NBSTRN Update

Amy Hoffman, MPHDecember 1, 2010

NBSTRN Update

Amy Hoffman, MPHDecember 1, 2010

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

Home page demo siteHome page demo site

12

TimelineTimeline

Newborn Screening Translational Research Network 13

R4S Database AdaptationR4S Database Adaptation

14

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

AcknowledgementsAcknowledgements

Newborn Screening Translational Research Network 17

NBSTRN is funded by contract HHSN27520080001C from the

Eunice Kennedy Shriver National Institute of Child Health and

Human Development, National Institutes of Health