Request for Information: Future Research Needs and Infrastructure Support for Newborn Screening Research
Notice Number:

Key Dates

Release Date:

September 6, 2022

Response Date:
November 04, 2022

Related Announcements

PAR-21-353 Innovative Screening Approaches and Therapies for Screenable Disorders in Newborns (R01 - Clinical Trial Optional)

PAR-21-354 Innovative Screening Approaches and Therapies for Screenable Disorders in Newborns (R03 - Clinical Trial Optiona)
PAR-21-355 Innovative Screening Approaches and Therapies for Screenable Disorders in Newborns (R21 - Clinical Trial Optional)

PAR-21-115 Natural History of Disorders Screenable in the Newborn Period (R01 Clinical Trial Optional)

Issued by

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)



This Request for Information (RFI) is being issued to seek public input and novel ideas to help identify the future research needs for newborn screening (NBS), and how to enhance the current NBS research infrastructure provided through NICHD’s Newborn Screening Translational Research Network (NBSTRN) to best support these future needs.


Newborn screening (NBS) is used to identify infants with congenital disorders prior to presentation of clinical symptoms of disease in order to initiate early treatment and prevent severe morbidity and mortality. Four million newborn infants are screened annually in the United States as part of this mandatory, state-based public health program. NICHD oversees the Hunter Kelly Newborn Screening Research Program, a legislative mandate under the Newborn Screening Saves Lives Act of 2007 and its 2014 Reauthorization, to support, carry out, coordinate, and expand NBS research in four areas:

  • Identify, develop, and test the most promising new screening technologies;
  • Develop experimental treatments and disease management strategies for additional newborn conditions;
  • Provide research findings and data for newborn conditions under review by the Department of Health and Human Services (HHS) Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) to be added to the recommended uniform screening panel (RUSP); and
  • Conduct pilot studies on conditions to ensure that screenings are ready for nationwide implementation.

A comprehensive research infrastructure, known as the Newborn Screening Translational Research Network (NBSTRN), was established in 2008 to ensure a coordinated and responsive approach to effectively organize NICHD’s multifaceted research activities that support the Hunter Kelly NBS Research Program and to help establish the evidence base needed to justify adding new conditions to state NBS programs and the RUSP. Currently managed through a contract to the American College of Medical Genetics and Genomics, the NBSTRN’s centralized NBS research infrastructure has created tools, databases, and resources that have had a significant impact on the success of NICHD’s NBS research portfolio; these are available at:

NICHD is examining how to update and reconfigure this resource to most effectively support the fast-evolving NBS research field. The dramatic changes in NBS since 2008, such as advances in genome sequencing and gene therapy, also provide an opportunity to envision the future of NBS research – and anticipate the upcoming infrastructure needs for future research that can be provided by NBSTRN and/or other resources.

Currently, the NBSTRN provides four data tools to NBS researchers:

  • Longitudinal Pediatric Data Resource (LPDR): a suite of tools to collect, analyze, visualize, and share genomic and phenotypic data;
  • NBS Conditions Resource (NBS-CR): provides key information on disorders that are part of, or candidates for, NBS;
  • NBS Virtual Repository of States, Subjects, and Samples (NBS-VR): an interactive map tool that provides national and state-level information about NBS policies and procedures to help researchers develop collaborations with state NBS programs; and
  • ELSI Advantage: a tool to help researchers consider the ethical, legal, and social issues (ELSI) that may arise in NBS research.

In addition, the NBSTRN offers several resources for NBS researchers, including study planning, common data elements (CDEs) that can be used to build case report forms, facilitation of pilot studies, and letters of support for funding applications. NBSTRN’s Steering Committee and Expert Workgroups provide expert insights across the topics of Clinical Integration; Bioethics and Legal; Pilot Research and Implementation; and Researcher Needs to inform the development of new tools and resources. The NBSTRN also holds events, like annual network meetings and annual research summit meetings, and provides opportunities for NBS researchers to communicate and collaborate with one another, such as through monthly webinars focused on pilot studies or through the NBSTRN Forum membership portal. Finally, the NBSTRN also conducts education and outreach about NBS research, such as through its Newborn Screening SPOTlight podcast and curated lists of resources for specific stakeholder groups like Healthcare Professionals.

