Evidence map›Paper›PMID 30133725›Full record

ArticleThe Hastings Center report2018

What Genomic Sequencing Can Offer Universal Newborn Screening Programs.

Cynthia M Powell

Abstract read
In one paragraph

Article in The Hastings Center report, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
–field-weighted citation impact
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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

10 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease.American journal of medical genetics. Part C, Seminars in medical genetics · 2023
    Article
  5. Article
  6. Article
  7. Primary care providers' role in newborn screening result notification for cystic fibrosis.Canadian family physician Medecin de famille canadien · 2021
    Article
  8. Article
  9. Article
  10. Review
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

1 author.

Cynthia M Powell

Funding

NC NEXUS, North Carolina Newborn Exome Sequencing for Universal ScreeningU19HD077632 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BERG, JONATHAN S, POWELL, CYNTHIA MARION · 2013 to 2018
$6.3M
NICHD NIH HHS U19 HD077632
6 · The paper itself

Abstract

Massively parallel sequencing, also known as next-generation sequencing, has the potential to significantly improve newborn screening programs in the United States and around the world. Compared to genetic tests whose use is well established, sequencing allows for the analysis of large amounts of DNA, providing more comprehensive and rapid results at a lower cost. It is already being used in limited ways by some public health newborn screening laboratories in the United States and other countries-and it is under study for broader and more widespread use, including as a core part of newborn screening programs. Sequencing technology has the potential to significantly improve these essential public health programs. For many of the conditions that newborns are already screened for, sequencing can return more specific and more sensitive results. The technology could also enable newborn screening programs to expand the list of rare pediatric conditions that they look for, thereby identifying more infants who can benefit from immediate care.

Indexed as

Genetic TestingHumansInfant, NewbornNeonatal ScreeningUnited StatesWhole Genome Sequencing

Identifiers

PMID30133725
PMCPMC6863503

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.