Ahead of Rare Disease Day on 28 February, Jayne Spink discusses why the UK Strategy for Rare Diseases needs to be reviewed now
In Europe, rare diseases are those that affect fewer than one in 2000 people.1 There are more than 6000 rare diseases,1 and 3.5 million people in the UK—one in 17—will be affected by a rare condition at some point in their lives.2 The sheer number of rare diseases, and the potential for differences in symptoms and severity among individual patients with any given disease, mean it is impossible for any healthcare professional to have awareness or knowledge of every rare disease.
3.5 million people in the UK—one in 17—will be affected by a rare condition at some point in their lives
A survey conducted by Genetic Alliance UK in 2015 found that before receiving a rare disease diagnosis, patients felt they were not given enough information or support.2 This is particularly significant given that the ‘diagnostic odyssey’, or journey to diagnosis for a patient with a rare disease, can be lengthy. Around one‑quarter of patients wait more than 5 years for a diagnosis, with more than half receiving at least one incorrect diagnosis, and more than one-third receiving upwards of three incorrect diagnoses.2
Throughout life, having a rare disease means that individuals and their families can face a constellation of challenges that are not usually so prominent for those with more common conditions. The first challenge is securing a diagnosis, with people living with rare diseases reporting difficulties in persuading medical professionals that the symptoms they or their child are experiencing are real and not ‘psychological’ or down to their being a ‘neurotic parent’.² Having no diagnosis is a significant barrier to accessing coordinated care and appropriate treatment; 73% of respondents in the survey conducted by Genetic Alliance UK who had no diagnosis felt it had been a barrier to accessing treatment.²
Receiving a diagnosis of a rare disease can be an isolating experience, bringing fresh challenges. Information relating to care and treatment is not shared between hospital trusts, or between specialist and local services.²
Most patients who have a rare disease are left to coordinate their own care, which involves attending multiple clinics and travelling significant distances to them.³
Families may be given little information about their condition and are often left to research it themselves. Third‑sector and voluntary groups perform critical functions that include providing information, access to support and their patient community, and providing opportunities to engage with and support research. The value of these services is under-recognised, with far too few clinicians being aware of the benefits of signposting patients to third-sector organisations.
Over time, and often with the support of others from their patient community, individuals gather knowledge and tackle the repeated task of educating non-specialist professionals² during their own or their child’s medical consultations. This accumulated knowledge and engagement helps to support patients in their interactions with health services and professionals and improve access to appropriate treatment and care.
The physical effects of living with a rare condition tend to be more readily recognised and addressed than the social, economic, educational, and emotional effects. Living with a rare or undiagnosed condition can result in anxiety, stress, and low mood. A recent survey conducted by Genetic Alliance UK found that 95% of respondents with a rare condition had felt ‘worried’ or ‘anxious’, 93% had felt ‘stressed’, and 90% had felt ‘low’.⁴ Patients and carers can become emotionally exhausted: living with a rare disease can push families to ‘breaking point’. Low levels of awareness among healthcare professionals, the process of seeking a diagnosis, not being believed, and poor care coordination are reported as having a negative effect on mental health by four out of five patients/carers.⁴
European reference networks
With the low prevalence of rare diseases, the ability to collaborate across national borders in terms of diagnostic expertise, care, and research is fundamental. The European Commission (EC) has developed European Reference Networks (ERNs) so that knowledge and expertise about rare diseases can be shared across Europe.⁵
The UK is set to leave the European Union (EU) and, at the time of writing, the UK Government and the EU had not agreed on a withdrawal procedure that would protect the UK’s ability to continue to be involved in ERNs. A ‘no-deal’ exit from the EU would leave us without any basis to take part. Currently, there are 24 ERNs and the UK is involved in 23. Until recently, the UK was leading six of these networks. However, in preparation for the UK’s departure from the EU, the EC asked these hospitals to step down from their roles by 14 November 2018. Without the continued involvement of the UK, the capacity of ERNs will be diminished and they risk falling short of their ambition to raise standards and equity in rare disease care across the EU. Critically, this loss will affect rare disease services and patients in the UK. Genetic Alliance UK’s campaign, Protect ERNs, aims to ensure that families affected by rare and undiagnosed conditions are not disadvantaged.⁶
For many patients the challenges of managing their condition are made worse by the absence of an effective treatment. Research including clinical trials for rare diseases is dependent on the ability to collaborate across national borders and the UK’s future ability to fund and attract rare disease research is also uncertain pending the outcome of Brexit.
