Newborn Screening Translational Research Network

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

• 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

NBSTRN

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

LPDRMaintain 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-DWMaintain 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

CDEsFacilitate…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

• 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!

NBSTRN Tools

•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. VRDBS

•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.

R4S

ELSI

Advantage

Newborn Screening Translational Research Network

Acknowledgements

5

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health

NBSTRN -HHSN27520130001C