Fanconi Anemia: Examining Guidelines for Testing All Patients with Hand Anomalies Using a Machine Learning Approach
Background: This study investigated the questionable necessity of genetic testing for Fanconi anemia in children with hand anomalies. The current UK guidelines suggest that every child with radial ray dysplasia or a thumb anomaly should undergo further cost intensive investigation for Fanconi anemia...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-01-01
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| Series: | Children |
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| Online Access: | https://www.mdpi.com/2227-9067/9/1/85 |
| _version_ | 1797494994168184832 |
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| author | Christoph Wallner Jane Hurst Björn Behr Mohammad Abu Tareq Rony Anthony Barabás Gill Smith |
| author_facet | Christoph Wallner Jane Hurst Björn Behr Mohammad Abu Tareq Rony Anthony Barabás Gill Smith |
| author_sort | Christoph Wallner |
| collection | DOAJ |
| description | Background: This study investigated the questionable necessity of genetic testing for Fanconi anemia in children with hand anomalies. The current UK guidelines suggest that every child with radial ray dysplasia or a thumb anomaly should undergo further cost intensive investigation for Fanconi anemia. In this study we reviewed the numbers of patients and referral patterns, as well as the financial and service provision implications UK guidelines provide. Methods: Over three years, every patient with thumb or radial ray anomaly referred to our service was tested for Fanconi Anemia. CART Analysis and machine learning techniques using Waikato Environment for Knowledge Analysis were applied to evaluate single clinical features predicting Fanconi anemia. Results: Youden Index and Predictive Summary Index (PSI) scores suggested no clinical significance of hand anomalies associated with Fanconi anemia. CART Analysis and attribute evaluation with Waikato Environment for Knowledge Analysis (WEKA) showed no single feature predictive for Fanconi anemia. Furthermore, none of the positive Fanconi anemia patients in this study had an isolated upper limb anomaly without presenting other features of Fanconi anemia. Conclusion: As a conclusion, this study does not support Fanconi anemia testing for isolated hand abnormalities in the absence of other features associated with this blood disease. |
| first_indexed | 2024-03-10T01:42:09Z |
| format | Article |
| id | doaj.art-3be5f9cc938e490a995d619f8cba756e |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-10T01:42:09Z |
| publishDate | 2022-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj.art-3be5f9cc938e490a995d619f8cba756e2023-11-23T13:21:38ZengMDPI AGChildren2227-90672022-01-01918510.3390/children9010085Fanconi Anemia: Examining Guidelines for Testing All Patients with Hand Anomalies Using a Machine Learning ApproachChristoph Wallner0Jane Hurst1Björn Behr2Mohammad Abu Tareq Rony3Anthony Barabás4Gill Smith5Department of Plastic Surgery, Great Ormond Street Hospital, London WC1N 3JH, UKDepartment of Plastic Surgery, Great Ormond Street Hospital, London WC1N 3JH, UKDepartment of Plastic and Hand Surgery, Burn Center Sarcoma Center, BG University Hospital Bergmannsheil Bochum, Ruhr University Bochum, 44789 Bochum, GermanyDepartment of Statistics, Noakhali Science and Technology University, Noakhali 3814, BangladeshDepartment of Plastic Surgery, Great Ormond Street Hospital, London WC1N 3JH, UKDepartment of Plastic Surgery, Great Ormond Street Hospital, London WC1N 3JH, UKBackground: This study investigated the questionable necessity of genetic testing for Fanconi anemia in children with hand anomalies. The current UK guidelines suggest that every child with radial ray dysplasia or a thumb anomaly should undergo further cost intensive investigation for Fanconi anemia. In this study we reviewed the numbers of patients and referral patterns, as well as the financial and service provision implications UK guidelines provide. Methods: Over three years, every patient with thumb or radial ray anomaly referred to our service was tested for Fanconi Anemia. CART Analysis and machine learning techniques using Waikato Environment for Knowledge Analysis were applied to evaluate single clinical features predicting Fanconi anemia. Results: Youden Index and Predictive Summary Index (PSI) scores suggested no clinical significance of hand anomalies associated with Fanconi anemia. CART Analysis and attribute evaluation with Waikato Environment for Knowledge Analysis (WEKA) showed no single feature predictive for Fanconi anemia. Furthermore, none of the positive Fanconi anemia patients in this study had an isolated upper limb anomaly without presenting other features of Fanconi anemia. Conclusion: As a conclusion, this study does not support Fanconi anemia testing for isolated hand abnormalities in the absence of other features associated with this blood disease.https://www.mdpi.com/2227-9067/9/1/85Fanconihand surgerypediatric malformation |
| spellingShingle | Christoph Wallner Jane Hurst Björn Behr Mohammad Abu Tareq Rony Anthony Barabás Gill Smith Fanconi Anemia: Examining Guidelines for Testing All Patients with Hand Anomalies Using a Machine Learning Approach Children Fanconi hand surgery pediatric malformation |
| title | Fanconi Anemia: Examining Guidelines for Testing All Patients with Hand Anomalies Using a Machine Learning Approach |
| title_full | Fanconi Anemia: Examining Guidelines for Testing All Patients with Hand Anomalies Using a Machine Learning Approach |
| title_fullStr | Fanconi Anemia: Examining Guidelines for Testing All Patients with Hand Anomalies Using a Machine Learning Approach |
| title_full_unstemmed | Fanconi Anemia: Examining Guidelines for Testing All Patients with Hand Anomalies Using a Machine Learning Approach |
| title_short | Fanconi Anemia: Examining Guidelines for Testing All Patients with Hand Anomalies Using a Machine Learning Approach |
| title_sort | fanconi anemia examining guidelines for testing all patients with hand anomalies using a machine learning approach |
| topic | Fanconi hand surgery pediatric malformation |
| url | https://www.mdpi.com/2227-9067/9/1/85 |
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