# Emerging Challenges in NBS: Benefits and Harms of Receiving Uncertain Prognoses After NBS

> **NIH NIH R01** · CHILDREN'S RESEARCH INSTITUTE · 2024 · $717,365

## Abstract

PROJECT SUMMARY
While newborn screening (NBS) programs have prevented death and disability for scores of children with
inherited disorders over the past 50 years, these programs face significant emerging challenges. Specifically,
the NBS system has ushered in an era in which increasing numbers of parents are leaving the NBS
experience uncertain about their child's future health. This erosion of prognostic certainty stems from the
addition of disorders to NBS panels that have broad phenotypic variability. As a result, a new group of
children called “patients in waiting” are literally waiting to see when – or if – they develop signs and
symptoms of disease. While society mandates that these children be screened, we have little understanding
of the benefits and harms of these uncertain prognoses. Previous studies have provided vital foundational
work on the potential harms and benefits for “patients in waiting;” however, little quantitative and no
longitudinal population-based data exist to inform our care for these children. This gap has significant ethical
and policy implications. From an ethical perspective, it leaves us unsure of the balance of benefits and
harms for children who undergo a mandatory public health program days after birth. From a policy
perspective, it leads to the addition of disorders to mandatory state NBS panel based on incomplete data.
The proposed project’s overall objective is to close this gap by examining the scope and magnitude of
benefits and harms on parents and their children who receive an uncertain prognosis after NBS. We will
accomplish the project objective through a longitudinal multistate cohort study of parents of “patients in
waiting,” with the following aims: 1) To determine the longitudinal scope and magnitude of benefits and
harms on parents and their children who have received an uncertain prognosis after NBS; 2) To elucidate
the longitudinal experiences of parents and their children who have received an uncertain prognosis after
NBS; 3) To develop recommendations for NBS programs that will inform policies and practices to maximize
benefit and minimize harm to children who receive an uncertain prognosis after NBS. In summary, this
project will provide the most comprehensive assessment to date of the benefits and harms of an uncertain
prognosis after NBS and ensure that children and their parents continue to receive a net benefit from this
successful public health program.

## Key facts

- **NIH application ID:** 10913540
- **Project number:** 5R01HD106986-03
- **Recipient organization:** CHILDREN'S RESEARCH INSTITUTE
- **Principal Investigator:** Aaron J Goldenberg
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $717,365
- **Award type:** 5
- **Project period:** 2022-09-21 → 2027-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10913540

## Citation

> US National Institutes of Health, RePORTER application 10913540, Emerging Challenges in NBS: Benefits and Harms of Receiving Uncertain Prognoses After NBS (5R01HD106986-03). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10913540. Licensed CC0.

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