Newborn Screening Translational Research Network Virtual Repository of Dried Blood Spots Investigator Demonstration March 15, 2012 Call in Number: (415) Access Code:

Agenda  Presenter and Speaker Introductions  About the Newborn Screening Translational Research Network  Training Webinar Topics  About the Virtual Repository  Search for Dried Blood Spots  Request Dried Blood Spots  Provide Feedback on Dried Blood Spots  Question and Answer Newborn Screening Translational Research Network2

Introductions Amy Hoffman, MPH Project Manager Newborn Screening Translational Research Network (NBSTRN) American College of Medical Genetics (ACMG) Erica Marrari, PMP Project Manager 5AM Solutions, Inc. Newborn Screening Translational Research Network3

Goals of the Hunter Kelly Newborn Screening Program Identify, develop and test the most promising technologies Increase the specificity of newborn screening and expand the number of conditions for which screening tests are available Develop experimental treatments and disease management strategies for additional newborn screening conditions, and other genetic, metabolic, hormonal and or functional conditions that can be detected through newborn screening for which treatment is not yet available Newborn Screening Translational Research Network4

NBSTRN Mission The mission of the Newborn Screening Translational Research Network (NBSTRN) is to improve the health outcomes of newborns with genetic or congenital disorders by means of an infrastructure that allows investigators access to robust resources for newborn screening research. Newborn Screening Translational Research Network5

Scope of Work 1.Network of State NBS Programs and Clinical Centers 2.National Research informatics system 3.Repository of dried blood spots (virtual) 4.IRB, consent, policy expertise and support 5.Facilitate research on new technologies 6.Facilitate research on effectiveness of treatments and long-term outcomes 7.Statistical leadership and clinical trial design expertise 8.Facilitate timely dissemination of research findings 9.Recruit steering committee to make recommendations Newborn Screening Translational Research Network6

NBSTRN Organization Newborn Screening Translational Research Network7 Coordinating Center Mike Watson, Project Director Barry Thompson, Medical Director Amy Hoffman, Project Manager Amy Brower, Genomic Scientist Bruce Bowdish, IT Manager Irina Smotrich, Project Coordinator Standing Committee Harvey Levy Susan Berry Clinical Centers Susan Berry Kathy Hassell Laboratories Stan Berberich Steve Dobrowolski Bioethics & Legal Issues Ed Goldman Jeff Brosco IT and Informatics TBD Key Partners: APHL, Genetic Alliance, Regional Collaboratives, NNSGRC, Federal Agencies (Centers for Disease Control (CDC), Health Resources and Services Administration (HRSA), National Institutes of Health (NIH)) Network of Experts NICHD Staff: Tiina Urv, Project Officer Katharine Minker, Contract Officer

Project Time Framework  Years 1-2 were mainly developmental  IT and informatics  Website and content  Tools and resources  Bioethical and legal issues  Years 3-5 are implementation  Pilots to test NBSTRN infrastructure  Ongoing development and refinement  Grantee and contractor collaborations developing Newborn Screening Translational Research Network8

VRDBS Overview  A Centralized, web-based inventory of available DBS specimens  Allow Investigators to search and request DBS specimens  Provide Administrators with tools to review, approve/deny, and manage requests  Provide State Lab Technicians with ability to track shipments  Provide Investigator feedback  Load DBS data from participating States into the central Repository Newborn Screening Translational Research Network9

Value of the VRDBS  Provide simultaneous cross-state view of available DBS for participating states  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  Automate the workflow and provide a single point for request management  Provide a secure-web-based tool for State NBS Laboratories to share their data more easily to the research community Newborn Screening Translational Research Network10

VRDBS Onboarding Process Newborn Screening Translational Research Network11

VRDBS System Roles Newborn Screening Translational Research Network12 RoleFunction Investigator Search, Request Letters of Support, Submit Questions to NBS Programs, Submit DBS Request Access to their own data only NBSTRN Administrator Manage Registrants, Manage States Access to all State’s functions/data State Administrator (Participating States) Respond to Questions, Review and Comment on DBS Requests, Approve/Deny DBS Requests, Manage Inventory Access to own State’s functions/data only State Lab Technician (Participating States) Manage Inventory, Distribute DBS Access to own State’s data only

VRDBS Workflow Overview Newborn Screening Translational Research Network 13 NBSTRN Reviews Register for an Account 1 VRDBS shows information about stored DBS input by participating states Search for Dried Blood Spots (DBS) 2 VRDBS automatically notifies state(s) that a request has been made Make a Request for DBS 3 Receive Notification of State Approval or Denial of Request(s) 4 Receive DBS and Conduct Research 5 Return Remaining DBS to State(s) if Required 6 State Reviews and Approves or Denies DBS State Ships Approved DBS State Determines if DBS must be Returned

Newborn Screening Translational Research Network14 Virtual Repository Demonstration

QuestionandAnswer Please use the dialogue box on the webinar to submit questions. Newborn Screening Translational Research Network15

Monthly VRDBS Training Dates Newborn Screening Translational Research Network16 Intended Audience DateWebinar Topics State Administrator and State Lab Technician April 19, 2012, 2:00 PM ET Registration link:  Shipping and Order Administration  Dried Blood Spot Administration  Participant Administration  Review Dried Blood Spot Feedback Investigator May 17, 2012, 2:00 PM ET Registration link:  About the Virtual Repository  How to Use This Site  Research Support State Administrator and State Lab Technician June 21, 2012, 2:00 PM ET Registration link:  About the Virtual Repository  Responding to Questions  Institution Administration  Request Administration Investigator July 19, 2012, 2:00 PM ET Registration link:  Search for Dried Blood Spots  Request Dried Blood Spots  Provide feedback on Dried Blood Spots

Thank You Thank you for attending today’s Newborn Screening Translational Research Network’s Virtual Repository of Dried Blood Spots webinar For more information, please visit nsbtrn.org or NBSTRN is funded by contract HHSN C from the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health Newborn Screening Translational Research Network17