1. Patients’ expectations from genomic applications Nick Meade Director of Policy Genetic Alliance UK Local Networks, Workshop One, 7 th October 2014

2. 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 who need them. We actively support research and innovation across the field of genetic medicine. Genetic Alliance UK Who are we?

3. Wide variety of patient organisations supporting families affected by genetic conditions. Large to small – British Heart Foundation to Costello Kids. Research funders, support groups, and those that do both. Conditions on which research occurs, and “neglected” conditions. Not just single gene disorders. Genetic Alliance UK We are our members… more than 180 of them

5. Genetic conditions Genetic Alliance UK How many genetic conditions are there? Number of Entries in OMIM www.omim.org Year20122014 * Gene description14,03114,745 # Phenotype description, molecular basis known 3,5834,278 % Phenotype description or locus, molecular basis unknown 1,7671,681 Other, mainly phenotypes with suspected mendelian basis 1,9011,847 Total phenotypes7,2517,806

6. Cures and treatments for genetic conditions Bone marrow transplant Clotting factors Enzyme replacement therapies Further handful of innovative therapies  Ivacaftor, alipogene tiparvovec Implantable cardioverter defibrillators? Genetic Alliance UK …and how many treatments are available?

7. Genetic conditions comprise an enormous burden of unmet need Therefore: A need for research and innovation A need for this to happen in the UK and Europe A need for all promising avenues of research to be fully investigated Genetic Alliance UK Shared perspective of our members

8. Experience of patients is highly variable Patients’ expectations from genomic applications The spectrum of patient views Patient with hypertension Patient with long QT syndrome Parent of child born with Duchenne muscular dystrophy CONSUMER PATIENT

9. Significant unmet need informs patients’ attitudes: Patients’ expectations from genomic applications The spectrum of patient views Risk threshold in medicines and interventions Attitude to risk in research Risks to privacy Approach to new technologies

10. Supporting families of children with undiagnosed genetic conditions

11. “I need an answer (if at all possible) and I also want to be able to tell other people the cause and stop the ‘he’s just slow’ / ‘he’s a boy’/ ‘he’ll catch up’/ ‘he’ll grow out of it’/ comments.” Why is a diagnosis important? Sense of what the future holds Will they walk? Talk? What will their life expectancy be? Being taken seriously “I want an answer to stop the ‘maybe he will grow out of it’ comments. Will future children be affected? “I want another child but without any answers it seems like such a gamble.” Access to services “I had to almost beg for hospice place - no diagnosis so no prognosis, and this is despite the amount of times he's been resuscitated”

12. Diagnosis of conditions that we cannot currently diagnose (RESEARCH) Faster diagnosis: shorten the diagnostic odyssey More detailed diagnoses (RESEARCH) Patients’ expectations from genomic applications Improved diagnosis

13. Patients and families instinctively want as much information as they can get Our community recognises the value of genetic counselling to understand more about genomic information Call for “new” conditions to be studied following identification Patients’ expectations from genomic applications Improved diagnosis – at our end of the spectrum

14. Pharmacogenomics  Potentially important for all  Particularly important in rare disease medicine Stratified medicines  Most developed in oncology  Developing in some cystic fibrosis Patients’ expectations from genomic applications Improved treatments

15. Care.data Big data Direct to consumer testing Patients’ expectations from genomic applications Attitudes of other communities

16. Patients’ expectations from genomic applications Conclusion

17. Genetic Alliance UK Insert Charity Commission slide

18. Patients’ expectations from genomic applications Conclusion

20. Views vary according to health needs Utility varies according to health needs Our community will embrace this technology, and is likely to put the NHS under strong pressure to keep up. Patients’ expectations from genomic applications Conclusion

21. Thank you! Nick Meade Director of Policy 020 7704 3141 nick@geneticalliance.org.uk Registered charity numbers: 1114195 and SC039299 Registered company number: 05772999

22. Genetic Alliance UK Why do our members join us? Members, Patients and family Prevention Diagnosis Research and innovation Cures and treatments Day-to-day Care Living with a genetic condition Basic Research Translational Research Clinical Research Legal Approval Health Technology Appraisal Commissioning

23. Policy interactions Policy work MARKET AUTHORISATION PRICINGHTA BASIC RESEARCH CLINICAL RESEARCH TRANSLATIONAL RESEARCH COMMISSIONING

24. Policy interactions Controversial issues Animal research Embryo research Cytoplasmic hybrid embryos Preimplantation genetic diagnosis Mitochondrial replacement therapy Gene therapy Stem cell therapy Termination of pregnancy Large scale use and sharing of genomic data?

26. Genetic Alliance UK Policy Work

27. Coordination of research Prevention and diagnosis Commissioning and planning Patient Care, Information and Support Delivering Coordinated Care February 2011 Rare Disease UK Vision for the UK Rare Disease Strategy

28. The role of research Identifying and preventing rare diseases Diagnosis and early intervention Empowering those affected by rare diseases Coordination of care November 2013 Rare Disease UK Actual UK Strategy for Rare Diseases

29. Rare Disease UK UK Rare Disease Strategy Implementation phase. All four Governments will soon publish their commitments to the strategy. UK Stakeholder Forum reconstituted, Alastair Kent is chair. Will hold UK Governments to account. We need to plan a way for patients to feed into this arena.