An Introduction to Genetic Alliance UK’s Work in Scotland Natalie Frankish – Development Officer for Scotland Event:Action Duchenne Scottish Conference Date:4 TH December noon - 5pm

Genetic Alliance UK is the national charity working to improve the lives of patients and families affected by all types of genetic conditions. We are an alliance of over 180 patient organisations. Our aim is to ensure that high quality services, information and support are provided to all. We actively support research and innovation across the field of genetic medicine. Genetic Alliance UK

Our Mission three main elements: Supporting: We seek to raise awareness of genetic conditions and improve the quality of services and information available to patients and families. Campaigning: We actively campaign on behalf of those with genetic conditions on issues of policy and practice to influence governments, policy makers, industry and care providers such as the National Health Service. Uniting: We provide a united voice for all those affected by genetic conditions, enabling us to work together towards a common goal of making life better for patients and families at risk. Genetic Alliance UK

Since 2005 Devolution of Health – Scottish Political landscape Development Officer for Scotland Funded through Scottish Government (Calman Review, Strategic Funding Partnership) Varied role – policy, public affairs, development, patient engagement, member relations Genetic Alliance UK – Scotland

Development Officer for Scotland In post since 2010 Policy and engagement background Responsible for our work in Scotland Key areas of work Policy Virtual Patient Panel Genetic Alliance UK & Rare Disease UK

Rare Diseases defined by the European Union as one that affects less than 5 in 10,000 of the general population. 6,000 – 8,000 known rare diseases. 1 in 17 people will be affected. 300,000 people affected in Scotland – 3.5m in UK Collectively, rare diseases are not rare at all. In the UK, a single rare disease may affect up to about 30,000 people. Duchenne Muscular Dystrophy is a rare disease. Rare Disease

An initiative of Genetic Alliance UK. Formed in Nov following the publication of the European Commission’s Communication on Rare Diseases. Since then, RDUK has been the National Alliance for people with rare diseases and all who support them. Rare Disease UK is open to anyone with an interest in rare diseases and includes patients, family members, patient organisations, clinicians, researchers, academics and industry. Overlap between the work of Genetic Alliance UK and Rare Disease UK – with approximately 80% of rare diseases having a genetic component. Rare Disease UK

Key Campaigns: Strategy for Rare Diseases  Improving Lives, Optimising Resources: A vision for the UK Strategy for Rare Diseases  Involved in developing UK Strategy  Consultation on Scottish Implementation Plan  Scottish Government Oversight Implementation Group Access to Medicines for Rare Diseases  Public Petition campaign to improve access to medicines for rare disease patients in Scotland Rare Diseases in Scotland

UK Strategy for Rare Diseases – Nov 2013 Home Nations to launch Implementation Plans Scotland first to develop – consulted with RDUK Launched Plan in July 2014 Recognises that the delivery of the commitments of the UK Strategy in Scotland needs collaborative working between the NHS, public and third sector, partners, researchers, academic institutions and industry. Plan outlines the key objectives, in relation to the 51 commitments of the UK Strategy. Scottish Plan for Rare Diseases

Patient Empowerment  Opportunities for patients to be involved in decision making on all levels  Access to registries and patient information Identifying and Preventing  Registries  Screening Diagnosis and Early Intervention  Patient Pathways  Databases  Training Co-ordination of Care  Patient Pathways Research  Support research through role of CSO  UK Rare Genetic Disease Research Consortium Agreement. Scottish Plan for Rare Diseases

Access to medicines for rare diseases can be very difficult Scottish campaign – Scottish Parliament Public Petition Health and Social Committee Inquiry & Scottish Government Review Recommendations  SMC Greater transparency and patient engagement Processes for orphan and ultra-orphan medicines  IPTRs No more exceptionality To be replaced by Peer Approved Clinical System  New Medicines Fund £90 million ring-fenced for rare and end of life medicines Access to Medicines

Recent success with Translarna – IPTR process SMC Appraisal – PACE SMC Review Genetic Alliance UK continues role with SMC Patient Charter on Access to Medicines for Rare Diseases (Scotland)  Recommendations for further improvement  Patient engagement throughout process key  Input from Action Duchenne Access to Medicines

Transitions Difficulties reported by members. Survey of patients Key findings: Good communication & coordination essential Patients and families feel disconnected Age appropriate services not always available Transition can be a shock and stressful Patients feel unsupported throughout Transition is better for more common conditions Research not compatible with research Need for dedicated transition services Scottish Muscle Network

Virtual Patient Panel  Online network for patients – anyone can join  Find out news, give feedback, share experiences  Can be involved as little or as much as you like  Sign up with me Rare Disease Day 2016  Join us in the Scottish Parliament – 1 st March 2016  Attend our National Conversation events in March  Tell me about your activities Cross Party Group on Rare Diseases  Raising awareness of Rare Diseases in Parliament Get involved in our work

Natalie Frankish Development Officer for Scotland