Many patients with rare, genetic and undiagnosed conditions need multi-disciplinary and coordinated care to manage their condition. Most patients, however, do not receive coordinated care and feel they are left to organise their own care. In a number of studies carried out by Rare Disease UK, it was found that information is not shared effectively between hospital trusts, or between specialist and local services (Rare Disease UK, 2010; 2013; 2016; 2017). Poor care coordination is expensive for both the patient and also for the NHS (Genetic Alliance UK, 2016).
The All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions found that patients do not have access to appropriate treatment or information about their condition, and often do not feel involved in decisions about their care and treatment (Rare Disease UK, 2017).
Effective treatments exist for only a minority of rare conditions, yet patients face significant barriers in trying to access these treatments. Complexities in appraisal and commissioning processes have led to inconsistent decisions that result in inequitable access to medicines for patients with rare conditions (Genetic Alliance UK, 2015).
A diagnosis is often the key to unlocking access to effective medical care and treatment. However, patients and families frequently experience delays in gaining an accurate diagnosis. On average, rare disease patients have to wait for four years to get a diagnosis (Rare Disease UK, 2016). A majority of patients receive at least one incorrect diagnosis and visit numerous doctors before they receive a final diagnosis. Misdiagnosis can prevent access to effective treatments, lead to incorrect, potentially damaging and costly treatments being prescribed and even cause deterioration in the condition (Rare Disease UK, 2016). Furthermore, the high number of patient-doctor interactions currently required to secure a diagnosis puts unnecessary strain on NHS resources: with improved diagnostic pathways this could be reduced.
There are over 6,000 known rare conditions, the vast majority of these conditions cannot currently be cured and most have no effective treatments. For many patients the day-to-day challenges of managing their condition are made worse by the absence of an effective treatment. Patients, families and carers look towards research and innovation to develop therapies and treatments that may alter the course of their condition or improve the quality and length of their lives.
Research is fundamental to improving the understanding of rare conditions. It can result in a variety of benefits, including: increasing awareness of a disease, developing a treatment, improving diagnosis opportunities, uncovering information that will increase medical knowledge and even help improve the health of the general population.
Where research has been successful in identifying a new therapy, there are still a number of barriers that must be overcome before patients are able to benefit from that research discovery. This includes ensuring that there are appropriate frameworks in place for licensing medicines for rare conditions.
International collaboration in the rare and genetic disease community is fundamental to bringing change to care and treatment. By their very nature it is likely that for rare conditions there may be too few patients within any one country to advance treatment and research alone. Collecting and analysing large amounts of patient data internationally makes it possible to make meaningful progress in understanding a condition and the effectiveness of new treatments.
As a world leader in genome sequencing research, the UK benefits greatly from being able to share information internationally. It is not possible to validate a genetic sequence for a suspected impact on health without further examples of its occurrence.
Genetic Alliance UK is the national charity working to improve the lives of patients and families affected by all types of genetic conditions. We are an alliance of over 190 patient organisations. Our aim is to ensure that high-quality services, information and support are provided to all who need them. We actively support research and innovation across the field of genetic medicine.
Rare Disease UK is a multi-stakeholder campaign run by Genetic Alliance UK, working with the rare disease community and the UK's health departments to effectively implement the UK Strategy for Rare Diseases.
SWAN UK (syndromes without a name) is a patient and family support service run by Genetic Alliance UK. SWAN UK offers support and information to families of children with undiagnosed genetic conditions.
Genetic Alliance UK, 2015. Patient perspectives and priorities on NHS England’s commissioning of medicines for rare diseases: Patient Charter. [Online] London: Genetic Alliance UK. Available at: http://www.geneticalliance.org.uk/media/1575/nhsenglandpatientcharter.pdf [Accessed 8 May 2017].
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-fullreport_21916-v2-1.pdf [Accessed 8 May 2017].
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 8 May 2017].
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 8 May 2017].
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 8 May 2017].
Rare Disease UK, 2017. Leaving no one behind: Why England needs an implementation plan for the UK Strategy for Rare Diseases. [Online] London: Rare Disease UK. Available at: [Accessed 5 May 2017].