# NY ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

> **NIH NIH R01** · ALBERT EINSTEIN COLLEGE OF MEDICINE · 2024 · $758,319

## Abstract

PROJECT SUMMARY
Newborn Screening (NBS) is celebrating its 60th anniversary as one of the most important and
life-saving public health programs in the United States. NBS has enabled countless babies with
rare disorders to lead productive lives because of early detection and early treatment. Importantly,
current NBS panels reflect only a fraction of the potentially screenable disorders, i.e. disorders
that are serious, treatable, and detectable in dried blood spots (DBS). There are many other
disorders where affected children would benefit from early detection. Thus, there is an ever
pressing need to expand our current NBS practices. Pilot NBS programs are necessary to gather
objective data about the feasibility, accuracy, and outcome of screening for new disorders.
ScreenPlus is a multi-disorder, multi-tiered, flexible pilot NBS program that screens consented
infants from diverse backgrounds for a panel of 14 rare disorders in addition to those on New
York’s routine panel. ScreenPlus includes long term follow up of identified infants to enable
analysis of critical outcome data, with the goal of describing pre-symptomatic disease
progression, identifying optimal times to initiate therapy, and determining whether there is a
benefit to early detection. Parental engagement is at the core of ScreenPlus and includes parental
education and informed consent, as well as a series of surveys, qualitative interviews and focus
groups to elicit parental perspectives on the complexities of NBS expansion. The creation of a
complex cost share infrastructure with funding from NIH, industry sponsors, and patient advocacy
groups has enabled the program to effectively and efficiently function with transparency and
mutual benefit. Our current funding cycle showed exceptional progress in all aspects of the study.
We validated screening assays, contracted with sponsors, and initiated live screening. We
identified affected infants who are now being monitored and treated as needed. We created and
executed parental surveys, which are providing fascinating and important insights into the future
of NBS expansion. In this Competitive Renewal application, we hope to build upon the remarkable
progress that we have made thus far to provide critical, detailed data to help guide objective,
ethically sensitive decision-making about NBS expansion.

## Key facts

- **NIH application ID:** 10977851
- **Project number:** 2R01HD073292-11
- **Recipient organization:** ALBERT EINSTEIN COLLEGE OF MEDICINE
- **Principal Investigator:** Melissa Pittel Wasserstein
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $758,319
- **Award type:** 2
- **Project period:** 2012-09-04 → 2029-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10977851

## Citation

> US National Institutes of Health, RePORTER application 10977851, NY ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program (2R01HD073292-11). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10977851. Licensed CC0.

---

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