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Hard to reach: diagnosis in rare diseases

July 2022 Jamie Holyer

Hardtoreach JH

The term ‘rare disease’ is arguably the most misused terms in medicine given that rare diseases are not rare. There are over 7000 rare diseases and 1 in 17 people will be affected by a rare disease in their lifetime. Extrapolated to the UK population, this equates to staggering 3.5 million people impacted.

Despite their prevalence, rare diseases remain notoriously difficult to diagnose. Data from Genetic Alliance UK states that over one third of people will wait for more than 5 years to receive a definitive diagnosis, nearly 10% of patients will remain undiagnosed and, over 50% of those diagnosed, had previously been misdiagnosed.

The impact of such a ‘diagnostic odyssey’ for so many is crippling: untimely or inaccurate diagnosis leads to disease progression, lack of or indeed no interventions for significant periods of time, causing acute anxiety as patients are moved around successive areas of the health service only to find another dead end and referral elsewhere.

It would be easy to point the finger, but the issue is both well understood by healthcare professionals, already suffering with heavy workloads, and NHS England who are investing in diagnostics and have published a comprehensive Rare Disease Framework plan. All the time whilst trying to achieve the impossible of overcoming the pandemic backlog. Maybe in these straightened times the better question to ask is what existing policy levers can be applied or mechanisms tweaked in the short-term to ensure a more timely experience of diagnosis?

The establishment this month of Integrated Care Systems (ICSs) will deliver improved cross-functional sharing of expertise, but such a seismic shift will take time to work effectively. Similarly, the current digital transformation agenda has huge potential to fulfill some of the commitments in the Rare Disease Framework, notably in better access to information in Primary Care, but will also take time.

Perhaps some more tangible and timely policy interventions could include the development of NICE Guidance for GPs on the diagnosis of rare conditions and NHSE targets for the diagnosis of rare diseases within a specified time period. Both measures are deployed for the treatment of more ‘common’ conditions, would both serve to profile the needs of rare diseases patients, provide data that can audited in time against the Rare Disease Framework and utilise existing policy mechanisms.

Against the backdrop of ever-expanding waiting lists, NHSE and NICE could act now relatively easily.

For all this, sadly, a diagnosis is only the start of the journey for rare disease patients and much depends on how the diagnosis is given, information available and, ultimately, treatment options.

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