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Newborn Screening Translational Research Network (NBSTRN)

Newborn Screening Translational Research Network (NBSTRN) . Secretary’s Advisory Committee on Heritable Disorders of Newborns and Children September 22, 2011. NBSTRN Goals. Support research related to newborn screening New Technology New Conditions in NBS NBS pilot studies

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Newborn Screening Translational Research Network (NBSTRN)

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

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

  3. NBSTRN Coordinating Center Who We Are • 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

  4. Work Groups and Committees Standing Committee & Workgroups • 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 LSD SCID HearingLoss Hemoglobin Metabolic Endocrine

  5. NBSTRN Work GroupsDevelopment 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 Committee

  6. NBSTRN Work GroupsImplementation 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 Committee

  7. Website – www.NBSTRN.org • 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 Network

  8. www.nbstrn.org Newborn Screening Translational Research Network

  9. 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 Committee

  10. Demonstration Newborn Screening Translational Research Network

  11. How to Use This Site Newborn Screening Translational Research Network

  12. Request Process Status Bar Newborn Screening Translational Research Network

  13. Research Support - Resources Newborn Screening Translational Research Network

  14. Research Support – Submit a Question Newborn Screening Translational Research Network

  15. 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 Committee

  16. Participation Case Count by Participant

  17. Newborn Screening Translational Research Network

  18. State-wide Screening Pilots – Cumulative Classic SCID Cases

  19. Long-term Follow-up Lab Quality Assurance Committee

  20. 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.   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

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

  22. 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 Committee

  23. Thank you Newborn Screening Translational Research Network

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