NBSTRN Update Amy Hoffman, MPH December 1, 2010

1. NBSTRN UpdateAmy Hoffman, MPHDecember 1, 2010

2. NBSTRN Structure NICHD Project Officer: Tiina Urv NBSTRN CC Michael Watson, PI Barry Thompson, Medical Director Amy Hoffman, Project Manager Amy Brower, Project Manager Bruce Bowdish, IT Manager Irina Smotrich, Administrative Assistant Standing Committee Harvey Levy, Chair Clinical Centers Workgroup Sue Berry, Chair Bioethics Workgroup Ed Goldman, Co-chair Jeff Brosco, Co-chair Information Technology Workgroup Peter White, Chair Laboratories Workgroup Stan Berberich, Chair Newborn Screening Translational Research Network

3. NBSTRN Target Audience Newborn Screening Researchers HRSA Genetics Collaboratives State Laboratories Clinicians Families/Consumers/Patients Rare Disease Consortia Advocacy Groups Policy Makers Industry Newborn Screening Translational Research Network 3

4. NBSTRN Resources & Services Residual Dried Blood Spots LTFU Data IRB Assistance Contacts/Networking Navigation IT Infrastructure Statistical Consulting Study Design Regulatory Guidance State/Federal Information Practice Guidelines Procedure Development Clinical/Natural History Money – not direct funding for research Newborn Screening Translational Research Network 4

5. Current Projects During Year 1-2: Established Standing Committee & Workgroups Defining minimum data set for LTFU Collected NBS laboratory information Website development and launch Considered IT Infrastructure options and designs Develop collaboration with APHL & Genetic Alliance SCID and LSD Pilot Projects Subcontract with 5AM Solutions, Inc. for Virtual Repository of DBS Subcontract with Mayo to adapt R4S database Newborn Screening Translational Research Network 5

6. Virtual Repository Overview • Centralized • Web-based • Inventory of available DBS samples • Allows Investigators to browse and query • Tools to review and manage requests • Approve requests • Track shipments • Provide feedback Newborn Screening Translational Research Network

7. Value of the VRDBS For Investigators: • Simultaneous cross-state view of available DBS • Automate the DBS request process - expediting the search and request process • Provide insight into the data elements a state collects (early stage investigators) • Provide a single-point to browse the rules and regulations of each state (The ‘State Profile’ page is a New Feature - to be developed) Newborn Screening Translational Research Network

8. Value of the VRDBS For State Programs: • Automate the workflow and provide a single point for request management • Central location to run reports on requests submitted to their state • Access to see which investigators meet the necessary criteria for research in their state • Provide a secure-web-based tool for State NBS Laboratories to share their data more easily to the research community For the NSBTRN (network membership) • Central location of participating states and the data each state is willing to share • Quality monitoring of registered investigators and state-supplied data • Encourage collaboration among investigators Newborn Screening Translational Research Network

9. NBSTRN Virtual Repository State NBS Programs Investigators Virtual Repository 1. Investigator searches DBS inventory 2. Investigator makes request 3. State reviews and approves request browse request de-identified data 4. State ships samples to investigator 5. Investigator receives samples 6. Investigator returns remaining sample as required dissemination of findings shipping feedback Newborn Screening Translational Research Network

10. Virtual Repository Workflow 1 2 3 Investigator Investigator Investigator Search for DBS Request DBS or Create General Population Request Register for an Account 5 4 6 State Investigator State Ship approved Requests Receive DBS and return remaining DBS as required Review and Approve DBS Request Newborn Screening Translational Research Network

11. DBS Sample/Patient Data Elements Newborn Screening Translational Research Network

12. Home page demo site

13. Timeline Newborn Screening Translational Research Network

14. R4S Database Adaptation

15. Future Activities • Residual DBS Storage & Use survey (APHL) • IRB Survey (Bioethics WG) • With 5AM Solutions – refine Virtual Repository • Identify Virtual Repository participants and needs • Refine R4S Database for LSD & SCID • Develop LTFU data dictionaries • Standardize LTFU language • Develop bedside data capture tool and centralized database for LTFU data (CHOP) Newborn Screening Translational Research Network 15

16. Future Activities (2) • Model consent modules (Bioethics WG) • Clinical groups for pilot studies • Patient specimen and re-contact repositories • Refine website (5AM Solutions) • Secure portal • FISMA compliant • Define bioethical issues and develop policies and procedures • Identify funding opportunities • Determine sustainability Newborn Screening Translational Research Network 16

17. Acknowledgements NBSTRN is funded by contract HHSN27520080001C from the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health Newborn Screening Translational Research Network