| アブストラクト | BACKGROUND: Patients with rare genetic diseases frequently experience significant diagnostic delays. Routinely collected data in the electronic health record (EHR) may be used to help identify patients at risk of undiagnosed conditions. Long QT syndrome (LQTS) is a rare inherited cardiac condition associated with significant morbidity and premature mortality. In this study, we examine LQTS as an exemplar disease to assess if clinical features recorded in the primary care EHR can be used to develop and validate a predictive model to aid earlier detection. METHODS: 1495 patients with an LQTS diagnostic code and 7475 propensity-score matched controls were identified from 10.5 million patients' electronic primary care records in the UK's Clinical Practice Research Datalink (CPRD). Associated clinical features recorded before diagnosis (with p < 0.05) were incorporated into a multivariable logistic regression model, the final model was determined by backwards regression and validated by bootstrapping to determine model optimism. RESULTS: The mean age at LQTS diagnosis was 58.4 (SD 19.41). 18 features were included in the final model. Discriminative accuracy, assessed by area under the curve (AUC), was 0.74, (95% CI 0.73, 0.75) (optimism 6%). Features occurring at significantly greater frequency before diagnosis included: epilepsy, palpitations, syncope, collapse, mitral valve disease and irritable bowel syndrome. CONCLUSION: This study demonstrates the potential to develop primary care prediction models for rare conditions, like LQTS, in routine primary care records and highlights key considerations including disease suitability, finding an appropriate linked dataset, the need for accurate case ascertainment and utilising an approach to modelling suitable for rare events. |
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| ジャーナル名 | Journal of community genetics |
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| Pubmed追加日 | 2024/10/15 |
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| 投稿者 | Evans, William; Akyea, Ralph K; Simms, Alex; Kai, Joe; Qureshi, Nadeem |
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| 組織名 | Primary Care Stratified Medicine (PRISM), Centre for Academic Primary Care,;School of Medicine, University of Nottingham, Applied Health Research Building;[42], University Park, Nottingham, NG7 2RD, UK. William.Evans@nottingham.ac.uk.;[42], University Park, Nottingham, NG7 2RD, UK.;Department of Cardiology, Leeds Teaching Hospital NHS Trust, Leeds, UK. |
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| Pubmed リンク | https://www.ncbi.nlm.nih.gov/pubmed/39405009/ |
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