Rare Disease Scotland: progress report

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.

The use of existing NHS Board patient and public involvement structures and the Health and Social Care Partnerships arrangements as these develop.

1.1 Rare Disease Implementation Oversight Group
1.6 What Matters to You?
1.8 Our Voice
1.9 National Specialist Services Committee
1.10 National Network Management Services
1.13 Franks Law

Ongoing – will be monitored during the next phase of implementation.

The creation of opportunities for patients with a rare disease to participate in decisions about all aspects of their care, support and treatment.

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.

Consideration of how the Person-Centred Health and Care Collaborative can best take account the needs of people with rare diseases.

1.5 House of Care Model
1.6 What Matters to You?
1.7 Care Opinion
1.8 Our Voice
1.9 National Specialist Services Committee
1.10 National Network Management Services
1.12 Provision of Communication Equipment
1.13 Franks Law

Ongoing – will be monitored during the next phase of implementation.

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.

1.2 Health & Social Care Delivery Plan
1.4 Making it Easy: Health Literacy
1.5 House of Care Model
1.6 What Matters to You?
1.7 Care Opinion

Ongoing – will be monitored during the next phase of implementation.

Empowering Those Affected by Rare Diseases

4

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

Publicising the Patient *Care* Opinion website and utilising SMS, social media, ‘apps’ and other communication technologies to provide patients with rare disease and families with opportunities to feedback on their experience of services.

1.2 Health & Social Care Delivery Plan
1.3 Realistic Medicine
1.4 Making it Easy: Health Literacy
1.5 House of Care Model
1.6 What Matters to You?
1.7 Care Opinion
1.8 Our Voice
1.9 National Specialist Services Committee
1.10 National Network Management Services
1.12 Provision of Communication Equipment

Ongoing – will be monitored during the next phase of implementation via the Communications plan.

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.

Consideration of the development of current NHS Inform resources to provide access for people with rare diseases and their families to clear information on relevant conditions in a range of accessible formats, including links to third sector information resources.

1.2 Health & Social Care Delivery Plan
1.3 Realistic Medicine
1.4 Health Literacy
1.5 House of Care Model
1.6 What Matters to You?
1.11 Health & Social Care Standards
1.13 Franks Law

Work has started and will continue through the next phase of implementation.

Opportunities arising from the Person-centred eHealth Strategy and Delivery Plan.

The RDIOG has contributed to the Digital Health and Care Strategy for Scotland.

6

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

We will explore with relevant agencies the applicability/practicability of registers and the opportunities to develop a patient electronic health record.

1.12 National Patient Portal

Ongoing – will be monitored during the next phase of implementation.

7

Support patients to register on databases, where these exist.

Staff in appropriate roles seeking to signpost individuals with rare disease to further information on research and clinical trials and opportunities to participate.

1.15 Scottish Genetics Speciality Group
5.1 SHARE

Ongoing – will be monitored during the next phase of implementation.

8

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

9

Continue to work with the UK NSC 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.

Consider the introduction in Scotland of recommendations from the UK NSC.

2.1 Introduction of new screening tests
2.2 The Scottish Screening Committee

Ongoing – will be monitored during the next phase of implementation.

10

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

Continue to ensure access for people in Scotland and families to UKGTN approved carrier testing, extending coverage as appropriate.

2.3 UK Genetic Testing Network

Ongoing – will be monitored during the next phase of implementation.

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.

Review by NHS Boards, NSD & Managed Diagnostic Networks of the input of diagnostic specialities to rare disease diagnosis and consideration of how delays may be reduced.

1.2 Health & Social Care Delivery Plan
1.9 National Specialist Services Committee
1.10 National Network Management Services
3.7 RARE Best Practice
4.4 National Demand Optimisation Group

Ongoing – will be monitored during the next phase of implementation.

To make rare disease guidelines accessible via a single point online database - delivered by the RARE-Best Practice project.

Ongoing – will be monitored during the next phase of implementation.

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.

NSD action to increase awareness among clinicians in Scotland of criteria for patient referral to diagnostic pathways for Scottish or English specialist centres.

3.1 National Managed Clinical Networks & Pathways
3.2 Decision support tools for H&S care
3.6 Data Short-life Working Group
4.3 Specialist Centres
4.4 National Demand Optimisation Group

The Scottish Implementation Plan action is complete.

Obtaining the input of primary care to the development of appropriate pathways for diagnosis, treatment and support.

Ongoing through various workstreams. Will continue to be monitored during next phase of implementation.

Consideration of the adaptation of RefHelp (Lothian Referral Guidelines) to include rare disease pathways to assist GPs in the recognition, management and referral patients with rare disease.

Will be considered during the next phase of implementation.

13

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

3.5 The Montgomery Review

Ongoing – will continue to be monitored during next phase of implementation.

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.

Exploration by NSS Public Health and Intelligence of how rare disease decision support systems and other rare disease software systems may feature in the future development of IT systems in NHS Scotland, ensuring these are interoperable with GP clinical systems.

