Data Science
Rare diseases and COVID-19 related mortality
The challenge
The Global Burden of Disease Study has provided key evidence to inform clinicians, researchers, and policy makers across common diseases, but no similar effort with a single-study design exists for hundreds of rare diseases. Consequently, for many rare conditions there is little population-level evidence, including prevalence and clinical vulnerability, resulting in an absence of evidence-based care that was prominent during the COVID-19 pandemic. This study aimed to inform rare disease care by providing key descriptors from national data and explore the impact of rare diseases during the COVID-19 pandemic.
The research
In this study, we use national-scale electronic health record data from England to report point prevalences, adjusted for age and sex, for 331 rare diseases with clinically validated ICD-10 or Systemized Nomenclature of Medicine – Clinical Terms code lists, or both. Among these, 186 (56%) diseases did not have existing point prevalence data available in Orphanet (an online resource for rare diseases). To our knowledge, this is the first time that rare diseases have been examined on a national scale, encompassing a population of over 58 million people. The large sample size provides sufficient statistical power to detect and describe carriers of even very rare conditions (<1 case per million people). Our analysis of COVID-19-related mortality has shown the clinical relevance of national data for rare diseases. Specifically, we identified eight rare conditions associated with a significantly increased risk of mortality from COVID-19, even among fully vaccinated individuals (ie, patients for whom at least 14 days have elapsed since their second dose).
The impact
Findings from this research provide robust and reproducible estimates of prevalence, sex, and ethnicity for diseases that might often have been underprioritised and for which such information was mostly not previously available. Our COVID-19 mortality findings highlight the need for targeted governmental policy and support to address the high level of clinical vulnerability of these patients to COVID-19.
Lead
Read the paper
The study, Prevalence and demographics of 331 rare diseases and associated COVID-19 related mortality among 58 million individuals: a nationwide retrospective observational study, is published in The Lancet Digital Health
