It's Not Rare to Have a Rare Disease

The Implementation Plan for Rare Diseases in Scotland


UK Strategy Commitments

31. Look at how the 4 UK countries develop, change or expand information systems to capture, connect and analyse data about clinical and social care pathways.

32. Work together to identify a selection of the rare diseases most suited to the development of best-care pathways and propose other rare diseases for possible pathway development, taking on board the needs of patients and carers and the challenges faced during delivery of the first set of pathways.

33. Examine how they can encourage service providers to involve patients in research and to ensure appropriate funding for excess treatment costs for research in rare diseases.

34. Make better use of online applications to give patients information about their condition so that they can develop a personalised care path plan with their clinical and social care team.

35. Use portals to connect patients and relatives to enhance research participation and, where appropriate, promote self-enrolment to approved research studies with online consenting, self-reporting and use of social media.

36. Encourage patient groups to get involved with regulatory bodies.

37. Help patient organisations and community engagement events develop more formal partnerships with the NHS research-active organisations.

38. Explore the feasibility of the UK Clinical Trials Gateway including experimental medicine trials for rare diseases to provide information for patients and their families about research trials.

39. Work with the research community, regulators, providers of NHS services and research funders to develop risk-proportional permission systems.

40. Encourage researchers to use current guidance to produce generic participant information leaflets and consent forms and participate in future guidance reviews.

41. Promote good practice and the use of systems which facilitate a consistent and streamlined process to local NHS permissions of publically, charitably and commercially funded research with an aim to reduce timescales.

42. Begin and complete next generation sequencing (NGS) demonstration projects to: evaluate their usefulness, acceptability and cost-effectiveness; develop effective health economic assessments (for example through Health Technology Assessments) and similar initiatives.

43. Evaluate different NGS platform configurations, for example:

  • NGS for clinical condition-specific sets of genes (such as 100-200 of the 22,000 genes)
  • whole exome sequencing (2% of the entire genome)
  • whole genome sequencing.

44. Support the introduction of NGS into mainstream NHS diagnostic pathways, underpinned by appropriate clinical bioinformatics, including clinical bioinformatics hubs supported by high performance computing centres, where appropriate.

45. Ensure that training and education are available to the NHS workforce, highlighting the importance of NGS to all aspects of rare disease care, including support for evidence based local counselling for patients and their relatives who receive NGS results.

46. Work with industry to set priorities and determine how best to support research into rare diseases and promote research collaboration.

47. Support initiatives to facilitate engagement between patients, clinical care teams, researchers and industry wherever practical.

48. Set out the benefits of collaboration (besides producing specific treatments) for all stakeholders.

49. Continue to build a cohesive infrastructure for implementation and coordination of rare disease research in the NHS.

50. Encourage major research funders to use current structures to coordinate strategic funding initiatives in rare diseases.

51. Improve engagement between key stakeholders, including:

a. patients and relatives
b. main funding providers
c. healthcare commissioners
d. NHS hospitals and specialist care units
e. industry (pharmaceutical, biotechnology, IT, diagnostics).

Where we are now

Scotland and the rest of the UK are leaders in research into rare diseases. By improving the link between research and services for patients we will promote a culture of innovation. This is expected to lead to faster access to evidence based care. The basic and translational research needed to achieve these benefits for society will also require international collaboration, particularly for extremely rare diseases.

Academic, health and commercial research bodies have an important role in developing research for rare diseases and in translating the research into treatment interventions. Partnership working provides opportunities to combine financial, intellectual and production resources to take research from concept, to the laboratory, to clinical trials, to production of patient treatments.

The Chief Scientist Office (CSO) research strategy for 2010-14 'Investing in Research: Improving Health'[34] emphasises the need to fund experimental and translational medicine research alongside health service and health population research. A new CSO research strategy is out for consultation from the beginning of July 2014 and will actively seek the views of the rare disease community.

