Evidence map›Paper›PMID 37987476›Full record

ArticleInternational journal of neonatal screening2023

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders.

Kee Chan, Zhanzhi Hu, Lynn W Bush, Heidi Cope, Ingrid A Holm, Stephen F Kingsmore, Kevin Wilhelm, Curt Scharfe, Amy Brower

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in International journal of neonatal screening, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03211039 (Prenatal Precision Medicine), which is not on this map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
2.3field-weighted citation impact, top 11% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT03211039 naunknown statusnot on this map

Prenatal Precision Medicine (NSIGHT2): A Randomized, Blinded, Prospective Study of the Clinical Utility of Rapid Genomic Sequencing for Infants in the Acute-care Setting

TypeinterventionalSponsorRady Pediatric Genomics & Systems Medicine InstituteRan2017 to 2024Enrolled213ConditionsGenetic Diseases, Genetic Syndrome, Mendelian DisordersArmsGenomic sequencing and molecular diagnostic results, if any.
3 · Its place in the literature

Who cites it

10 citing papers in PubMed, 12 citations in OpenAlex.

  1. Review
  2. A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation.Genetics in medicine : official journal of the American College of Medical Genetics · 2024
    Article
  3. Article
  4. Article
  5. The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges.International journal of neonatal screening · 2024
    Review
  6. Review
  7. Review
  8. Article
  9. Article
  10. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 7 institutions in 1 country.

Kee ChanAmerican College of Medical Genetics and Genomics, Bethesda, MD 20814, USA.
Zhanzhi HuDepartment of Systems Biology, Columbia University, New York, NY 10032, USA.ORCID 0000-0003-2171-0071
Lynn W BushDivision Genetics and Genomics, Boston Children's Hospital Center, Boston, MA 02115, USA.ORCID 0000-0001-6668-188X
Heidi CopeGenOmics and Translational Research Center, RTI International, Research Triangle Park, NC 27709, USA.ORCID 0000-0003-0586-9277
Ingrid A HolmDivision Genetics and Genomics, Boston Children's Hospital Center, Boston, MA 02115, USA.ORCID 0000-0003-4712-8821
Stephen F KingsmoreRady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
Kevin WilhelmDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0003-2686-0976
Curt ScharfeDepartment of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.ORCID 0000-0001-6322-2039
Amy BrowerAmerican College of Medical Genetics and Genomics, Bethesda, MD 20814, USA.ORCID 0000-0001-6621-1247
American College of Medical Genetics · USBoston Children's Hospital · USBaylor College of Medicine · USChildren’s Institute · USColumbia University · USRTI International · USYale University · US

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
Multiplex gene sequencing and metabolomics analysis from newborn dried blood spots to improve screening and diagnosis of metabolic disorders.R01HD102537 · NICHD · YALE UNIVERSITY · PI SCHARFE, CURT · 2020 to 2024
$3.0M
NCATS NIH HHS UL1 TR001863NICHD NIH HHS HHSN275201800005CNICHD NIH HHS R01 HD102537
6 · The paper itself

Abstract

Rapid advances in the screening, diagnosis, and treatment of genetic disorders have increased the number of conditions that can be detected through universal newborn screening (NBS). However, the addition of conditions to the Recommended Uniform Screening Panel (RUSP) and the implementation of nationwide screening has been a slow process taking several years to accomplish for individual conditions. Here, we describe web-based tools and resources developed and implemented by the newborn screening translational research network (NBSTRN) to advance newborn screening research and support NBS stakeholders worldwide. The NBSTRN's tools include the Longitudinal Pediatric Data Resource (LPDR), the NBS Condition Resource (NBS-CR), the NBS Virtual Repository (NBS-VR), and the Ethical, Legal, and Social Issues (ELSI) Advantage. Research programs, including the Inborn Errors of Metabolism Information System (IBEM-IS), BabySeq, EarlyCheck, and Family Narratives Use Cases, have utilized NBSTRN's tools and, in turn, contributed research data to further expand and refine these resources. Additionally, we discuss ongoing tool development to facilitate the expansion of genetic disease screening in increasingly diverse populations. In conclusion, NBSTRN's tools and resources provide a trusted platform to enable NBS stakeholders to advance NBS research and improve clinical care for patients and their families.

Indexed as

databasesethicalgenome sequencinglegalNBSTRNnewborn screeningonline toolspublic healthRecommended Uniform Screening Panel (RUSP)social implications (ELSI)

Identifiers

PMID37987476
PMCPMC10660757
OpenAlexW4388017538

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.