Crea%ng an XXXX model for rare disease drug discovery: pu7ng people in the driver s seat Sharon F. Terry President and CEO, Genetic Alliance Co-founder, PXE International Co-Principal Investigator, PCORnet Coordinating Center
Why Am I Here? Because this is personal.
Elizabeth and Ian diagnosed with pseudoxanthoma elasticum (PXE) 1994
Gene Discovery BioBank Tes%ng Clinical Diagnos%c Test Development via FDA & CLIA Regulatory Strategies Human Clinical Trials Paten%ng Licensing & Intellectual Property Management Drug Screening & Development Approaches Therapeu%cs - - Small Molecules - - Nonsense mutants
What can be done for one, can be done for all Network of 10,000 organizations Focused on people: individuals, families, communities People-centric, consumer-focused, transformation
What Does This Have to Do with People? The SECRET: We do not have answers to health issues that are possible to solve. We, the people, are the answer.
Communities Drive Research
Content Areas Preconcep)on Prenatal Neonatal Postpartum Early Childhood Partners Health Professional Socie)es MCH Consumer- Oriented Industry Public Health Communica)ons Programs Governmental Agencies
Baby s First Test: What We Do Baby s First Test houses the na)on s newborn screening clearinghouse. As the clearinghouse, Baby s First Test connects parents and healthcare providers with extensive informa)on and resources on newborn screening at the local, state, and na)onal levels. We Do This By: ü Training Videos/Webinars ü Continuing Education Opportunities ü Educational Resources ü Details on State Programs ü Information on 77 Conditions
The Advocacy ATLAS Accessible Tools for Leadership and Advocacy Success www.gene)calliance.org/advocacy- atlas 12
Dozens of Tools Wikiadvocacy.org 2000 pages of how to DoesItRunInTheFamily.org the simplest gene)c test TrustOrTrash.org who said it, when, why?
Mosaic: crowd- sourced research Bullet 18
Data Access: Data Seekers access health data and contact informa)on, as authorized Contact Informa%on? Data Seekers Allow Prohibit Ask Me Privacy Direc%ves? Allow Prohibit Ask Me Health Data Data Holder Set- up: Trusted organiza)on embeds a PEER entry point into its website, where par)cipants register Data Capture: Individual provides health data through survey ques)ons (or, in future, from their EHR)
Par)cipants choose privacy se^ngs If par)cipants choose to customize instead of keeping defaults, they can do so with the help of community guides, or on their own Each guide shares their take on privacy, together with informa)on about why they re par)cipa)ng 20
Take custom surveys Registry sponsors can add welcome messages, as well as other content, based on users progress Users take surveys for mul)ple family members, and on behalf of other individuals who have given their permission Add as many surveys (or as few) as you d like
Answer gamified ques)ons Ques)ons appear in a dynamic user interface, and provide immediate feedback on how others responded to the same ques)on Par)cipants can review their prior answers, make updates and/or remove the data at any )me
And soon Share medical records Share mobile health data Share genomic informa)on Connect to other par)cipants From computers and from mobile devices Available as socware as a service or as open source socware kit
Genetic Alliance, with Duke and Harvard, coordinating 20 Patient-Powered Research Networks (PPRNs) 13 + = Clinical Data Research Networks (CDRNs) PCORnet A national infrastructure for people-centered clinical research 24
Gene)c Alliance Projects hep://www.gene)calliance.org hep://www.babysfirseest.org hep://www.babysfirseest.org/spanish hep://www.genesinlife.org hep://www.diseaseinfosearch hep://www.ginahelp.org heps://www.peerplaform.org hep://www.biobank.org hep://www.gene)calliance.org/nets hep://free- the- data.org heps://www.trialsfinder.org heps://www.reg4all.org
Thank you! For more info: Sharon Terry sterry@geneticalliance.org Katherine Lambertson klambertson@geneticalliance.org