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NBSTRN StructureNBSTRN Structure
Newborn Screening Translational Research Network 2
NBSTRN CCMichael Watson, PI
Barry Thompson, Medical DirectorAmy Hoffman, Project ManagerAmy Brower, Project ManagerBruce Bowdish, IT Manager
Irina Smotrich, Administrative Assistant
Standing CommitteeHarvey Levy, Chair
Clinical CentersWorkgroup
Sue Berry, Chair
LaboratoriesWorkgroup
Stan Berberich, Chair
Information TechnologyWorkgroup
Peter White, Chair
BioethicsWorkgroup
Ed Goldman, Co-chairJeff Brosco, Co-chair
NICHD Project Officer: Tiina Urv
NBSTRN Target AudienceNBSTRN 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
NBSTRN Resources & ServicesNBSTRN 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
Current ProjectsCurrent 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
Virtual Repository OverviewVirtual Repository Overview
CentralizedCentralized Web-basedWeb-based Inventory of available DBS samplesInventory of available DBS samples Allows Investigators to browse and queryAllows Investigators to browse and query Tools to review and manage requestsTools to review and manage requests Approve requestsApprove requests Track shipmentsTrack shipments Provide feedbackProvide feedback
Newborn Screening Translational Research Network 6
Value of the VRDBSValue of the VRDBS
For Investigators:For Investigators: Simultaneous cross-state view of available DBSSimultaneous cross-state view of available DBS Automate the DBS request process - expediting the Automate the DBS request process - expediting the
search and request processsearch and request process Provide insight into the data elements a state collects Provide insight into the data elements a state collects
(early stage investigators)(early stage investigators) Provide a single-point to browse the rules and Provide a single-point to browse the rules and
regulations of each state (The ‘State Profile’ page is a regulations of each state (The ‘State Profile’ page is a New Feature - to be developed)New Feature - to be developed)
Newborn Screening Translational Research Network 7
Value of the VRDBSValue of the VRDBS
For State Programs:For State Programs: Automate the workflow and provide a single point for request Automate the workflow and provide a single point for request
managementmanagement Central location to run reports on requests submitted to their Central location to run reports on requests submitted to their
statestate Access to see which investigators meet the necessary criteria for Access to see which investigators meet the necessary criteria for
research in their stateresearch in their state Provide a secure-web-based tool for State NBS Laboratories to Provide a secure-web-based tool for State NBS Laboratories to
share their data more easily to the research communityshare their data more easily to the research community
For the NSBTRN (network membership)For the NSBTRN (network membership) Central location of participating states and the data each state is Central location of participating states and the data each state is
willing to sharewilling to share Quality monitoring of registered investigators and state-supplied Quality monitoring of registered investigators and state-supplied
datadata Encourage collaboration among investigatorsEncourage collaboration among investigators
Newborn Screening Translational Research Network 8
NBSTRN Virtual RepositoryNBSTRN 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 ProgramsVirtual Repository
shipping
browserequest
de-identified data
6. Investigator returns remaining sample as required
feedback
dissemination of findings
Virtual Repository WorkflowVirtual Repository Workflow
InvestigatorInvestigator
Register for an Account
InvestigatorInvestigator
Search for DBS
InvestigatorInvestigator
Request DBS orCreate General Population Request
StateState
Review and Approve DBS Request
StateState
Ship approved Requests
InvestigatorInvestigator
Receive DBS and return remaining DBS as required
1 2 3
4 65
Newborn Screening Translational Research Network 10
DBS Sample/Patient Data ElementsDBS Sample/Patient Data Elements
11
Patient Demographics
Ethnicity The ethnicity of the newborn (Hispanic or Latino, Not Hispanic or Latino, Not Reported, Unknown)
Race The race of the newborn (American Indian or Alaska Native, Asian, Black or African American, Native Hawaiian or other Pacific Islander, Not Reported, Unknown, White)
Gender The 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 Year The year of birth of the newborn
Birth Weight The birth weight of the newborn in grams
State The State in which the DBS Sample was collected
Storage Condition The storage condition (i.e., temperature) for the DBS Sample
External ID The State’s unique identifier of the DBS spot (not displayed to investigators)
Test Results Whether the DBS Sample test results is a Screen Negative or Diagnosed Positive
Cost Recovery Fee The fee range for recovery of costs for coordinating DBS Sample request and shipping
Newborn Screening Translational Research Network
Future ActivitiesFuture Activities
Newborn Screening Translational Research Network 15
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)
Future Activities (2)Future Activities (2)
Newborn Screening Translational Research Network 16
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