As the new Rare Disease Strategy is set to be published later this year, Genetic Alliance and Alexion have partnered to carry out a survey to understand the impact of rare diseases to individuals and families. In this, Reforming Rare Diseases report they demonstrate the shortcomings of the 2013 Rare Disease Strategy and are calling for robust implementation plans and accountability. We are delighted to share an overview of this report with the full report available through the link at the bottom.

2020 marks the end of the implementation period for the 2013 UK Rare Disease Strategy. Many are awaiting a new framework for rare diseases which will shortly be published and supported by implementation plans across the four nations of the UK. 

Patients may have heard the Government or NHS sharing the primary aim of the 2013 Strategy: “to ensure no one gets left behind because they have a rare disease”. While this was the right intention and many of the 51 recommendations have ensured tangible progress has been made, there are still many changes that need to be made to improve the patient journey and overall care. So much so that seven years on, the consistent lack of health system prioritisation given to addressing the challenges facing people with a rare disease means this aim should be considered a work in progress rather than complete. 

A new UK-wide strategy for rare diseases is promised, welcomed and required, however it is vital that opinions from across the rare disease community are considered when developing implementation plans to ensure improvements are effectively delivered throughout the patient journey. With this in mind, Alexion and Genetic Alliance UK carried out a survey of over 1,000 people living with rare diseases and gathered expert insight from leaders of patient associations and clinicians working within the rare disease space, to learn more about  current views on care and diagnosis.

Results from the survey were developed into the Reforming Rare Diseases report, which brings the reality of the challenges faced by patients with rare diseases into clear view. Despite the Rare Disease Strategy having been implemented in 2013, half of patients believe there has been no change in their quality of care. In addition, over one third (37%) rated their overall experience of care as poor or very poor, with 52% diagnosed within the last five years having to wait over two years for their diagnosis. Moreover, in recent months the COVID-19 pandemic has worsened the longstanding issues which are facing patients living with a rare disease in the UK, such as challenges receiving a definitive diagnosis, access to specialist care and treatment and coordination of services.

The lack of integrated care and coordination of services for people living with rare diseases is a particular concern among the rare disease community. Despite better coordination of care being a key focus in the 2013 Strategy, half of the patients surveyed believe their care is not effectively coordinated, with over 70% of patients having to coordinate their own care.

The findings in this report show why it is so important to listen to and learn from patients and their experiences. These perspectives have been translated into a series of key recommendations in the report aimed at helping to improve the quality of life for people in the UK affected by rare diseases. These perspectives and recommendations must be considered in the implementation of a new strategy, which must ensure that people with a rare disease have improved quality of care, including faster diagnosis, better coordinated care and timely access to new innovative therapies. 

• 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
• 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
• The Government and the NHS should focus on improving whole person care for patients with more complex conditions
• 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
• 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

Resolving the problems that rare disease patients experience in accessing diagnosis and good, coordinated care have often been parked in the “too difficult” box because there is no one size fits all solution for people affected by rare disease.  However, if any lessons have been learned from the COVID-19 pandemic, it is that, when we work together, we can rapidly overhaul entire patient pathways and implement technological solutions previously regarded as challenges in the NHS.

These lessons must be applied to help the 3.5 million people in the UK affected by a rare disease access patient centred care with a renewed vision in the new Rare Disease Framework and a robust plan of action with every stakeholder assigned its accountability for delivering.  

With this, Alexion Pharma UK and Genetic Alliance UK are calling on Government and the NHS to continue to take collaborative action to improve quality of care. The time is now to listen to the rare disease community, urgently address these failings, and take action to ensure positive change. 

Click below to read the full report.

Job number: M/UK/UNB-U/0066
Date of preparation December 2020