Orphan medicinal products
Even where there is a licensed treatment for a rare disease, gaining access can be a struggle. Only half of all licensed orphan medicinal products (OMPs) are routinely available on the NHS and around one-fifth have not been assessed for access.7
The time taken to evaluate and make available rare disease medicines in the UK is greater than in most European nations. For individual patients with rare diseases, particularly where the condition is progressive, the effect of making funding decisions so slowly can be catastrophic. Across the UK there are no less than 17 different systems for assessing whether OMPs should be made available on the NHS: a diversity of approach that makes little sense for medicines licensed for small patient populations.
Commissioning and delivering evidence-based, best standards of care pose challenges for commissioners and healthcare providers. Given that there are more than 6000 rare diseases,1 evidence-based guidelines exist for only a few. For the rarest rare conditions, there are 34 condition-specific, highly specialised service specifications. For the rest, of the 146 specialised service specifications adopted by NHS England, fewer than 40 relate to individual rare diseases and most date back to 2013.8
Lack of equity to access specialised (tertiary) care affects how patients view the quality of care they receive. In a 2018 survey carried out by Genetic Alliance UK, more than 60% of respondents rated their care as ‘satisfactory’ or ‘poor’, with just under half of those without access to specialist centres rating their care as ‘poor’.9 We are clearly some time away from the goal of delivering equity of access to the best possible care for every patient with a rare disease.
Refresh the UK strategy for rare diseases
Rare Disease Day, held on the last day of February, is an annual reminder to policymakers and commissioners that while rare diseases individually are rare, collectively they are common.10
That is why Genetic Alliance UK is calling on the DHSC to lead a refresh and review of the UK Strategy for Rare Diseases, published in 2013.11
The landscape of possibilities for rare disease diagnosis, care, and treatment has undergone a technology-driven transformation since the publication of the strategy. The policy environment too has changed and many of the structures and bodies referenced in 2013 have been consigned to history. New approaches to evaluation and commissioning have been developed and new initiatives, such as the NHS England genomic medicine service12 and the EC’s ERNs, have been born.5
The time to review and refresh the UK Strategy for Rare Diseases,11 the principles and ambitions of which still hold true, is now.
- EURORDIS. About Rare Diseases. www.eurordis.org/about-rare-diseases (accessed 10 January 2019).
- Rare Disease UK. The rare reality: an insight into the patient and family experience of rare disease. London: Rare Disease UK, 2016. Available at: www.raredisease.org.uk/media/1588/the-rare-reality-an-insight-into-the-patient-and-family-experience-of-rare-disease.pdf
- Genetic Alliance UK. The hidden costs of rare diseases: a feasibility study. London: Genetic Alliance UK, 2016. Available at: www.geneticalliance.org.uk/media/2502/hidden-costs-full-report_21916-v2-1.pdf
- Rare Disease UK. Living with a rare condition: the effect on mental health. London: Rare Disease UK, 2018. Available at: www.raredisease.org.uk/our-work/living-with-a-rare-condition-the-effect-on-mental-health-2018
- European Commission. European reference networks. ec.europa.eu/health/ern_en (accessed 10 January 2019).
- Genetic Alliance UK. #ProtectERNs. protect-erns.eu/showyoursupport (accessed 10 January 2019).
- Office of Health Economics. Comparing Access to Orphan Medicinal Products (OMPs) in the United Kingdom and other European countries. 2017. Available at: www.ohe.org/publications/comparing-access-orphan-medicinal-products-omps-united-kingdom-and-other-european
- NHS England. Highly specialised services. 2018. Available at: www.england.nhs.uk/commissioning/wp-content/uploads/sites/12/2018/12/Highly-Specialised-Services-2018.pdf
- Rare Disease UK. Rare disease care: survey results. London: Rare Disease UK, 2018. Available at: www.raredisease.org.uk/our-work/rate-your-rare-disease-care
- EURORDIS. Rare disease day. www.rarediseaseday.org (accessed 10 January 2019).
- Department of Health. The UK strategy for rare diseases. London: DH, 2013. Available at: assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/260562/UK_Strategy_for_Rare_Diseases.pdf
- NHS England. NHS genomic medicine service. www.england.nhs.uk/genomics/nhs-genomic-med-service (accessed 10 January 2019).