(Press-News.org) An England-wide study of over 58 million people has identified eight rare diseases that carry significantly increased risks for COVID-19-related mortality in fully vaccinated individuals. This important research calls for better inclusion of rare diseases in public health strategies, including future pandemic planning, vaccination policies, and NHS service provision.
Historically rare diseases have been difficult to study and neglected in research, in part due to a lack of large-scale data. This means that people living with rare conditions often struggle to get the treatment and support they need. Additionally, rare disease patients were overlooked in public health planning – for example during COVID-19 lockdown periods, the UK’s shielding list excluded most rare diseases, failing to protect highly vulnerable individuals.
Researchers at UCL (University College London) and the University of Glasgow, supported by the BHF Data Science Centre at Health Data Research UK (HDR UK), set out to harness the power of large-scale linked data, to uncover new insights into rare diseases. Using linked electronic health records (EHRs), they investigated the prevalence of rare diseases across the population, and the risks that COVID-19 may pose to people with these conditions.
They uncovered eight rare diseases linked with an increased risk of dying from COVID-19, and found that people with rare diseases were nearly five times more like to die from COVID-19 than the general population. The conditions carrying the highest risk were infertility disorders and kidney diseases.
The rarity of some diseases can contribute to a lack of comprehensive data due to lengthy waits for diagnosis. And as the study period spans two ‘waves’ of the pandemic, it’s difficult to untangle the effects of different COVID-19 variants, as well as overlapping symptoms in multiple illnesses.
However, this study takes advantage of one of our health system’s unique strengths, having population-wide granular data coverage in EHRs and diversity in representation, highlighting significant health inequalities faced by specific ethnic groups in which some rare diseases were disproportionately common. It’s also the first time an analysis has been performed on so many rare diseases, and the impact of COVID-19 on the people with such conditions, a landmark moment for rare disease research.
Living with a rare disease can be extremely challenging, from a difficult diagnosis to relentless appointments to manage health and wellbeing. But these findings fill a critical knowledge gap, emphasising the power of electronic health record data to bring to light the prevalence and outcomes of rare diseases.
Co-author Professor Honghan Wu, University of Glasgow and formerly UCL, said:
“Early detection means earlier intervention and better treatment and support. The ability to link data gives us deeper understanding, and allows us to spot individuals who would otherwise have slipped through the net. So research harnessing NHS data for impact through linking EHRs has enormous potential to inform care and public health decision-making, beyond the COVID-19 pandemic, especially for patient populations that are far too often neglected.”
This research was published in The Lancet Digital Health.
END
Researchers leverage large-scale data to uncover new insights into rare diseases and COVID-19
2025-01-30
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