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Rare disease diagnosis is improving fast – but we need to support front line services

Dr Sheuli Porkess

Executive Director of Research, Medical and Innovation at the Association of the British Pharmaceutical Industry

Not long ago, it was typical for a patient with a rare disease to find themselves bounced between clinical pillars and posts for many years before they received a diagnosis – if they ever did.


Recent advances in genomics, led by the 100K Genomes project are helping to change that picture. For example, one in four people in the project with a rare disease received a diagnosis, which increased to something like one in two in some conditions. That success is being built on through the NHS Genomics Medicines Service and the further expansion of one million whole genome sequencing.

This means that genomic testing is rapidly becoming a routine clinical tool for rare disease conditions. We may not yet have solved the – sometimes turbulent – journey for every patient, but substantial progress has been made.

Access to new, life-changing medicines

There is good news on the research and development front, with increasing numbers of new medicines, including cell and gene therapies, being developed and licensed for rare conditions.

There is also increasing focus on innovative clinical trial designs, which will help progress this research faster.

However, as we leave the EU, it will be of vital importance to maintain – and ideally strengthen – our international collaboration to continue creating the medicines of the future.

The question, however, is: ‘How do we get treatments approved quickly, taking into account the uncertain evidence base from which rare disease treatments inevitably stem?’

There is some good news here, too, with NICE currently reviewing the methods and processes used to assess medicines, hopefully with an increasing focus on taking better account of rarity and unmet need.

Furthermore, the recent announcement of the new Innovative Medicines Fund in England should allow more treatments to be made available to patients earlier.

There is a clear recognition that health technology assessment and commissioning systems need to evolve if patients are to truly benefit from rapid and routine access to these life changing treatments.

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We must support NHS services to keep up with rare disease diagnoses and treatments

As things improve, we must ensure services keep up. The increase in rare disease diagnosis is welcome, but it is beginning to cause real pressures on an already overstretched NHS, that is not currently best configured to support the myriad of individual rare conditions that are now being presented.

Many newly diagnosed patients are children, but an increasing number of adults in mid or even older life are now being diagnosed with a rare condition.

This is hugely positive, but with the clinical expertise often concentrated within paediatric services, there is a real question on where these older patients go for treatment.

Additionally, dedicated specialist rare disease NHS centres are in place, but often these are only set up to deliver a small set of specific, usually highly specialised services, while actually serving a much wider range of patients.

Genomics leads us to better insights into the causes and treatments of rare conditions. However, it is probably unrealistic to envisage continuing to commission a myriad of individual national services against set service specifications. It is also unlikely there would be sufficient clinical expertise to deliver such services nationally even if we went down that route.

UK Rare Disease Strategy

So, we need an urgent debate on how best to evolve both front line service provision and commissioning and this must be a focus as we collectively develop the successor to the current UK Rare Disease Strategy over the coming year.

Whatever follows, it has to chart a path to networked, sustainable rare disease services at scale, that can provide sufficient expertise for direct patient care and support, while supporting dedicated clinicians now and into the future.

We are looking forward to being part of the conversation, for the benefit of the three million people in the UK with a rare disease.

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