Secretary’s Advisory Committee on Heritable Disorders of Newborns and Children September 22, 2011 Newborn Screening Translational Research Network (NBSTRN)

NBSTRN Goals  Support research related to newborn screening  New Technology  New Conditions in NBS NBS pilot studies Clinical history development Outcome studies Clinical trials

NBSTRN Coordinating Center Michael Watson, PhD Project Director Amy Brower, PhD Project Manager Taylor Herrgott Administrative Assistant Bruce Bowdish, PhD IT & I Manager Louis Hoffman Senior Systems Analyst Irina Smotrich Project Coordinator Barry Thompson, MD Medical Director Amy Hoffman, MPH Project Manager Coordinates day-to-day activities Design, content, & management of website Oversight of subcontracts Plan and facilitate workgroup meetings Administrative support Reporting to NICHD Presentations and publicizing activities

Standing Committee & Workgroups Standing Committee Harvey Levy & Susan Berry Chairs Clinical Centers WG Susan Berry & Kathryn Hassell Chairs Disease Specific Workgroups Laboratories WG Stan Berberich & Steve Dobrowolski Chairs Bioethics & Legal Issues WG Ed Goldman & Jeff Brosco Chairs IT Workgroup Peter White Chair Voluntary National experts, clinicians, consumers, & partner agency representatives Meet twice a year and have regular conference calls Transportation, lodging, and honorarium for meeting attendees are reimbursed Metabolic Hearing Loss Hemoglobin Endocrine SCIDLSD

NBSTRN Work Groups Development Phase  Website  Public content  Investigator content  Research tools  Virtual repository of dried blood spots Conditions in NBS; research cohorts; population  Adaptation of R4S to use in pilots  Tools to diagnosis and follow-up data at point of care Lab Quality Assurance Committee6

NBSTRN Work Groups Implementation Phase  Work groups providing consultation to investigators  NBSTRN providing support to investigators  15 investigators with grants in development  Grantee specific adaptation of tools  Clinical history of metabolic conditions in NBS  SMA clinical history development  NBSTRN pilot tests of infrastructure  SCID  LSDs Lab Quality Assurance Committee7

Website –  Major sections for researchers, workgroups, parents, and public  Easy access to VRDBS, R4S, Wiki  Links to NICHD and NBS resources and partner agencies  State profiles to be updated via DBS survey through APHL  New website launched 6/11 Newborn Screening Translational Research Network8

Newborn Screening Translational Research Network9

Virtual Biospecimen Repository  Allows centralized view of dried blood spot repositories of participating states  HIPAA complaint  Secure data exchange  Adding disease specific repositories maintained by NBSTRN investigators (e.g., LSDs, SCID, SMA) to system over time Lab Quality Assurance Committee10

Demonstration Newborn Screening Translational Research Network11

How to Use This Site Newborn Screening Translational Research Network12

Request Process Status Bar Newborn Screening Translational Research Network13

Research Support - Resources Newborn Screening Translational Research Network14

Research Support – Submit a Question Newborn Screening Translational Research Network15

R4S  Web-based database for the collection and display of data from true positive patients found in newborn screening  Allows:  Quality improvement of NBS  Discovery of new markers for screened conditions  Prospective collection of data in pilot tests for: New conditions New technologies (e.g., comparative research) Lab Quality Assurance Committee16

Participation Case Count by Participant

Newborn Screening Translational Research Network 21

State-wide Screening Pilots – Cumulative Classic SCID Cases

Long-term Follow-up Lab Quality Assurance Committee23

Common Information Data Set  Four domains of interest  Surveillance  Public health  Patient care  Knowledge generation  88 data elements in twenty-four data categories, including demographics, SES, family history, prenatal history, newborn screening, and emergency management.  88 data elements in twenty-four data categories, including demographics, SES, family history, prenatal history, newborn screening, and emergency management.  Survey results show broad interest in each data element by all four of the domains of interest. Handout shows the results for each data element.  Standardization through NLM Newborn Screening Translational Research Network

NBSTRN Key Resources Newborn Screening Translational Research Network25 Region 4 Stork Database (R4S) Access to own patients’ data Access to de- identified data

NBSTRN and the SACHDNC  Facilitate evidence development to support nominations  Pilots of new conditions  Clinical history development  Clinical trials of new interventions  Provide means of capturing post-market surveillance data to monitor program  Addressing evolving bioethics and legal issues Lab Quality Assurance Committee26

Thank you Newborn Screening Translational Research Network27