Rare disease: final progress report

Annex A: Progress against UK Rare Disease Strategy 51 Commitments

Scotland’s progress against each of the 51 commitments of the UK’s Rare Disease Strategy has been highlighted in this report. Progress has been monitored using RAG status: 

Red: for actions where no progress has been made.

Amber: for actions that have made progress.

Green: for completed progress against the commitments.

Empowering those affected by Rare Diseases (commitments 1-8)

1. Strengthen the mechanisms and opportunities for meaningful and sustained patient involvement in rare disease service provision and research, recognising patient groups as key partners – including in the development of the four country plans to implement the Strategy.

Green: This has been achieved through our Rare Disease Strategic Oversight Group (RDSOG); the commitments in the Chief Medical Officer for Scotland’s Realistic Medicine strategy; the House of Care Model for Scotland; the Our Voice website; the National Network Management Service; and the What Matters To You? initiative with Healthcare Improvement Scotland (HIS).

2. Improve awareness amongst service providers and others of the effects that rare diseases can have on a person’s education, family, social relationships and ability to work.

Green: Achieved by RDSOG; the House of Care model; Care Opinion; and the What Matters To You? initiative.

3. Encourage effective and timely liaison between the NHS and other public service providers, and encourage providers to consider the effects of rare disease on people’s lives when they are developing and managing services.

Green: Achieved by RDSOG; our Health and Social Care Delivery Plan; Making It Easy: A Health Literacy Plan for Scotland; the House of Care model; and the What Matters To You? initiative.

4. Make sure that patients and their families have a say in decisions about treatment and in the planning, evaluation and monitoring of services.

Green: Achieved as per Commitment 3 above and also the Realistic Medicine strategy.

5. Consider how to give all patients with rare disease clear and timely information about: their condition and its development; treatment and therapy options; practical support.

Green: Achieved through the National Clinical and Diagnostic Networks.

6. Improve access for patients (or where appropriate their parents or guardians) to their personal data.

Amber: Work is ongoing and will be assisted by the publication of a refresh of Scotland’s Digital Health & Care Strategy by the end of 2020.

7. Support patients to register on databases, where these exist.

Green: Achieved by the National Network Management Service; the Scottish Genetics Speciality Group, and SHARE, a new initiative by NHS Research Scotland.

8. Help patients to contribute to research and other activity related to rare disease.

Green: Achieved as per Commitment 7 above.

Identifying and Preventing Rare Disease (commitments 9-10)

9. Continue to work with the UK National Screening Committee to ensure that the potential role of screening in achieving earlier diagnosis is appropriately considered in the assessment of all potential new national screening programmes and proposed extensions to existing programmes.

Green: Achieved by the Scottish Screening Committee, established in 2016.

10. Initiate action to ensure carrier testing approved by the appropriate commissioning bodies, where the associated molecular tests are evaluated and recommended by UKGTN (UK Genetics Testing Network) is accessible for at risk relatives.

Green: Achieved by extending the Newborn Blood Spot Screening Programme for four additional rare conditions; by National Services Division establishing the Genetics Evaluation panel for Scotland; by making Somatic BR/CA1/2 testing for selected patients, and by Primary Immune Deficiency testing.

Diagnosis and Early Intervention (commitments 11-22)

11. Work to achieve reduced times for diagnosis of rare diseases, whilst acknowledging that more needs to be done to ensure that undiagnosed patients have appropriate access to co-ordinated care e.g. to help disabled children who are thought to have a genetic syndrome or condition that science has not yet identified.

Amber: Partly addressed by the Health and Social Care Delivery Plan. Work is ongoing, and will be assisted by National Clinical and Diagnostic Networks.

12. Work with the NHS and clinicians to establish appropriate diagnostic pathways which are accessible to, and understood by, professionals and patients, by:

• establishing clear, easily accessible and effective pathways between primary care, secondary care, regional centres and specialist clinical centres, as appropriate
• putting protocols in place to identify patients with no diagnosis, ensuring that a lack of diagnosis does not create a barrier to treatment
• drawing on patients’ ability to help inform decisions about referral and diagnosis
• creating effective clinical networks to support this process
• making high quality diagnostic tests accessible through common, clinically agreed systems or pathways
• embedding appropriate information in national data systems including measuring equity of access to molecular tests to maintain UKGTN diagnostic studies.

Green: Achieved by National Clinical and Diagnostic Networks, the Nationally Designated Specialist Services and The National Demand Optimisation Group (NDOG).

13. Ensure that there are appropriate procedures for evaluating the costs and benefits of treatments for patients.

Green: Achieved by the work taken forward from Dr. Brian Montgomery’s Review of Access to New Medicines and the ultra-orphan pathway developed by the Scottish Government.

14. Where appropriate, support the availability of computerised prompts to help GPs diagnose a rare disease when a rare disease has not previously been considered.

Green: Achieved through eHealth decision support tools, and the EU-funded RARE-Bestpractices research project that Healthcare Improvement Scotland contributed to.

