Sharon F. Terry, MA President & CEO, Genetic Alliance

1. Not Just a Seat at the Table: Participants Building the Research Agenda New Patient-Centric Perspectives in Medical Research: Ethical and Governance Challenges Rome, Italy 28 October 2011 Sharon F. Terry, MA President & CEO, Genetic Alliance Founding Executive Director, PXE International

2. It is already terrifying – our loved ones are dying before we have any solutions “You never change things by fighting existing reality.  To change something, build a new model that makes the existing model obsolete.” Buckminster Fuller

3. Risk? Harms? Benefits? Risk? Harms? Benefits? Diagnosed Risk? Harms? Benefits? Not Yet Diagnosed

4. Elizabeth and Ian diagnosed with a genetic condition 1994 2011

5. Network of more than 10,000 organizations, 1200 advocacy organizations (Founded 1986) Connected Consumers using Smart Services

6. Maturing Participation • 1950s-1960s – Medical Models • Voluntary Health Organizations • 1970s – Nascent Patient Movement – Missing Services • Self-organized Disease Specific Organizations • 1980s – Maturing Patient Movement – IS & IT Technology • New Alliances and New Strategies Emerge • 1990s – Powerful Momentum “Patient Power” – Websites &Email • Institutionalized Advocacy Coalitions • Patient Organized Networked Research Organizations • Effecting Broad Change of Public Policy • 2000s – Successful Models “Research Advocacy” – BioBanks • Active Engagement in the Research Enterprise • Breaking Conventional Boundaries of the Medical Model • Demand for Quality, Services, Choice, & Personalized Delivery • Patient Rights Public Policy – Changing the Status-Quo • 2010s–Smart Networks in the Commons – Translation & Delivery • Participatory, dynamic, long tail, precise

7. iPhone App • FitBit ® • iPhone • iPhone App • Wireless Scale 23andWe

8. DNA Warehousing – Newborn Screening It is the moral imperative of every person on the planet to freely share their health information. Paraphrase of Jamie Heywood, Co-founder, Patients Like Me "We were appalled when we found out. Why do they need to store my baby's DNA indefinitely? Something on there could affect her ability to get a job later on, or get health insurance.” Karen Brown, Nurse, new mother, Florida February 4, 2010

9. Culture Shift in Information Age Industrial Age (old) Information Age (new) Control means of production Open means of production Based on scarcity Based on abundance Hierarchical / Command & Control Network / Collaboration Linear / Sequential Organic Win / Lose Win / Win MaterialsInformation

10. Questions the Old (Current) Paradigm Answers

11. Questions the New Paradigm Must Answer

12. People are better knockouts, we hold the keys, how about we also participate in solving the puzzles? Visionary leadership Shared infrastructure Higher power Lower costs Dirty data gets cleaner Current fragmentation Redundant infrastructure Low power High costs

13. Navigating the Ecosystem of Translational Science(NETS)Designed by and for participants Baxter KK, Gal-Edd N, Horn EJ, O’Leary J, Terry PF, and Terry SF. Manuscript in preparation.

14. Terry SF, Terry PF, Rauen K, Uitto J, Bercovitch L. Advocacy Organizations as Research Organizations: the PXE International example. Nature Reviews Genetics. 2007 Feb; Vol. 8, No. 2

15. Gene Discovery BioBank Testing Clinical Diagnostic Test Development via FDA & CLIA Regulatory Strategies Human Clinical Trials Drug Screening & Development Approaches Patenting Licensing & Intellectual Property Management Therapeutics --Small Molecules --Nonsense mutants

16. Standard View: from Most Stakeholders Science Academic Research Barrier 1: Assay Barrier 2: Chemistry HTS and chemical probe Discover target Develop assay Develop animal effective compounds IND Clinical Trials Regulatory II III Phases: I Barrier 3: Clinical Patients Develop patient cohorts/endpoints

17. Our Vision: We revolutionize access to information and resources to enable translation of research into services and individualized decision making. Our Product: We provide biorepository and registry solutions for advocacy organizations to stimulate research for a cure. Our Process: Coop model allowing a participant managed extensible, interoperative, cost sharing registry and biobank.

18. GARB Toolbox for Advocates www.biobank.org

19. Contribution of Individual Data Contribution of Trial Data That’sMyData! Returning trial data to participants (S. Terry) Public-initiated Data-sharing for Collaborative Research Academic Trial Data Release (A. Margolin) ActivatingAccess Direct-from-public data contribution (L. Avey) Pharma Trial Data Release (S. Sacane) Public Enablement Activating Citizen Scientists (G. Biggers) The Link Project (D. Duncan) Collaboration between Sage Bionetworks and Genetic Alliance

20. Change the Culture and Change the Paradigm • Citizen’s have changed: • Egypt, Syria, AIDs, breast cancer, injustice (Amnesty International) • The computer, music, publishing, film industry • Translational research: THAT’S MY DATA!and more

21. Nothing about us without us. US Native American Activist This US is all of US.