3.2 Decision support tools for H&S care

Ongoing – will continue to be monitored during next phase of implementation.

Consideration of the inclusion within post-graduate training of appropriate content on diagnostic skills relevant to rare disease.

To be discussed with NES.

Engagement with NSS Public Health and Intelligence to carry out a stocktake of rare disease databases to scope what existing patient data systems exist, where these are held and how they might be improved.

Complete

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.

Use rare disease information to help improve decision making as part of a learning care system in Scotland.

Ongoing – this will be monitored during the next phase of implementation.

Exploration of options for inclusion of input from patients with rare diseases into the post-graduate training programmes for doctors, nurses and allied health professionals.

Will be considered during the next phase of implementation.

Consideration of the inclusion within post-graduate training of appropriate content on diagnostic skills relevant to rare disease.

Will be considered during the next phase of implementation.

Supporting the development of higher specialist training in genetics for medical and scientific staff to develop sustainability in the genetic workforce.

Will be considered during the next phase of implementation.

Developing awareness raising of rare disease among midwifery, health visiting and GP professions.

Will be considered during the next phase of implementation.

16

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

Consideration by NSS Public Health & Inteligence of the best means by which to tackle the limitations affecting data capture arising from the use of existing coding systems such as ICD-10 and link to the roll out of ICD-11.

3.6 Data Short Life Working Group

Ongoing – will continue to be monitored during next phase of implementation.

17

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

Publicising Orphanet as appropriate to NHS Boards, staff groups, training organisations, universities and others across NHS Scotland.

3.6 Data Short Life Working Group

Ongoing – will continue to be monitored during next phase of implementation.

Consideration of the input Scotland should have into Orphanet, either independently or as part of UK joint work and the feasibility of using Orphanet over and above exisitng data recording systems, without creating different systems and standards.

Complete. Scoping work undertaken and Orphanet not suitable for the purpose of coding. ICD-11 codes to be used.

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.

Engagement with NSS Public Health and Intelligence to carry out a stocktake of rare disease databases to scope what existing patient data systems exist, where these are held and how they might be improved.

3.6 Data Short Life Working Group

The scoping work for the Scottish action is complete. Work on data will go forward during the next phase of implementation.

19

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

We will explore with relevant agencies the applicability/practicability of registers and the opportunities to develop a patient electronic health record.

1.14 National Patient Portal
3.6 Data Short Life Working Group

Complete - The scoping work for the action is complete.

Exploration, through NHS Board eHealth leads and NSS Public Health & Intelligence of the feasibility of developing links between NHS Board patient information portals to support patients at diagnosis and to assist in providing co-ordinated and informed care.

Work on data will go forward during the next phase of implementation.

20

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

Mapping of existing nationally held data-sets to assess which have sufficiently detailed clinical coding to identify patients with rare disease.

3.6 Data Short Life Working Group

Ongoing – will continue to be monitored during next phase of implementation.

21

Agree international standards, building on existing UK standards.

Exploration of opportunities to develop links between UK databases, Scotland specific databases and relevant international databases.

3.6 Data Short Life Working Group

22

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

3.6 Data Short Life Working Group
3.7 RARE Best Practice

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.

Publication of patient pathways for rare disease and the referral requirements for services in and out of Scotland.

1.9 National Specialist Services Committee
1.10 National Network Management Services
3.1 National Managed Clinical Networks & Pathways
4.2 Specialist Care in the UK
4.3 Specialist Centres

Ongoing – will continue to be monitored during next phase of implementation.

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.

NSD action to increase awareness among clinicians in Scotland of criteria for patient referral to diagnostic pathways for Scottish or English specialist centres.

4.2 Specialist Care in the UK
4.3 Specialist Centres

Complete.

All national specialist services in Scotland have specifications in place which are reviewed regularly. This is the template which any new centre will also follow.

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.

Ensuring Scottish & UK specialist centres bring together all appropriate investigation, diagnosis, treatment, support and research expertise for rare diseases.

4.2 Specialist Care in the UK
4.3 Specialist Centres

Ongoing – will continue to be monitored during next phase of implementation.

26

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

Working with specialist services to develop clear diagnostic pathways for molecular diagnosis.

4.4 National Demand Optimisation Group
4.5 Genetics Laboratory Consortium

Ongoing – will continue to be monitored during next phase of implementation.

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).

Keeping under review the relevance to patients of any potential development of specialist services.

4.3 Specialist centres

Complete.

All National Services in Scotland is involved in research. Each Annual Report includes a section on research.

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.

4.1 European Reference Networks.

Ongoing – will continue to be monitored during next phase of implementation.

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.

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 NHSScotlandclinicians with the opportunity to monitor certain diseases and to produce data of benefit to research and to service planning.