15. Improve education and awareness of rare diseases across the healthcare professions, including:

• involving patients in the development of training programmes
• encouraging medical, nursing and associated health professionals to get hands-on experience in specialist clinics
• ensuring awareness of methods and clinical techniques used in differential diagnosis.

Amber: Good progress has been made through RDSOG; the National Network Management Service work and will continue through the post 2020 Action Plan.

16. Monitor the development of ICD-11 in preparation for its adoption.

Green: Achieved by RDSOG and the work to establish a congenital anomalies register for Scotland.

17. Work with colleagues in Europe in the development of the European Orphanet coding system and consider the adoption of Orphanet coding and nomenclature.

Green: Achieved by RDSOG and the work to establish a congenital anomalies register for Scotland.

18. Standardise data collection, building on existing NHS data standards, and develop standards where they do not exist, increasing the reliability of information for use in providing or commissioning care.

Green: Achieved by the National Network Management Service.

19. Explore options to improve the link between existing patient data and electronic health records.

Green: Achieved by RDSOG and commissioning of National Patient Portal.

20. Assess the potential for rare disease databases where they do not exist.

Green: Achieved by the work to establish a congenital anomalies register for Scotland.

21. Agree international standards, building on existing UK standards.

Green: Achieved by the work to establish a congenital anomalies register for Scotland.

22. Support international links to UK databases and build on the work of current funded programmes that aim to link rare disease research internationally.

Green: Achieved by RDSOG, the EU-funded RARE-Bestpractices research project that Healthcare Improvement Scotland contributed to and the work to establish a congenital anomalies register for Scotland.

Co-ordination of Care (commitments 23-30)

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 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 to criteria and measures of quality and outcomes

Amber: Good progress made through National Specialist Services Committee; National Network Management Services; National Managed Clinical Networks & Pathways; Access to specialist care in other parts of the UK; Specialist Centres, RDSOG and will continue through the post 2020 Action Plan.

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

• have a sufficient caseload to build recognised expertise
• where possible, not depend on a single clinician
• coordinate 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.

Green: All specialist centres in Scotland have a detailed specification and are regularly reviewed by NSD.

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.

Amber: Good progress made through access to specialist care in other parts of the UK; Specialist Centres and work will continue through the post 2020 Action Plan.

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

Green: The National Demand Optimisation Group (NDOG) contributes to this commitment.

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).

Green: All specialist centres in Scotland have a detailed specification and are regularly reviewed by NSD.

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

Green: European Reference Networks (ERNs) contribute to this commitment.

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.

Green: Achieved by the work of the Scottish Genomes Partnership.

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

Green: Achieved by SHARE, a new initiative by NHS Research Scotland.

The Role of Research (commitments 31-51)

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

Green: Achieved by RDSOG and the work to establish a congenital anomalies register for Scotland.

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.

Green: Achieved by the National Network Management Service.

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.

Green: Achieved through the work of Scottish Government’s Chief Scientist Office of centrally managing excess treatment costs to facilitate prompt approval of rare disease studies and activity-based funding of NHS Boards.

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.

Green: Achieved by SHARE, a new initiative by NHS Research Scotland.

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.

Green: Achieved by SHARE, a new initiative by NHS Research Scotland.

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

Green: Achieved through CSO and its continued policy of centrally managing excess treatment costs to facilitate prompt approval of rare disease studies and activity-based funding of NHS Boards.

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

Green: Achieved by SHARE, a new initiative by NHS Research Scotland.

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.

Green: Achieved by the Scottish Genetics Specialty Group.

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

Green: Achieved through the Research Active Scottish NHS Boards signing up to the Musketeer’s memorandum to facilitate approval of multi-centre rare disease clinical studies.

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

Amber: Work is ongoing and will continue to be monitored in the next phase of implementation.

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

Green: Achieved by the Scottish Genetics Laboratory Consortium.

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.

Green: Achieved by the work of the Scottish Genomes Partnership.

43. Evaluate the 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

Green: Achieved through the work of the Scottish Genomes Partnership.

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.

Green: Achieved through the work of the Scottish Genomes Partnership.

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 the support for evidence-based local counselling for patients and their relatives who receive NGS results.

Green: Achieved through the work of the Scottish Genomes Partnership.

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

Green: Achieved through the work of the Scottish Government’s Chief Scientist Office.

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

Green: Achieved through the work of the Scottish Genomes Partnership, the work of the Scottish Government’s Chief Scientist Office and the Scholarship work in the name of Gordon Aikman towards Motor Neurone Disease.

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

Green: Achieved through the work of the Scottish Genomes Partnership, the SHARE initiative, and the work of the Scottish Government’s Chief Scientist Office.

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

Green: Achieved through the work of the Scottish Genomes Partnership and the SHARE initiative.

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

Green: Achieved through the work of the Scottish Genomes Partnership and the SHARE initiative.

51. Improve engagement between key stakeholders, including:

• Patients and relatives
• Main funding providers
• Healthcare commissioners
• NHS hospitals and specialist care units
• Industry (pharmaceutical, biotechnology, IT, diagnostics).

Amber: Work is ongoing and will continue to be monitored in the next phase of implementation.