1. The Implementation Plan for Rare Diseases in Scotland abcdefghijklmnopqrstuabcdefghijklmnopqrstu

2. EU Council recommendation of 2009 called on member states to take action to: “Establish and implement plans or strategies for rare diseases at the appropriate level or explore measures for rare diseases in other public health strategies, in order to aim to ensure that patients with rare diseases have access to high-quality care, including diagnostics, treatments, habilitation for those living with the disease and, if possible, effective orphan drugs...” abcdefghijklmnopqrstuabcdefghijklmnopqrstu BACKGROUND

3. abcdefghijklmnopqrstuabcdefghijklmnopqrstu UK Rare Diseases Stakeholder Forum established in 2012 to develop UK Strategy – working with 4 UK countries to oversee implementation and to promote collaborative responses to shared problems. UK Strategy for Rare Diseases published in November 2013 – provided a high-level framework with 51 commitments across 5 themes: 1)Empowering those affected by rare diseases; 2)Identifying and preventing rare diseases; 3)Diagnosis and early intervention; 4)Co-ordination of care; 5)The role of research. Strategy required the 4 UK countries to develop individual Implementation Plans to deliver the commitments. UK Forum to report on progress to Health Ministers of 4 UK countries every 2 years – first report in draft and due by March 2016. UK APPROACH

4. SCOTTISH APPROACH ‘It’s Not Rare to Have a Rare Disease.’ abcdefghijklmnopqrstuabcdefghijklmnopqrstu Some Rare Disease Facts:  Estimated that up to 300,000 people (or 1 in 17) in Scotland potentially effected by a rare disease.  Around 80% rare diseases are genetic in origin.  Around 250 new rare diseases discovered annually.  350 rare diseases affect 80% of cases.  NHS National Service Scotland manages specialised commissioning and service provision nationally. ‘SG Implementation Plan: It’s Not Rare to Have a Rare Disease’ was published in June 2014. Key aims include: improving diagnosis and coordinated patient-centred services; equity of access; developing education/training; and collaboration between NHS, research community, academia & industry.

5. SCOTTISH APPROACH ‘It’s Not Rare to Have a Rare Disease.’ abcdefghijklmnopqrstuabcdefghijklmnopqrstu Rare Diseases Implementation Oversight Group (RDIOG) is tasked with helping SG deliver actions based on a ‘Workplan’ containing three ‘bundles’ or themes: 1)Information and Training:  Rare disease information for staff and patients.  Training for staff groups. 2)Patient Involvement and Patient Pathways:  Involvement of patients in care and treatment decisions and service design.  Patient pathways. 3)Data, Patient Registers and Research:  Patient data and patient registers.  Research. RDIOG currently finalising an overarching ‘Workplan’ with short-term (2016) and longer-term (2020) outcomes.

6. EXAMPLES abcdefghijklmnopqrstuabcdefghijklmnopqrstu Empowering Patients: SG putting patient involvement at centre of new drug approval process. The Patient and Clinician Engagement (PACE) process grants patients & clinicians greater influence in the Scottish Medicines Consortium (SMC) process. 100,000 Genomes Project: To developing the world’s biggest genomics knowledge base – pooling knowledge from centres across the UK to further understanding of rare diseases and their treatment. Rare Disease Pathway Development Workplan: Individual disease care pathways for a range of rare diseases currently under development.

7. ON-GOING WORK IN SCOTLAND abcdefghijklmnopqrstuabcdefghijklmnopqrstu Genetics - Scottish Genomes Partnership (SGP): University of Edinburgh, the University of Glasgow and other partners. Major initiative to support research to link genetic data with clinical information. Aims: more personalised treatment; safer selection of drug therapies; providing new understanding of the causes of rare disease; and inform the development of new treatments. Scotland’s network of 4 Clinical Genetics centres in Aberdeen, Dundee, Edinburgh and Glasgow link with each other and centres elsewhere across the UK. New Medicines: Changes supported by a package of measures including a £90m New Medicines Fund for 2015 – 2016 (more than doubled from £40m) plus an additional £1m investment in SMC.

8. NEXT STEPS abcdefghijklmnopqrstuabcdefghijklmnopqrstu SG Implementation Oversight Group developing the overarching ‘Workplan’ with short-term (2016) and longer-term (2020) outcomes. SG Planning and Quality Division continuing to work with UK Rare Disease Forum and developing first progress report for Ministers in early 2016. Rare Disease UK reception in Scottish Parliament on 1 March 2016 (hosted by Rare Disease UK) to mark Rare Disease Day. European Organisation for Rare Diseases (EURORDIS) hosting a European Conference on Rare Diseases & Orphan Products from 26 to 29 May 2016 at Edinburgh International Conference Centre.

9. Health & Social Care Research Strategy 2015- 2020 Delivering Innovation through Research Scottish Government Health and Social Care Research Strategy http://www.gov.scot/Publications/2015/10/5164

10. The Strategy identifies four areas critical to our future success: Efficient Support for Research Partnership with Scottish Patients and the Public Targeted Deployment of Resources Investing in the Future

11. Why should Scotland do clinical research The ambition of this strategy is to increase the level of high- quality health research conducted in Scotland, for the health and financial benefits of our population, so that we are recognised globally as a leader in health science. Research central to ethos of evidence-based person-centred healthcare system Access to clinical trials for Scottish patients Inward investment

12. UK – wide comparison Office for National Statistics Scotland, 2013: – ~8.3% of UK – ~10% compared to England

13. Academic Strengths 11.8% of UK health research expenditure in Scotland (UKCRC, 2015) Scotland has 8.3% of UK population

15. CSO Annual Budget NHS Research Scotland Support Budget - £44 m meets the costs to the NHS of hosting and participating in clinical research Research Budget - £16.4 m Response mode grant schemes £300k limit Clinical Translational Studies Health Improvement, Protection and Services Collaborations with charities and other UK funders 6 research units as centres of excellence Research capacity building schemes (e.g. clinical fellowships) UK Research Contribution - £7.7 m

16. Translational Clinical Studies Research Committee The Committee considers applications for research aimed at improving treatments and / or diagnostic approaches for conditions of clinical importance to the population of Scotland. Applications must demonstrate the clinical relevance of the research and its potential for translation into clinical practice. Applications that seek to address questions of clinical importance in small patient groups (e.g. rare diseases) are welcomed.

17. Collaborative funding with medical research charities Alzheimer’s Research UK – research project Prostate Cancer UK – research project Action Duchenne / M.D.UK – clinical fellowship MND Assoc. / MND Scotland – clinical fellowship Scottish Huntington’s Assoc. (with RS Macdonald Trust) – academic fellowship Stroke Association – senior clinical Lectureship Stroke Association – research project Breast Cancer Now – research project Pancreatic Cancer UK – research project Marie-Curie – research project – up to £450K Action Medical Research – 2 x research projects – up to £200K each Wellbeing of Women – research project – up to £200K British Lung Foundation – research project – up to £300K t.b.a.– research project call t.b.a.– clinical fellowship call

19. What is SHARE? A register of people aged 16 or over and living in Scotland who have said they are interested in helping with medical research. They give permission to for the NHS to check their Datasets to see if they may be suitable for research projects. 90,000 signed up as of Wednesday

20. Going forward – a public dialogue SHARE requires potential participants to register general agreement for e-records to be checked Extend to NHS staff using NHS patient records solely to advise GP’s and hospital consultants of studies that may be of interest to their patients? CSO has discussed with our Public Engagement Group – positive response Proposed amendments to EU Data Protection Regulations? We will further consult and await EU consideration of these amendments