This is a UK-wide consultation which was undertaken by the Department of Health on behalf of all 4 UK health administrations. The consultation on rare diseases was launched following the European Council’s recommendation that every member state of the European Union should develop a national strategy on rare diseases. Responses to the consultation will inform the final plan, which is due to be produced by the end of 2013.
The UK participates in rare disease research at European level and will be actively involved in the new International Rare Disease Research Consortium.
Executive summary:
Rare diseases can affect physical or mental health or both. More than 5,000 rare diseases have been identified.
Diagnosis of a rare disease is difficult and delays may occur. Sometimes it is obvious that there is a problem, but expertise is needed to establish the precise diagnosis. Clear referral pathways to expert centres can help in this situation. But sometimes a rare disease is not even suspected. In this situation, computer prompts for GPs, similar to those already used to alert GPs to issues in prescribing, are a promising avenue to explore.
Screening at birth for some rare diseases is another way to avoid delay in diagnosis. There are already national screening programmes for several rare diseases. The United Kingdom National Screening Committee advises Ministers and the NHS in the four United Kingdom countries on all aspects of screening.
Training of medical and other staff in the NHS is among the best in the world, but we must not be complacent. We need to ensure, through both basic training and continuing professional development, that all doctors are alert to the possibility of a rare disease when they see a patient.
Coding and classification issues are important if we are to understand fully the burden of rare disease. The current, 10th, version of the International Classification of Disease (ICD 10) does not serve well for rare disease. A new revision is expected in 2015 which should resolve this problem.
The United Kingdom is at the cutting edge of international research in rare disease. Most of the biomedical research centres funded by the National Institute for Health Research (NIHR) are conducting research on rare disease. The UK participates in rare disease research at European level and will be actively involved in the new International Rare Disease Research Consortium (IRDiRC).
There is a consensus among experts and people with rare conditions that expert centres caring for people with rare and complex disorders must have the following characteristics:
- co-ordinated care;
- adequate caseload for expertise;
- not dependent on a single clinician;
- arrangements for transition from children’s to adults’ services;
- engaged with people with rare conditions;
- research active.
Networks are a crucial part of any system of care for rare disease. Two types of network are required. Firstly, expert centres must network with each other to devise protocols, agree consensus documents, collaborate in research and seek each other’s advice on particular patients. The second type is the network of local hospitals which refer patients to the expert centre. Each expert centre must know which local hospitals it has responsibility for, and the local hospitals must know which expert centre they can look to for help, support, advice and assistance. This does not preclude patient choice but strong links between each centre and its referring hospitals are the foundation of good co-ordinated care.
In order to stimulate the development and marketing of new drugs for rare diseases, the European Union offers a range of incentives. The UK takes an active role in the decision making process for this ‘orphan medicine’ arrangement. Where effective new medicines become available for the treatment of rare and very rare conditions, patients are, understandably, concerned that they should have access to the drugs that their doctors recommend. Our priority is to give NHS patients better access to effective and innovative medicines and that is why we are working towards a new system of pricing for branded medicines, where the price of a drug will be linked to its assessed value.
Expert clinical teams can offer advice and treatment but the real experts in living with a rare disease are of course the people suffering from the disease and their families. In the United Kingdom there is a wide range of patient organisations which offer help and support to people with rare disease.
Information is key to patient empowerment. Newly diagnosed patients and their families need information in a variety of languages and formats, and the information must be supplied at a pace that people struggling to come to terms with often devastating news can understand. Personalised care plans are an important element in the care of any patient with a long-term condition. This empowers patients and their carers and ensures a coherent approach from all those involved in the care plan.
Information is widely available on the internet but quality is variable. The UK participates in the Orphanet website, which is quality assured and one of the most comprehensive websites on rare disease in the world. The NHS also provides information on a variety of websites such as NHS Inform, NHS Evidence and NHS Choices.
Registers are a key tool in the struggle to understand rare disease. They are key to high quality care despite the fact that they have often regarded as the domain of researchers but people with rare disease see value in being included on a register. It is the route to trials of new therapies, but also gives people a hope for the future and the comfort that they are not forgotten and not alone. A plan must be sustainable and affordable within existing resources.
