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Rare Diseases 2020

Clarity of approach is essential to realise opportunities for all

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Jayne Spink

Chief Executive, Genetic Alliance UK and EURODIS Board Member

As we mark Rare Disease Day 2020, we stand on the brink of a golden age; at no previous point in history has research promised so much to the rare disease community.


Significant technological advances mean that individuals affected by rare diseases now have hope of access to speedy diagnosis, information, support, care, research or treatment. Early access to effective care and treatment is realistically within our grasp, for the many rather than the few.

However, when looking to the future, it is easy to overlook the value of technologies we already have. Because of this, we habitually erect needless barriers between those affected by rare diseases and the best possible outcomes.  But while the barriers to providing optimal healthcare for all rare disease patients are significant, they are not insurmountable.

The healthcare ecosystem is fiendishly complex and tends to work in silos. In the context of rare diseases, fragmentation is the enemy of progress.

Patient experience key to future developments

Seven years into the first UK strategy for rare disease, there have undeniably been huge changes in terms of policy, structures, processes, technology and innovation.

Yet, we lack any way to measure the impact of these changes, or the strategy itself, on the experience of rare disease patients. With the UK strategy ending in 2020, the opportunity to rectify this for the years ahead is upon us.

The future policy framework needs to learn lessons from the past and build in patient experience as a key metric right from the start.

Integrated thinking – the missing discipline

The healthcare ecosystem is fiendishly complex and tends to work in silos. In the context of rare diseases, fragmentation is the enemy of progress.

In accessing a diagnosis and the right care, support and treatment, patients and advocates face a series of hurdles. To improve outcomes for our community, rare disease advocates must focus on disparate bodies whose collective decisions will ultimately determine the length and quality of patients’ lives.

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This fragmentation and diversity of approach to decision-making and funding is the cause of so many problems. It is why children born with rare diseases (which would be best treated prior to symptoms showing, using technologies available within our NHS), are not picked up through screening at birth.

It results in an NHS that is slow to provide funding for rare disease medicines or, in half of cases, declines to fund access at all.

It is the reason why, despite notable and very welcome initiatives relating to the collection and use of patient data, we still know surprisingly little about the prevalence and natural history of most rare diseases.

Be bold but be inclusive

The diversity of need is so great and varied that rare disease patients should not be asked to collectively prioritise one element of their journey over any other.

A holistic approach is critical; consider, for example, what happens downstream from genomic medicine drastically shortening the diagnostic odyssey. Delivering improved outcomes needs a whole-system approach.

The government is driving forward a bold vision for genomics; we need an equally bold vision for care and services for people affected by rare diseases.

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