Over the past 10 years, the diagnoses of rare diseases in patients has cost the NHS over £3.4 billion, new research shows.
A study commissioned by healthtech company Mendelian and undertaken by Imperial College Health Partners (ICHP) highlights both the frustration and the resource-intensive process that come when diagnosing rare diseases.
The study used an analysis of 258,235 patients who had been diagnosed with a rare disease during 2017/18, focusing on hospital visits and activity in the run up to diagnosis over the prior 10 years. It found that during that time, rare disease patients cost NHS England over £3.4 billion.
Unsurprisingly, the study found that rare disease patients were linked to a higher number of hospital visits and accompanying costs compared to the general population. In particular, it found that individual patients with rare diseases cost £7,000 more than the general population
More so, a comparison of 64 inpatient and outpatient procedures showed that the total cost for rare disease patients outweighed the costs of the comparative population in the majority of procedures.
Research indicates that within the UK, it takes an average of 5.6 years, eight clinicians and three misdiagnoses before the correct rare disease is identified. Globally, it’s estimated that rare diseases affect 350 to 400 million people.
Peter Fish, head of clinical partnerships at Mendelian said: “The ‘diagnostic odyssey’ for rare diseases is often fraught with emotional turmoil and suboptimal care for patients, frustration for clinicians and is also extremely costly for hospitals and associated trusts. This new research has given us a rare insight into the extent of this financial burden on the NHS and will hopefully also help us along the path to effective solutions, not just in the UK but also globally.”
Julia Wilkins, head of data and analytics at Imperial College Health Partners said: “The costs to the NHS highlighted by the research are in fact only the tip of the iceberg, due to the fact that routine healthcare data does not yet fully capture the true extent of the thousands of different rare disease classifications that can pass through the system. For example, the International Classification of Diseases (ICD-10) is believed to only account for approximately 5% of known rare diseases. Therefore, these recent findings might well be extrapolated in order to anticipate a complete picture of the impact of diagnosing rare diseases on the NHS, both in terms of cost and resource utilisation, which is most likely considerably larger than the estimate outlined.”