It's Not Rare to Have a Rare Disease

The Implementation Plan for Rare Diseases in Scotland


UK Strategy Commitments

23. Continue to develop service specifications for rare diseases. This will include country specific care pathways and a 'generic' care pathway that sets out best practice that can be applied to all patients with rare diseases in the UK (particularly where there are no disease specific pathways). The generic care pathway will include:

  • an appropriate care plan for all patients with a rare disease
  • clearly stated principles around the standards of care which patients with a rare disease can expect, including patients with no diagnosis
  • the development of seamless pathways for transition, from childhood to adolescence, and on to adulthood and older age
  • access criteria and measures of quality and outcomes.

24. Agree that specialist clinical centres should as a minimum standard:

  • have a sufficient caseload to build recognised expertise
  • where possible, not depend on a single clinician
  • coordinate care
  • arrange for coordinated transition from children's to adults' services
  • involve people with rare conditions, and their families and carers
  • support research activity
  • ensure their expertise is available to families and their healthcare teams.

25. Ensure that the relationship between the specialist clinical centres and science and research is explained to and understood and put into practice by: practitioners delivering local health and social care; the research community; industry; academia.

26. Set out clearly the connections to and communications with Specialist Clinical Centres in molecular diagnostics and other forms of diagnostic support.

27. Ensure that specialist clinical centres are as concerned with research as with health and social care support, and that they develop networks that provide professional-to-professional dialogue and collaboration across a wide range of experts, including internationally (especially for those conditions that are ultra-rare).

28. Work with international partners wherever possible and develop UK-wide criteria for centres to become part of an expert reference network to increase the flow of information between patients and professionals in a range of disciplines.

29. Improve systems to record genetic and other relevant information accurately to detail the incidence and prevalence of disease and to support service planning and international planning.

30. Identify how they can change systems to hold information about rare diseases, including information about the uptake of treatments.

Where we are now

The route map to the 2020 vision asserts that there is "…a strong consensus that to further improve the quality of care provided in Scotland there is a need for an expanded role for primary care and general practice in particular". Some patients with rare diseases also need support from a range of specialists and hospital departments, making a multidisciplinary and co-ordinated team approach important.

Integration of adult health and social care is a key part of the Scottish Government's commitment to public service reform in Scotland. We will continue to drive forward the widely endorsed commitment to integrating health and social care services in Scotland. Preparatory work is under way with NHS Boards, Local Authorities, third and independent sector partners and including development and delivery against new Single Outcome Agreements and the building of effective Integrated Health and Social Care Partnerships.

The efficient co-ordination of care for people with rare diseases and sharing of relevant clinical information is also important in effectively targeting resources to improve support to patients and families and to improve associated clinical and social care outcomes.

Participation in Rare Disease Registers

Scotland participates in a number of rare disease related registers, including the British Paediatric Orphan Lung Disease Registry (Edinburgh); the European Huntington's Disease Network Registry; the Hereditary Haemorrhagic Telangiectasia Mutation Database (Edinburgh); the UK Cystic Fibrosis Database and the Glasgow Registry of Congenital Anomalies (part of BINOCAR (British Isles Network of Congenital Anomaly Registers) and EUROCAT (European Surveillance of Congenital Abnormalities) networks). An MS register aims to provide an accurate estimate of MS incidence and patient outcomes.

Where services for rare disease are nationally commissioned, each has a clear definition of its function and there are agreed patient pathways. When a patient needs treatment outside Scotland there are pathways through appropriate specialists and NSD to ensure access to highly specialist treatment.

Designated national specialist services in Scotland and the four regional Clinical Genetic Centres already adhere to the minimum standard[32] within the UK Strategy for Rare Diseases to be considered as Specialist Clinical Centres:

  • have a sufficient caseload to build recognised expertise
  • where possible, not depend on a single clinician
  • co-ordinate care
  • arrange for co-ordinated transition from children's to adults' services
  • involve people with rare conditions, and their families and carers
  • support research activity
  • ensure their expertise is available to families and their healthcare teams.

