using Delphi methodology on the signs and covariables considered important for diagnosing Gaucher disease. This study aimed to use the scoring system in a real-world dataset. We applied the GED-C scoring system to 265 confirmed cases of Gaucher disease identified in the Maccabi Health Services (MHS) database from 1998 to 2022. Overall Delphi scores were calculated using features applicable to type 1 Gaucher disease. Based on all available patient data up to one year after diagnosis, the median (interquartile range (IQR)) Delphi score was 8.0 (5.5–11.5), with patients reporting up to 15 variables each. A score of 9.5 (6.5–12.5) was determined for 205 patients diagnosed from 2000 to 2022. The overall GED-C score was highly dependent on the extraction of all relevant data. The number of features collected in the MHS database was fewer than those required to achieve a high score on the GED-C score.https://www.mdpi.com/2673-8937/2/3/37Gaucher diseaseearly diagnosismachine learningreal-world data |
| spellingShingle | Shoshana Revel-Vilk Gabriel Chodick Varda Shalev Roni Lotan Kaja Zarakowska Noga Gadir Using the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi Score in a Real-World Dataset International Journal of Translational Medicine Gaucher disease early diagnosis machine learning real-world data |
| title | Using the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi Score in a Real-World Dataset |
| title_full | Using the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi Score in a Real-World Dataset |
| title_fullStr | Using the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi Score in a Real-World Dataset |
| title_full_unstemmed | Using the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi Score in a Real-World Dataset |
| title_short | Using the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi Score in a Real-World Dataset |
| title_sort | using the gaucher earlier diagnosis consensus ged c delphi score in a real world dataset |
| topic | Gaucher disease early diagnosis machine learning real-world data |
| url | https://www.mdpi.com/2673-8937/2/3/37 |
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