NHS data study reveals ethnic labels mask rare disease variations

A study published in the journal Scientific Reports has found that broad ethnic classifications in healthcare data can mask significant disparities in rare disease prevalence and COVID-19 infection rates. Researchers analyzed linked electronic health records from 62.5 million people in England through the National Health Service (NHS) Secure Data Environment.

The cross-sectional analysis examined 406 rare diseases. Out of the population studied, approximately 1.7%—or 1,051,470 individuals—were identified as having at least one of the targeted rare diseases. The study noted that while some conditions were extremely rare, others like polymyalgia rheumatica reached up to 3,139.5 cases per million.

Key findings indicate that using detailed NHS classifications instead of broad ethnic groupings reveals substantial variations across different communities. For instance, recorded COVID-19 infection rates among patients with rare diseases varied between 23.8% and 33.7% depending on specific ethnic backgrounds. The research highlights how broad labels may obscure the unique health needs and diagnostic challenges faced by minoritized ethnic groups.