1. NBSTRN Update Amy Hoffman, MPH December 1, 2010

2. NBSTRN Structure Newborn Screening Translational Research Network2 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 Laboratories Workgroup Stan Berberich, Chair Information Technology Workgroup Peter White, Chair Bioethics Workgroup Ed Goldman, Co-chair Jeff Brosco, Co-chair NICHD Project Officer: Tiina Urv

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 Network3

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 Network4

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 Network5

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 Network6

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 Network7

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 Network8

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

10. Virtual Repository Workflow Investigator Register for an Account Investigator Search for DBS Investigator Request DBS or Create General Population Request State Review and Approve DBS Request State Ship approved Requests Investigator Receive DBS and return remaining DBS as required 123 46 5 Newborn Screening Translational Research Network 10

11. DBS Sample/Patient Data Elements 11 Patient Demographics EthnicityThe ethnicity of the newborn (Hispanic or Latino, Not Hispanic or Latino, Not Reported, Unknown) RaceThe race of the newborn (American Indian or Alaska Native, Asian, Black or African American, Native Hawaiian or other Pacific Islander, Not Reported, Unknown, White) GenderThe gender of the newborn (Male, Female, Unknown, Unspecified) Age & Feeding Status at Collection Time since birth; Breast, Formula, Both, TPN - To be added soon. Dried Blood Spot Sample Birth YearThe year of birth of the newborn Birth WeightThe birth weight of the newborn in grams StateThe State in which the DBS Sample was collected Storage ConditionThe storage condition (i.e., temperature) for the DBS Sample External IDThe State’s unique identifier of the DBS spot (not displayed to investigators) Test ResultsWhether the DBS Sample test results is a Screen Negative or Diagnosed Positive Cost Recovery FeeThe fee range for recovery of costs for coordinating DBS Sample request and shipping Newborn Screening Translational Research Network

12. Home page demo site 12

13. Timeline Newborn Screening Translational Research Network13

14. R4S Database Adaptation 14

15. Future Activities Newborn Screening Translational Research Network15  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)

16. Future Activities (2) Newborn Screening Translational Research Network16  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

17. Acknowledgements Newborn Screening Translational Research Network17 NBSTRN is funded by contract HHSN27520080001C from the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health