Evidence map›Paper›PMID 38790210›Full record

ReviewGenes2024

Genetic Screening-Emerging Issues.

Martina C Cornel, Karuna R M van der Meij, Carla G van El, Tessel Rigter, Lidewij Henneman

Abstract readReview
In one paragraph

Review in Genes, 2024. 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. Article
  5. Review
  6. Article
  7. Article
  8. Review
  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

5 authors.

Martina C CornelSection Community Genetics, Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1007 MB Amsterdam, The Netherlands.ORCID 0000-0002-5397-5544
Karuna R M van der MeijSection Community Genetics, Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1007 MB Amsterdam, The Netherlands.ORCID 0000-0002-1801-588X
Carla G van ElSection Community Genetics, Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1007 MB Amsterdam, The Netherlands.ORCID 0000-0003-2201-2320
Tessel RigterSection Community Genetics, Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1007 MB Amsterdam, The Netherlands.ORCID 0000-0002-6038-6289
Lidewij HennemanSection Community Genetics, Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1007 MB Amsterdam, The Netherlands.ORCID 0000-0003-3531-0597

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In many countries, some form of genetic screening is offered to all or part of the population, either in the form of well-organized screening programs or in a less formalized way. Screening can be offered at different phases of life, such as preconception, prenatal, neonatal and later in life. Screening should only be offered if the advantages outweigh the disadvantages. Technical innovations in testing and treatment are driving changes in the field of prenatal and neonatal screening, where many jurisdictions have organized population-based screening programs. As a result, a greater number and wider range of conditions are being added to the programs, which can benefit couples' reproductive autonomy (preconception and prenatal screening) and improve early diagnosis to prevent irreversible health damage in children (neonatal screening) and in adults (cancer and cascade screening). While many developments in screening are technology-driven, citizens may also express a demand for innovation in screening, as was the case with non-invasive prenatal testing. Relatively new emerging issues for genetic screening, especially if testing is performed using DNA sequencing, relate to organization, data storage and interpretation, benefit-harm ratio and distributive justice, information provision and follow-up, all connected to acceptability in current healthcare systems.

Indexed as

Genetic TestingNeonatal ScreeningPrenatal DiagnosisFemaleHumansInfant, NewbornPregnancycascade screeningDNA sequencinggenetic carrier screeninggenetic screeningneonatal screeningprenatal screeningscreening criteria

Identifiers

PMID38790210
PMCPMC11121342

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.