secretary’s advisory committee on heritable disorders of newborns and children september 22, 2011...
TRANSCRIPT
Secretary’s Advisory Committee on Heritable Disorders of Newborns and Children
September 22, 2011
Newborn Screening Translational Research Network(NBSTRN)
Newborn Screening Translational Research Network(NBSTRN)
NBSTRN GoalsNBSTRN 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
Who We Are
Standing Committee
& Workgroups
Sta
nd
ing
Co
mm
itte
eH
arve
y Le
vy &
Sus
an B
erry
Cha
irs
Clinical Centers WGSusan Berry & Kathryn Hassell Chairs
Disease Specific
Workgroups
Laboratories WGStan Berberich & Steve Dobrowolski
Chairs
Bioethics & Legal Issues WG
Ed Goldman & Jeff Brosco Chairs
IT WorkgroupPeter 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
MetabolicHearing Loss
HemoglobinEndocrine
SCIDLSD
Work Groups and Committees
NBSTRN Work GroupsDevelopment Phase
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 PhaseNBSTRN 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.orgWebsite – 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
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www.nbstrn.orgwww.nbstrn.org
Newborn Screening Translational Research Network 9
Virtual Biospecimen RepositoryVirtual 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
DemonstrationDemonstration
Newborn Screening Translational Research Network 11
How to Use This SiteHow to Use This Site
Newborn Screening Translational Research Network 12
Request Process Status BarRequest Process Status Bar
Newborn Screening Translational Research Network 13
Research Support - ResourcesResearch Support - Resources
Newborn Screening Translational Research Network 14
Research Support – Submit a Question
Research Support – Submit a Question
Newborn Screening Translational Research Network 15
R4SR4S
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
Newborn Screening Translational Research Network
21
State-wide Screening Pilots – Cumulative Classic SCID Cases
State-wide Screening Pilots – Cumulative Classic SCID Cases
Long-term Follow-up
Lab Quality Assurance Committee 23
Common Information Data SetCommon 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
NBSTRN Key ResourcesNBSTRN Key Resources
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NB Screening
State Lab
Virtual Repository of Dried Blood Spots (VRDBS)
Region 4 Stork Database
(R4S)
Clinician/Researcher
Site Specific REDCap LTFU db
Researcher
NBSTRN
No PHINo PHI
PHI
ConsentLTFU Data
STFU DataSpecimen
De-identified Specimen Data Web form
Mobile Appor API
Positive De-identified
Specimen Data
Authorization Process for
access
Authorization Process for
access
Access to own patients’ data
Access to de-
identified data
Residual DBS Specimens
NBSTRN and the SACHDNCNBSTRN 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 26
Thank youThank you
Newborn Screening Translational Research Network 27