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Genetic Alliance UK and Alexion call for urgent reforms to improve patient care as new survey reveals shortcomings with UK Rare Disease Strategy

Genetic Alliance UK and Alexion call for urgent reforms to improve patient care as new survey reveals shortcomings with UK Rare Disease Strategy


New survey findings provide patient and community led recommendations for change ahead of new framework for rare diseases.


Genetic Alliance UK and Alexion Pharma UK are calling on Government and the NHS to continue to take collaborative action to improve the quality of care for the 3.5 million people living with a rare disease in the UK.[i] This coincides with the launch of the survey findings, presented today at the All-Party Parliamentary Group (APPG) meeting on Rare, Genetic and Undiagnosed Conditions. The survey highlights perspectives on overall patient care from over 1,000 patients and representatives from the rare disease community and shares clear recommendations to support implementation of a new framework to drive improved health system prioritisation and accountability by healthcare providers and in Government.

The survey reveals that, despite a Rare Disease Strategy having been published in 2013, there are still major unmet needs in the care of patients living with a rare disease, across the entire patient pathway, from diagnosis through to treatment access and ongoing disease management and care. With 50% of patients believing that there has been no change in quality of care, over one third (37%) rating their overall experience of care as poor or very poor, and half (50%) of patients stating that their care has not been effectively coordinated. Research also found that 52% diagnosed within the last five years had to wait over two years for their diagnosis, with 41% waiting over five years, and almost half (49%) of patients having been misdiagnosed at least once. Additionally, almost two thirds of patients felt that their care has been further disrupted as a result of COVID-19.[ii]

“While the UK’s first Rare Disease Strategy has made some strides, it is unfortunate to see that it has had little impact on care for the majority of rare disease patients. The findings from our survey show why it is so important to listen and learn from patients and their experiences,” said Jayne Spink, Chief Executive, Genetic Alliance UK. “The new Rare Disease Framework will offer an opportunity to remedy this and to ensure that faster diagnosis and better coordination of treatment and care are available to all those affected by rare diseases.”

With the implementation period of the 2013 UK Rare Disease Strategy coming to an end this year, a new rare disease framework is expected imminently. It is therefore vital that perspectives from across the patient and medical community are considered to improve the experience of care across the entire patient journey. The new Reforming Rare Diseases Report provides this insight by sharing the survey findings, as well as a series of key recommendations to help improve the quality of life for people in the UK affected by rare diseases. These recommendations should be considered in the effective implementation of a new rare disease framework:

  1. As a first step, the Government and NHS should ensure that the implementation plans for the new Rare Disease Framework should be based on an evaluation as to why previous initiatives have failed to improve care in the last five years for all patients living with a rare disease.
  2. The NHS must ensure it has the infrastructure in place to ensure that all patients suspected of having a rare disease are identified and able to access all the necessary diagnostic capabilities that the Genomic Medicine Service can offer.
  3. The Government and the NHS should focus on improving whole person care for patients with more complex conditions.
  4. The NHS should provide every patient with a rare disease with (i) a dedicated care coordinator, (ii) access to a specialist centre if available and (iii) a care plan if desired by the patient.
  5. The NHS should put metrics and standards in place to ensure that decision making is shared with the patient, including improving access to relevant information about their condition.

Whilst acknowledging that the NHS now is very different to the NHS in 2013, COVID-19 has also exacerbated the longstanding issues rare disease patients face.ii Implementation of the new framework must recognise previous shortcomings, the changing landscape and consider how future care may be impacted by an ongoing pandemic.

This survey brings the patient voice on satisfaction of care to the forefront. The lack of health system prioritisation to address the challenges facing people with a rare disease over the last seven years shows that the original aim – “to ensure no one gets left behind because they have a rare disease” – has not yet delivered on this promise. With the expected new framework, the time is now to listen to the rare disease community and look across the whole patent journey, in order to urgently address these shortcomings, and implement fully against this to ensure positive change,” Sean Richardson, VP & General Manager UK & Ireland, Alexion.

You can access the survey findings and recommendations via the Reforming Rare Diseases report here

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Last Updated: 15-Jan-2021