Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case
(2024)
Journal Article
Evans, W., Akyea, R. K., Simms, A., Kai, J., & Qureshi, N. (2024). Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case. Journal of Community Genetics, https://doi.org/10.1007/s12687-024-00742-7
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 syndr... Read More about Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case.