Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Jun 30;7(3):37.
doi: 10.3390/ijns7030037.

The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts

Amy Brower  1 , Kee Chan  1 , Michael Hartnett  1 , Jennifer Taylor  1
Affiliations

The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts

Amy Brower et al. Int J Neonatal Screen. .

Abstract

The goal of newborn screening is to improve health outcomes by identifying and treating affected newborns. This manuscript provides an overview of a data tool to facilitate the longitudinal collection of health information on newborns diagnosed with a condition through NBS. The Newborn Screening Translational Research Network (NBSTRN) developed the Longitudinal Pediatric Data Resource (LPDR) to capture, store, analyze, visualize, and share genomic and phenotypic data over the lifespan of NBS identified newborns to facilitate understanding of genetic disease and to assess the impact of early identification and treatment. NBSTRN developed a consensus-based process using clinical care experts to create, maintain, and evolve question and answer sets organized into common data elements (CDEs). The LPDR contains 24,172 core and disease specific CDEs for 118 rare genetic diseases, and the CDEs are being made available through the NIH CDE Repository. The number of CDEs for each condition average of 2200 with a range from 69 to 7944. The LPDR is used by state NBS programs, clinical researchers, and community-based organizations. Case level, de-identified data sets are available for secondary research and data mining. The development of the LPDR for longitudinal data gathering, sharing, and analysis supports research and facilitates the translation of discoveries into clinical practice.

Keywords: LPDR; NBSTRN; RUSP; long-term follow-up; newborn screening; research.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
ACHDNC Statement on LTFU.
Figure 2
Figure 2
(A) Subject’s Longitudinal Care Timeline and (B) REDCap Electronic Case Report Form.
Figure 3
Figure 3
LPDR Projects Available for Secondary Use.
Figure 4
Figure 4
LPDR Data Visualization.
See this image and copyright information in PMC

References

    1. Advisory Committee on Heritable Disorders in Newborns and Children Recommended Uniform Screening Panel. [(accessed on 12 April 2021)]; Available online: https://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/....
    1. Lloyd-Puryear M.A., Brower A.M. Long-term follow-up in newborn screening: A systems approach for improving health outcomes. Genet. Med. 2010;12:S256–S260. doi: 10.1097/GIM.0b013e3181fe5d9c. - DOI - PubMed
    1. Sontag M.K., Yusuf C., Grosse S.D., Edelman S., Miller J.I., McKasson S., Kellar-Guenther Y., Gaffney M., Hinton C.F., Cuthbert C., et al. Infants with congenital disorders identified through newborn screening—United states, 2015–2017. MMWR Morb. Mortal. Wkly. Rep. 2020;69:1265–1268. doi: 10.15585/mmwr.mm6936a6. - DOI - PMC - PubMed
    1. Kemper A.R., Boyle C.A., Aceves J., Dougherty D., Figge J., Fisch J.L., Hinman A.R., Greene C.L., Kus C.A., Miller J., et al. Long-term follow-up after diagnosis resulting from newborn screening: Statement of the US Secretary of Health and Human Services’ Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Genet. Med. 2008;10:259–261. doi: 10.1097/GIM.0b013e31816b64f9. - DOI - PubMed
    1. Hinton C.F., Feuchtbaum L., Kus C.A., Kemper A.R., Berry S.A., Levy-Fisch J., Luedtke J., Kaye C., Boyle C.A. What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children. Genet. Med. 2011;13:861–865. doi: 10.1097/GIM.0b013e3182209f09. - DOI - PubMed