In addition to the NBSTRN infrastructure support for NBS research, NICHD also directly supports NBS research through grants and contracts. Investigator-initiated NBS research grants are solicited through targeted grant funding opportunity announcements (FOAs). Since 2005, NICHD has continuously issued a trio of FOAs to support research on innovative therapies, clinical studies, and screening approaches for disorders that are, or could be, screenable in newborns. Spanning the R01 (PAR-21-353), R03 (PAR-21-354), and R21 (PAR-21-355) mechanisms, these FOAs support research on conditions that are already part of NBS panels as well as conditions that are not yet part of NBS but are candidates for NBS inclusion. A complementary FOA (PAR-21-115) provides support for natural history studies of newborn screenable disorders, facilitating data collection on the sequence and timing of symptoms and complications of a disorder and thus enabling clinical trials on new therapies and interventions for newborn screenable conditions.

NICHD uses contracts to support large-scale pilot studies on conditions that have been recently, or may soon be, nominated for addition to the RUSP. These pilot studies support screening for a particular condition in a state-wide population of diverse newborns (50,000-100,000+ newborns within two years), and are awarded to high-throughput screening labs that have the capacity to implement new screening technologies. An important factor in the ACHDNC review of conditions nominated for addition to the RUSP is the successful detection of at least one case in a state-wide pilot. NICHD has supported pilots for several conditions recently added to the RUSP, including spinal muscular atrophy, Pompe disease, and mucopolysaccharidosis types I and II, to provide experience with implementation within state NBS programs.

Information Requested

The NICHD is undertaking a comprehensive landscape analysis to inform a potential update of its NBS research funding approaches and the NBSTRN research infrastructure. As part of this analysis, NICHD is seeking public input on where the field of NBS research is heading in the next 5-10 years, in order to identify future researcher needs, and ways to align the NBSTRN infrastructure to best support these future needs. NICHD is also interested in hearing from researchers about their experiences using NBSTRN’s current tools and resources. Thus, the purpose of this RFI is to gather ideas and suggestions from NBS researchers, other NBS stakeholders, and the public, about the future directions for NBS research, and ways to align the NBSTRN to support that future research vision. While all feedback about the NBSTRN and the future of NBS research is welcome, NICHD is especially interested in public input that reflects the key provisions in the Newborn Screening Saves Lives Reauthorization Act of 2014 that impact NICHD's NBS research activities.

Please provide feedback on the future of NBS research over the next 5-10 years, such as:

  • Topics or domains that could become pressing research priorities over the next 5-10 years, such as gene therapy or development of novel screening approaches;
  • Current unmet needs of researchers that could be addressed by new resources, partnerships, and/or collaborations to enable NBS research;
  • The biggest opportunities and challenges for NBS research in the next 5-10 years, and how NICHD can help address these challenges through its legislative mandate; and/or
  • Infrastructure or resources that are needed to support NBS research in the future, such as new tools, support for data management and sharing, and/or targeted funding opportunities.

Please note that input about specific research topics or screenable conditions will not be as informative as input about broader NBS research trends, though input about gaps of broad categories of conditions would be helpful.

Please also provide feedback on the NICHD's current pproaches to supporting NBS research and suggestions for enhancements, such as:

  • Whether NICHD's current approaches to supporting NBS research and investigators, including through the NBSTRN, meets researchers’ needs, any gaps or needs that are not being addressed, and suggestions for new tools or resources to address these gaps;
  • Improvements or modifications to the current tools and resources that could increase their utility;
  • How to maximize thes investment of NICHD’s limited funds for NBS research; and/or
  • Value of NBSTRN and its resources to enhance and coordinate NBS research, including research study design and support via NBSTRN tools, the usefulness of NBSTRN-developed CDEs, the ability of LPDR to facilitate data sharing and reuse in compliance with NIH data sharing policies (, and workgroups and data systems to promote NBS research collaborations.

How to submit a response

Responses to this RFI will be accepted through 11:59 pm Eastern time on November 4, 2022. All responses should be emailed to Please include the notice number, NOT-HD-22-042, in the subject line of your email. Responses to this RFI are voluntary and may be submitted by an individual and/or on behalf of a group, organization, or institution. All submissions will be considered, and the Government reserves the right to use any submitted information at its discretion. Please do not include any proprietary, classified, confidential, or sensitive information in your response.

We look forward to your input and hope that you will share this RFI opportunity with your colleagues.


Please direct all inquiries to:

Mollie Minear, PhD
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)