Format

Send to

Choose Destination
Genet Med. 2018 Nov 5. doi: 10.1038/s41436-018-0334-8. [Epub ahead of print]

Foundation of the Newborn Screening Translational Research Network and its tools for research.

Author information

1
American College of Medical Genetics and Genomics, Bethesda, MD, USA.
2
Departments of Pediatrics and Genetics, University of Minnesota, St. Paul, MN, USA.
3
Department of Pediatrics, University of Miami, Miami, FL, USA.
4
American College of Medical Genetics and Genomics, Bethesda, MD, USA. mwatson@acmg.net.

Abstract

In the past 20 years, several policy activities were undertaken that shaped today's newborn screening (NBS) programs and their associated NBS research activities: the Newborn Screening Task Force Report; the Child Health Act of 2000, Screening for Heritable Disorders; the American College of Medical Genetics and Genomics' (ACMG's) Newborn Screening Uniform Panel; and the ACMG expert panel to examine the development of a national collaborative study system for rare genetic diseases. These activities helped conceptualize the Newborn Screening Translational Research Network (NBSTRN) infrastructure and lay the foundation for its current activities. After 10 years, NBSTRN has grown into an organization that provides tools and resources for researchers to conduct research relevant to NBS programs for rare diseases for which data has been siloed locally. Infrastructure includes tools for the analytical and clinical validation of screening tests; the collection, analysis, sharing, and reporting of longitudinal laboratory and clinical data on newborn-screened individuals; and a web-based tool that allows researchers to acquire dried blood spots available for use in research from state NBS programs. NBSTRN also provides tools for researchers such as informed consent templates, disease registries, state NBS profiles, and consultation on planning pilot studies. In time, the growing data will become a resource itself.

KEYWORDS:

genetics; genomics; newborn screening; public health; translational research

PMID:
30393376
DOI:
10.1038/s41436-018-0334-8

Supplemental Content

Full text links

Icon for Nature Publishing Group
Loading ...
Support Center