The Scottish Clinical Genetics Forum brings together the Regional Clinical Genetic Centres and others as indicated from the Genetic Alliance UK (a UK alliance of support groups for individuals and families affected by genetic disorders) National Services Division, and when appropriate healthcare specialities and patient organisations.

There are examples of good practice involving integration of genetic testing and treatment - such as in the paediatric epilepsy service in Scotland, described earlier.

From May 2014, patients and clinicians will be given a greater say on what new medicines are approved by the Scottish Medicines Consortium (SMC) for use in the NHS for end of life care and for treating very rare conditions.

As part of this, the Scottish Medicines Consortium is making two big changes to their drug approval processes. Firstly they are establishing a new Patient and Clinician Engagement (PACE) meeting to give patient groups and clinicians a stronger voice in SMC drug approval decisions. Secondly, a new Peer Approved Clinical System (PACS) will replace the former Individual Patient Treatment Request process for consideration of medicines not approved for regular use in the NHS.

For medicines used to treat very rare conditions (those affecting around 100 people in Scotland) in addition to the patient and clinician engagement approach the SMC will consider more than just the direct health impact on the patient.

Under the new approaches, pharmaceutical companies will have an additional opportunity to put forward a Patient Access Scheme, to make their medicines more affordable.

Co-ordination of care can be more challenging in remote and rural settings. The Scottish Government's 2008 action plan - Delivering for Remote and Rural Healthcare[33] guided action to deliver high quality sustainable healthcare to people living in remote and rural communities. All 63 actions were delivered. Since then, continuing developments have been a matter for the North of Scotland Regional Planning Group on behalf of all NHS Boards. However, it has also been recognised that further work needs to be done. To that end, a further, new programme of work funded by Scottish Government and led by NHS Highland is testing models of rural service delivery in primary care.

This work, over three years, involves modernising service delivery approaches to meet patient and community needs and to provide access to the full range of primary care, community care, and acute and specialist care. Associated work is also on-going to recruit and retain the health and care professionals needed to support comprehensive services.

NHS Scotland is committed to moving the upper age limit for its children's hospital services from age 13th to age 16th, with some flexibility up to 18 years. The change has been implemented in many hospitals and will apply in the new children's hospitals in Edinburgh and Glasgow. The adjusted age limits will create an opportunity to ensure that the transition of care to adult services takes place at a suitable time.

Next Steps Emerging from Discussion/Engagement with Stakeholders

Pathways for Rare Diseases

We will improve knowledge and appropriate utilisation by referring clinicians of pathways for rare diseases through:

  • Publication of patient pathways for rare disease and the referral requirements for services in and out of Scotland
  • Working with specialist services to develop clear diagnostic pathways for molecular diagnostics.

Specialist Centres

We will provide comprehensive support to and clinical management of patients with individual rare diseases through:

  • Ensuring Scottish and UK specialist centres bring together all appropriate investigation, diagnosis, treatment, support and research expertise for rare diseases
  • Keeping under review the relevance to patients of any potential development of specialist services.

Strategy and Policy on Rare Diseases

The Scottish Government will continue to participate, as appropriate, in the UK Rare Disease Stakeholder Forum. It will also, through its Implementation Oversight Group, engage with all relevant partners in the developments of actions and agreement of timescales to progress support and treatment for rare diseases.

Patient Data and Database Development

We will support service planning, co-ordination of care and monitoring of service delivery through:

  • Engagement between NSD, e-Health Strategy and NSS Public Health and Intelligence colleagues to consider how to best develop the IT database requirements for national managed clinical networks to collect systematic patient data
  • Ensuring appropriate data standards and coding methods are adopted and used in any rare disease database which is developed
  • Utilisation of existing UK, EU and international databases to provide NHS Scotland clinicians with the opportunity to monitor certain diseases and to produce data of benefit to research and to service planning
  • Sharing of anonymised information with partners across organisational and national boundaries in line with data protection requirements and taking particular care where conditions comprise small numbers to ensure individuals are not identified.


Email: Paul Currie

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