Goals of the Hunter Kelly Newborn
Screening Program
Identify, develop and test the most
promising technologies
Increase the specificity of newborn screening
and expand the number of conditions for which
screening tests are available
Develop experimental treatments and disease management
strategies for additional newborn screening conditions, and
other genetic, metabolic, hormonal and or functional conditions
that can be detected through newborn screening for which
treatment is not yet available
Newborn Screening Translational Research Network
NBSTRN
• The NBSTRN is an NICHD funded contract awarded to
ACMG (September 2013 - September 2018)
• Mike Watson, PhD, MS – Principle Investigator
• The NBSTRN will develop, maintain, administer and enhance
resources to support investigators with projects related to
newborn screening for:
– New technologies
– New Conditions
– New treatments and management approaches
Newborn Screening Translational Research Network
Key Areas of Focus
Area
Deliverable
VRDBS
Maintain, administer and enhance reliable virtual repository of dried bloodspots
R4S
Maintain, administer and enhance a laboratory performance database
LPDR
Maintain and enhance a network of centralized and institutionally-enabled infrastructure to support the
capture and managed storage of longitudinal clinical data from individuals following newborn screening
LPDR-DW
Maintain a data repository that securely houses long-term follow-up genomic data, materials metadata and
key phenotypic data for subjects followed within the long-term follow-up dataset
Bioethics
Establish, maintain and administer a web based interactive resource related to the ethical, legal and social
issues relevant to newborn screening investigators
CDEs
Facilitate…the development and use of common data elements and standardized language for newborn
screening disorders and disorders that may benefit in the future from newborn screening
Disseminate
Facilitate the timely dissemination of research findings to: relevant research communities, relevant clinical
communities, state newborn screening programs
Steering
Establish twelve member Steering Committee that will serve in an advisory capacity
Newborn Screening Translational Research Network
NBSTRN Tools
VRDBS
•The Virtual Repository of Dried Blood Spots (VRDBS) is an open-source,
web-based tool that enables NBS researchers to search over 2.9 million DBS
from participating states.
R4S
•The Region 4 Stork tool is a web-based application for the collection and
reporting of analytical results. It has been widely adopted into the routine
practice of newborn screening laboratories worldwide.
LPDR
•The Longitudinal Pediatric Data Resource (LPDR) is a secure informatics
system designed to enable enhanced data collection, sharing, management
and analysis for conditions identified as part of newborn screening or for
conditions that may benefit from newborn screening.
ELSI
Advantage
• The ELSI Advantage is an ethical, legal and social issues resource for NBS
researchers. Information on IRB's, NBS related FAQ's, and templates to customize
your own Consent Forms are available in this resource. If additional ELSI related
questions arise, just ask ELSA, the NBSTRN’s very own interactive avatar!
Newborn Screening Translational Research Network
Acknowledgements
Eunice Kennedy Shriver National Institute of
Child Health and Human Development,
National Institutes of Health
NBSTRN -HHSN27520130001C
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Newborn Screening Translational Research Network
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NBSTRN Tools