Evidence map›Paper›PMID 33074550›Full record

ArticleJournal of community genetics2021

Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide.

Martina C Cornel, Tessel Rigter, Marleen E Jansen, Lidewij Henneman

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of community genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed, 2 pooled it
11.8field-weighted citation impact, top 1% 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.

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

33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 56 citations in OpenAlex.

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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

4 authors at 1 institution in 1 country.

Martina C CornelClinical Genetics, Section Community Genetics, Amsterdam Public Health Research Institute, Amsterdam Reproduction and Development Research Institute, Vrije Universiteit Amsterdam, Amsterdam UMC, De Boelelaan 1117, Amsterdam, The Netherlands. mc.cornel@amsterdamumc.nl.ORCID https://orcid.org/0000-0002-5397-5544
Tessel RigterClinical Genetics, Section Community Genetics, Amsterdam Public Health Research Institute, Amsterdam Reproduction and Development Research Institute, Vrije Universiteit Amsterdam, Amsterdam UMC, De Boelelaan 1117, Amsterdam, The Netherlands.ORCID https://orcid.org/0000-0002-6038-6289
Marleen E JansenClinical Genetics, Section Community Genetics, Amsterdam Public Health Research Institute, Amsterdam Reproduction and Development Research Institute, Vrije Universiteit Amsterdam, Amsterdam UMC, De Boelelaan 1117, Amsterdam, The Netherlands.ORCID https://orcid.org/0000-0002-7847-683X
Lidewij HennemanClinical Genetics, Section Community Genetics, Amsterdam Public Health Research Institute, Amsterdam Reproduction and Development Research Institute, Vrije Universiteit Amsterdam, Amsterdam UMC, De Boelelaan 1117, Amsterdam, The Netherlands.ORCID https://orcid.org/0000-0003-3531-0597
Amsterdam University Medical Centers · NL

Funding

ZONMW 543002006ZONMW 854020002
6 · The paper itself

Abstract

Screening for rare diseases first began more than 50 years ago with neonatal bloodspot screening (NBS) for phenylketonuria, and carrier screening for Tay-Sachs disease, sickle cell anaemia and β-thalassaemia. NBS's primary aim is health gain for children, while carrier screening enables autonomous reproductive choice. While screening can be beneficial, it also has the potential to cause harm and thus decisions are needed on whether a specific screening is worthwhile. These decisions are usually based on screening principles and criteria. Technological developments, both treatment driven and test driven, have led to expansions in neonatal screening and carrier screening. This article demonstrates how the dynamics and expansions in NBS and carrier screening have challenged four well-known screening criteria (treatment, test, target population and programme evaluation), and the decision-making based on them. We show that shifting perspectives on screening criteria for NBS as well as carrier screening lead to converging debates in these separate fields. For example, the child is traditionally considered to be the beneficiary in NBS, but the family and society can also benefit. Vice versa, carrier screening may be driven by disease prevention, rather than reproductive autonomy, raising cross-disciplinary questions regarding potential beneficiaries and which diseases to include. In addition, the stakeholders from these separate fields vary: Globally NBS is often governed as a public health programme while carrier screening is usually available via medical professionals. The article concludes with a call for an exchange of vision and knowledge among all stakeholders of both fields to attune the dynamics of screening.

Indexed as

Carrier stateExpanded screeningGenetic carrier screeningNeonatal screeningRare diseasesReproductive autonomyScreening criteriaTechnologyTreatment

Identifiers

PMID33074550
PMCPMC8141077
OpenAlexW3092996979

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.