An example of best practice in research is the Anne Rowling Regenerative Neurology Clinic which combines clinical and laboratory research approaches to investigate neurodegenerative diseases. Opened in October 2013, the clinic currently focusses on multiple sclerosis, motor neurone disease and related neurodegenerative conditions.

The Scottish Health Research (SHARE) Register

The SHARE Register has created a database of up to 1 million people in Scotland prepared to be approached directly about possible participation in research. Through linkages to health records, this facilitates the identification and recruitment of patients into clinical studies. This approach to register development has the potential to be extended to people with rare diseases.

An example of CSO-supported research is the 'Orcades' study looking at genetic factors in complex disorders in the population of Orkney. The Orcades research will provide a better understanding of the genetics of diseases, including MS and their stratification, potentially allowing the development of future targeted therapies. As Scotland has the distinction of having amongst the highest rates of MS in the world and as the rate is the highest in the Orkney Islands[35], this condition is of particular relevance. This approach provides a model for research in other diseases in which genetics feature.

Clinicians, academics, researchers and research institutions in Scotland are active in the field of research in rare diseases, in collaboration across the UK and for some conditions, with EU colleagues.

Collaboration in Research

NHS Research Scotland (NRS) is a partnership involving NHS Boards and the CSO. The NRS Industry Partnership Forum provides a valuable opportunity to discuss with industry future collaborations, including research into rare diseases.

CSO participates in the UK Clinical Trials Gateway along with the other countries of the UK as part of its involvement in the National Institute for Health Research. It has worked with the Scottish Research Ethics Committees to put in place a system of proportionate review. This has been aligned and contributed to the work of the UK-wide compatibility group. CSO has also endorsed the HRA work in creating generic consent forms.

The NHS Research Scotland (NRS) Permissions Co-ordinating Centre based in NHS Grampian is a single, centralised point of contact for researchers and companies wishing to conduct multicentre clinical research in Scotland. It liaises directly with NHS Board Research and Development (R&D) offices to identify investigators and streamline the Scottish R&D permissions process.

CSO is reviewing aspects of the NHS Research Scotland infrastructure in order to ensure that Scotland remains a leader in attracting and delivering clinical research. Scotland is represented by CSO on UK-wide bodies including the Stratified Medicine Innovation Platform, the National Cancer Research Institute and the Medical Research Council UK Dementias Forum. These bodies have a remit which includes the co-ordination of strategic funding initiatives.

In the last year CSO has entered into collaboration with rare disease charities, agreeing for example, to co-fund a Clinical Research Fellowship in partnership with Action Duchenne and the Muscular Dystrophy Campaign.

In Scotland, Research Ethics Committee approval timescales are good and the time taken for Research and Development approval for non-commercial studies continue to fall. Further, NHS Boards have agreed to participate in a rare disease initiative under which certain types of rare disease studies will be expected through the approvals process.

Scotland's forthcoming reorganisation of national network support structures will consider how rare disease research can be better supported.

The development of a single costing model across NHS Scotland for both commercial and non-commercial studies has been implemented.

To ensure success clinical research needs patient participation. In rare disease research the smaller numbers of available patients require particular efforts by research teams to recruit enough research subjects.

To encourage patient participation in research, CSO has supported development of the information leaflets - 'Clinical trials: what they are and what they're not' and 'Understanding Clinical Trials'. These are designed to provide potential trial recruits with clear information on taking part in research.

Simplifying Research Approvals in Genetics

The National Institute for Health Research, UK Rare Genetic Disease Research Consortium Agreement (colloquially called the Musketeer's Memorandum[36]) is a national agreement signed up to by all host organisations for the regional genetics centres, including the four in Scotland: NHS Grampian; NHS Tayside; NHS Lothian and NHS Greater Glasgow and Clyde.