3.6 Data Short Life Working Group
5.2 Scottish Genomes Partnership
3.6 Data Short Life Working Group
3.7 RARE Best Practice

Ongoing – will continue to be monitored during next phase of implementation.

30

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

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.

3.2 Decision support tools for H&S care
3.6 Data Short Life Working Group

Ongoing – will continue to be monitored during next phase of implementation.

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.

Exploration of opportunities to develop links between UK databases, Scotland specific databases and relevant international databases.

3.5 Data Short Life Working Group

Ongoing – will continue to be monitored during next phase of implementation.

32

Work together to identify a selection of 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.

Publication of patient pathways for rare disease and the referral requirements for services in and out of Scotland.

3.1 National Managed Clinical Networks & Pathways

Ongoing – will continue to be monitored during next phase of implementation.

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.

Utilisation of existing UK, EU and international databases to provide NHS clinicians with the opportunity to monitor certain diseases and to produce data of benefit to research and to service planning.

5.4 Co-funding of research

Ongoing – will continue to be monitored during next phase of implementation.

Continuation of the central management of excess treatment costs to facilitate prompt approval of rare disease studies.

The CSO has continued its policy 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.

Continuation of the SHARE Register, maintaining its important role in supporting participation in research of people from across the population.

5.1 SHARE

Ongoing – will continue to be monitored during next phase of implementation.

Exploration of the development of online application processes and registers of interest for people with rare disease wishing to participate in relevant research.

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.

Exploration of the development of online application processes and registers of interest for people with rare disease wishing to participate in relevant research.

5.1 SHARE

Complete.

The SHARE register is the national health research space for Scotland.

36

Encourage patient groups to get involved with regulatory bodies.

Health Improvement Scotland is the regulator for healthcare – consideration will be given to this commitment during the next phase of implementation.

37

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

Continuation of the activity based funding scheme which rewards NHS Boards for recruiting patients into trials.

5.1 SHARE

Complete.

The SHARE register is the national health research space for 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.

Maintenance of the CSO’s success in streamlining research governance through collaboration with HRA and others.

CSO has been fully involved in the establishment of the HRA procedures and has been working with colleagues across the 4 devolved nations to ensure seamless cross border working. This is of particular relevance to rare disease studies which may need to recruit patients from across the UK.

Ensuring that rare disease research is fully supported in the reorganised clinical research infrastructure for NHSScotlandand that Scotland is represented on any proposed rare disease strategic research initiative.

39

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

Maintenance of the current multicentre study mean approval times of 21 working days for commercial and 15 working days for non-commercial studies.

Complete.

The Research Active Scottish NHS Boards have signed up to the Musketeer’s memorandum thereby facilitating 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.

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.

Ongoing – will continue to be monitored during 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 publically, charitably and commercially funded research with an aim to reduce timescales.

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.

4.5 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.

Continuation (and evaluation as the technology develops) of the use of small next generation sequencing ( NGS) devices in all Scottish Genetics Laboratories and mainstreaming of NGS as appropriate into NHS Diagnostic pathways.

4.5 Genetics Laboratory Consortium
5.2 Scottish Genomes Partnership
5.3 Next Generation Sequencing

Ongoing – will continue to be monitored during next phase of implementation.

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

4.5 Genetics Laboratory Consortium
5.2 Scottish Genomes Partnership
5.3 Next Generation Sequencing

Ongoing – will continue to be monitored during next phase of implementation.

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.

4.5 Genetics Laboratory Consortium
4.6 LIMS
5.2 Scottish Genomes Partnership
5.3 Next Generation Sequencing

Ongoing – will continue to be monitored during next phase of implementation.

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.

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.

4.5 Genetics Laboratory Consortium
5.2 Scottish Genomes Partnership

Ongoing – will continue to be monitored during next phase of implementation.

46

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

Continuation of co-funding for research projects and capacity building initiatives with research charities working on rare disease and pursuit of opportunities for joint working in rare disease research.

5.4 Co-funding of Research
5.5 Motor Neurone Disease

Ongoing – will continue to be monitored during next phase of implementation.

47

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

5.1 SHARE
5.2 Scottish Genomes Partnership
5.4 Co-funding of Research
5.5 Motor Neurone Disease

48

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

Ensuring that rare disease research is fully supported in the reorganised clinical research infrastructure for NHSScotlandand that Scotland is represented on any proposed rare disease strategic research initiative.

5.1 SHARE
5.4 Co-funding of Research

Complete.

49

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

Continuation of the SHARE Register, maintaining its important role in supporting participation in research of people from across the population.

5.1 SHARE
5.2 Scottish Genomes Partnership

Ongoing – will continue to be monitored during next phase of implementation.

50

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

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.

5.1 SHARE
5.2 Scottish Genomes Partnership

Ongoing – will continue to be monitored during next phase of implementation.

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).

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 development of actions and agreement of timescales to progress support and treatment for rare disease.

Ongoing – will be monitored during the next phase of implementation via the Communications plan.