Fix the problems preventing or delaying UK patients having NHS access to rare disease medicines, treatments and care
In the UK, there are licensed medicinal products available for only a small minority of rare diseases. Despite this, patients face significant barriers in trying to access these potentially life-changing treatments.
Genetic Alliance UK’s ‘Action for Access’ report, launched in October 2019, outlined five systemic problems that restrict access to treatments: fragmentation, inflexibility, challenges with capturing the value of treatments, delays and a lack of transparency. The report concluded that behind these systemic problems are two fundamental problems: uncertainty and money that need to be urgently addressed.
‘Many of us living with a rare disease could have better quality of life if drugs and therapies were made available’
A rare disease patient read the full news story here…
Rare disease medicines can not only save lives, but be completely transformative; progressive conditions may be stopped or slowed, and patients may walk and/or see for longer. Such benefits may be felt too late, or not at all, owing to issues with the current system for providing medicines through the NHS.
Many patients require multi-disciplinary and coordinated care to manage their condition. Most people, however, do not receive such care and feel they have to organise their own care. A number of Rare Disease UK studies found that information is not shared effectively between hospital trusts, or between specialist and local services (Rare Disease UK, 2010; 2013; 2016). The ineffectiveness of multi-disciplinary and coordinated care is expensive for both the patient and also for the NHS (The Hidden Costs of Rare Diseases: A Feasibility Study, 2016).
‘The implications of ineffective multidisciplinary care can have such a detrimental impact on the lives of people like myself’ – A rare disease patient read the full news story here…
Make sure the NHS is detecting people affected by rare, genetic and undiagnosed conditions as early as possible
A diagnosis is often the key to unlocking access to effective medical care and treatment.
Rare disease patients usually experience delays in gaining a diagnosis with an average rare disease patient receiving three misdiagnoses, consulting with five doctors and waiting four years to get an accurate diagnosis (Illuminating the Rare Reality, 2019).
‘At the beginning, as I didn’t have a concrete diagnosis, I didn’t feel able to ask for advice.’ – A rare disease patient – read the full news story here…
In 2018, NHS England launched the new NHS Genomic Medicine Service, designed to offer whole genome sequencing to patients with certain rare, genetic and undiagnosed conditions, and certain cancers, as part of their routine NHS care. In a recent survey carried out by Genetic Alliance UK, the most hoped-for-benefits of whole genome sequencing through the NHS are: to improve one’s own care/treatment, to contribute to research into one’s condition and to obtain a diagnosis (Genome Sequencing and the NHS, 2019).
Despite the progress made in diagnosis through genome sequencing, the UK falls behind when it comes to screening for rare diseases. The UK currently screens for up to nine conditions as part of the newborn blood spot screening programme compared to most comparable high income countries that screen for between twenty and fifty conditions (Fixing the Present Building for the Future: Newborn Screening for Rare Conditions, 2019).
‘Early diagnosis helps in so many ways.’
A rare disease patient read the full news story here…
Build on the UK Strategy for Rare Diseases, to ensure the UK remains a world leader in research and innovation
The vast majority of over 6,000 known rare conditions cannot currently be cured and most have no effective treatments.
Rare disease patients still face fundamental challenges in relation to care, mental health, diagnosis, and access to information. Continued research and innovation is crucial, in order both to develop new treatments and to improve the day-to-day lives of patients affected by a rare condition.
‘As a rare disease patient, [research] is a way in which we can help to pioneer the future for fellow rare disease patients.’ A rare disease patient read the full news story here…
Research within the UK can bring a wide range of benefits, including: increasing awareness of diseases, developing treatments, improving diagnosis opportunities, uncovering information that will increase medical knowledge and even help to improve the health of the general population. The presence of research here means more opportunities for patients to participate in research, which can bring access to life saving treatments faster. The UK Strategy for Rare Diseases provides a platform to ensure we get the best out of research by supporting collaboration, and linking infrastructure within the UK and internationally.
Rare Disease UK, 2010. Experiences of Rare Diseases: An Insight from Patients and Families. [Online] London: Rare Disease UK. Available at:
http://www.raredisease.org.uk/media/1594/rduk-family-report.pdf (Accessed 5 November 2019).
Rare Disease UK, 2013. Rare Disease Coordination: Delivering value, improving services. [Online] London: Rare Disease UK. Available at:
https://www.raredisease.org.uk/media/1639/rduk-care-coordinator-report.pdf (Accessed 5 November 2019).
Rare Disease UK, 2016. The Rare Reality: An insight into the patient and family experience of rare disease. [Online] London: Rare Disease UK. Available at:
https://www.raredisease.org.uk/media/1588/the-rare-reality-an-insight-into-the-patient-and-family-experience-of-rare-disease.pdf (Accessed 5 November 2019).
Genetic Alliance UK, 2016. The Hidden Costs of Rare Diseases: A Feasibility Study. [Online] London: Genetic Alliance UK. Available at:
https://www.geneticalliance.org.uk/media/2502/hidden-costs-full-report_21916-v2-1.pdf (Accessed 5 November 2019).
Genetic Alliance UK, 2019. Action for Access. [Online] London: Genetic Alliance UK. Available at:
https://actionforaccess.geneticalliance.org.uk/ (Accessed 6 November 2019)
Rare Disease UK, 2019. Illuminating the Rare Reality. [Online] London: Rare Disease UK. Available at:
https://www.raredisease.org.uk/our-work/illuminating-the-rare-reality-2019/ (Accessed 6 November 2019)
Genetic Alliance UK, 2019. Genome Sequencing and the NHS. [Online] London: Genetic Alliance UK. Available at:
https://www.geneticalliance.org.uk/our-work/diagnosis/whole-genome-sequencing-through-the-nhs/ (Accessed 6 November 2019)
Genetic Alliance UK, 2019. Fixing the Present Building for the Future: Newborn Screening for Rare Conditions. Genetic Alliance UK. Available at:
https://www.geneticalliance.org.uk/news-event/endorse-our-newborn-screening-patient-charter/ (Accessed 6 November 2019)
Department of Health and Social Care, 2019. The UK strategy for rare diseases: 2019 update to the implementation plan for England. [Online] London: Department of Health and Social Care. Available at:
https://www.gov.uk/government/publications/uk-strategy-for-rare-diseases-2019-update-to-the-implementation-plan-for-england (Accessed 6 November 2019)