The agreement is applicable to non-CTIMP[37] rare disease projects which have minimal local hospital costs. This ensures that when a regional genetics centre, supported by their host organisation, develops a rare disease non-CTIMP project, the local approval is applied to equivalent research in all the other regional genetics centres, without any further administrative work.

The CSO supported Public Involvement Group comprises lay volunteers from a variety of backgrounds. Regular training provides the volunteers with information to support their role in providing a lay perspective to inform CSO policy and in their membership of the Experimental and Translational Medicine Research Committee, the Health Services and Population Health Research Committee, the Chief Scientist Committee, and other working groups. Volunteers provide assistance in ensuring communications on science make use of clear language understandable to the general public.

Stratified Medicines

The application of genetics techniques is increasing understanding of diseases and how individual patients respond to medications, based on their genetic profile. This knowledge has the potential to assist in tailoring drugs to the genetic makeup of individual patients to increase the efficacy of treatment and to reduce undesirable side-effects. Such 'personalised'/stratified medicines are currently in development. The first such medicines are now being prescribed in Scotland after appropriate genetic testing.

A Stratified Medicine Scotland Innovation Centre (SMS-IC) is to be built by 2015 within the new South Glasgow Hospitals Campus. This centre will bring together Scottish universities, NHS Scotland and industry partners to work collaboratively in the area of biomarkers and genomics. The focus on practical application should ensure that the outputs have relevance to the NHS.

Genetics and Bio-bank

The Scottish Government supported initiative 'Generation Scotland'[38] is developing a bio-bank of human biological samples which is available to academic researchers and to commercial companies for medical research.

This partnership between the Scottish University Medical Schools and NHS Scotland has accrued samples from 30,000 people from across Scotland. The majority of people providing these samples have consented for them to be linked to their medical records and have agreed to consider possible participation in future research.

There are a number of tissue banks outwith Generation Scotland which accept tissue donations. These are typically partially-funded from CSO, are both University and NHS based and have the potential to add value in rare disease research. In the medical teaching centres these tissue banks are integrated into the Pathology Departments. This provides a link between the Scottish Pathology Network[39] (SPAN), its network members and research and development in rare disease.

Scotland is also participating in the UK Bio-bank. Access to bio-bank resources is important in the study of factors influencing rare diseases.

Next Steps Emerging from Discussion/Engagement with Stakeholders

Research Dissemination

We will support rare disease research through the Chief Scientist Office and publicise to all stakeholders the work carried out in science and research to improve outcomes for people with rare diseases through:

  • Continuation of the activity based funding scheme which rewards NHS Boards for recruiting patients into trials
  • Continuation of the central management of excess treatment costs to facilitate prompt approval of rare disease studies
  • Maintenance of the CSO's success in streamlining research governance through collaboration with the HRA (Health Research Authority) and others
  • Maintenance of the current multicentre study mean approval times of 21 working days for commercial and 15 working days for non-commercial studies
  • Continuation of co-funding for research projects and capacity building initiatives with research charities working on rare diseases and pursuit of opportunities for joint working in rare disease research
  • Continuation of the SHARE Register, maintaining its important role in supporting the participation in research of people from across the population
  • Exploration of the development of online application processes and registers of interest for people with rare disease wishing to participate in relevant research
  • Ensuring that rare disease research is fully supported in the reorganised clinical research infrastructure for NHS Scotland and that Scotland is represented on any proposed rare disease strategic research initiative.


We will support the developing role of genetics in rare diseases through:

  • Continuation (and evaluation as the technology develops) of the use of small next generation sequencing (NGS) devices in all 4 Scottish Genetics Laboratories and mainstreaming of NGS as appropriate into NHS diagnostic pathways
  • Participation between NHS Education Scotland, NSD, the Genetics Laboratory Consortium and the Molecular Pathology Consortium in the review of future scientist staffing requirements to support future developments in genetic testing
  • Maintenance of the commitment of the four regional genetics centres to the UK Rare Genetic Disease Research Consortium Agreement.


Email: Paul Currie

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