# NEWBORN SCREENING TRANSLATIONAL RESEARCH NETWORK (NBSTRN).

> **NIH NIH N01** · AMERICAN COLLEGE OF MEDICAL GENETICS · 2021 · $2,500,000

## Abstract

Newborn screening (NBS) programs currently screen more than 4 million U.S. infants per
year. The intent of newborn screening is to detect potentially fatal or disabling conditions in
newborns, thereby providing a window of opportunity for early treatment, often while the child is
still asymptomatic. This public health program has saved countless lives through the
identification of infants who are at risk for congenital disorders for which early interventions
and treatments have the potential to reduce morbidity and mortality.
In 2006 the American College of Medical Genetics and Genomics (ACMG) led the development
of newborn screening guidelines that recommend that all newborn infants be screened for 29
"core conditions" and that 25 “secondary conditions” identified during the core evaluations be
reported. These recommendations have been accepted by the Department of Health and
Human Services (HHS) Secretary's Advisory Committee on Heritable Disorders in Newborns
and Children (ACHDNC) (originally authorized by the Children's Health Act of 2000), and the
Secretary of HHS.
There are now 34 core conditions and 26 secondary conditions that form the Recommended
Uniform Screening Panel (RUSP). Most states now use this or very similar panels for newborn
screening. There has been broad acceptance of these screening guidelines by state
screening laboratories, and interest in adding new tests that have been appropriately vetted
to the recommended panel. In addition, under the Newborn Screening Saves Lives Act of
2007 and reaffirmed under the Newborn Screening Saves Lives Reauthorization Act of 2014,
the Hunter Kelly Newborn Screening Research Program within the Eunice Kennedy Shriver
National Institute of Child Health and Human Development (NICHD), part of the National
Institutes of Health (NIH), is authorized to carry out, coordinate, and expand research in
newborn screening. This is in keeping with the mission of NICHD, which is to ensure that
every person is born healthy and wanted, that women suffer no harmful effects from
reproductive processes, and that all children have the chance to achieve their full potential
for healthy and productive lives.
Specifically, the Intellectual and Developmental Disabilities (IDD) Branch within NICHD has
as one of its research priorities to improve screening and early diagnosis for IDD conditions
and develop early interventions and treatments for them. Hence, the Hunter Kelly Newborn
Screening Research Program falls under the purview of the IDD Branch within NICHD/NIH.
Currently, policies related to newborn screening are determined through analysis of the
severity and incidence of each condition under consideration, the specificity and sensitivity of
the screening test, the natural history of the disorder, and the efficacy, safety, and
effectiveness of treatments available for the disorder.
To date, there are thousands of rare disorders that have been identified and hundreds that
could potentially benefit from newborn ...

## Key facts

- **NIH application ID:** 10478772
- **Project number:** 275201800005C-P00006-9999-1
- **Recipient organization:** AMERICAN COLLEGE OF MEDICAL GENETICS
- **Principal Investigator:** AMY BROWER
- **Activity code:** N01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $2,500,000
- **Award type:** —
- **Project period:** 2018-09-26 → 2022-09-25

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10478772

## Citation

> US National Institutes of Health, RePORTER application 10478772, NEWBORN SCREENING TRANSLATIONAL RESEARCH NETWORK (NBSTRN). (275201800005C-P00006-9999-1). Retrieved via AI Analytics 2026-06-11 from https://api.ai-analytics.org/grant/nih/10478772. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*