Is it possible to implement a rare disease case-finding tool in primary care? A UK-based pilot study

Buendia, Orlando; Shankar, Sneha; Mahon, Hadley; Toal, Connor; Menzies, Lara; Ravichandran, Pradeep; Roper, Jane; Takhar, Jag; Benfredj, Rudy; Evans, Will

doi:10.1186/s13023-022-02216-w

All Outputs (5)

Managing raised ferritin in primary care (2023)
Journal Article
Stewart, S., Evans, W., Turnbull, I., Bradbury, C., Hayward, J., & Shearman, J. (2023). Managing raised ferritin in primary care. BMJ, 382, Article e076750. https://doi.org/10.1136/bmj-2023-076750

Educational needs in diagnosing rare diseases: A multinational, multispecialty clinician survey (2023)
Journal Article
Rohani-Montez, S. C., Bomberger, J., Zhang, C., Cohen, J., McKay, L., & Evans, W. R. (2023). Educational needs in diagnosing rare diseases: A multinational, multispecialty clinician survey. Genetics in Medicine Open, 1(1), Article 100808. https://doi.org/10.1016/j.gimo.2023.100808

Purpose Recognizing rare diseases (RDs) and initiating appropriate investigation and referral is critical for timely diagnosis. Unfortunately, patients with RDs experience significant diagnostic delays, potentially... Read More about Educational needs in diagnosing rare diseases: A multinational, multispecialty clinician survey.

Identifying Patients with Bicuspid Aortic Valve Disease in UK Primary Care: A Case–Control Study and Prediction Model (2022)
Journal Article
Evans, W., Akyea, R. K., Weng, S., Kai, J., & Qureshi, N. (2022). Identifying Patients with Bicuspid Aortic Valve Disease in UK Primary Care: A Case–Control Study and Prediction Model. Journal of Personalized Medicine, 12(8), Article 1290. https://doi.org/10.3390/jpm12081290

Bicuspid aortic valve disease (BAV) is the most common congenital heart condition, and early detection can improve outcomes for patients. In this case–control study, patients with a diagnosis of BAV were identified from their electronic primary-care... Read More about Identifying Patients with Bicuspid Aortic Valve Disease in UK Primary Care: A Case–Control Study and Prediction Model.

Measuring the Impact of the COVID-19 Pandemic on Diagnostic Delay in Rare Disease (2022)
Journal Article
Hampson, C., Evans, W., McKay, L., & Menzies, L. (2022). Measuring the Impact of the COVID-19 Pandemic on Diagnostic Delay in Rare Disease. EMJ Innovations, https://doi.org/10.33590/emj/21-00181

Rare diseases are individually rare but collectively common, with a combined prevalence of 3.5–5.9%. A common feature of many diseases is a substantial delay in patients receiving a correct diagnosis; this protracted path to diagnosis is termed ‘the... Read More about Measuring the Impact of the COVID-19 Pandemic on Diagnostic Delay in Rare Disease.

Is it possible to implement a rare disease case-finding tool in primary care? A UK-based pilot study (2022)
Journal Article
Buendia, O., Shankar, S., Mahon, H., Toal, C., Menzies, L., Ravichandran, P., …Evans, W. (2022). Is it possible to implement a rare disease case-finding tool in primary care? A UK-based pilot study. Orphanet Journal of Rare Diseases, 17, Article 54. https://doi.org/10.1186/s13023-022-02216-w

Introduction: This study implemented MendelScan, a primary care rare disease case-finding tool, into a UK National Health Service population. Rare disease diagnosis is challenging due to disease complexity and low physician awareness. The 2021 UK Rar... Read More about Is it possible to implement a rare disease case-finding tool in primary care? A UK-based pilot study.