Evidence map›Paper›PMID 35132176›Full record

ArticleEuropean journal of human genetics : EJHG2022

The case for screening in early life for 'non-treatable' disorders: ethics, evidence and proportionality. A report from the Health Council of the Netherlands.

Shona Kalkman, Wybo Dondorp

Abstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
  4. Happy 30th birthday to the European Journal of Human Genetics!European journal of human genetics : EJHG · 2022
    Article
  5. 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

2 authors.

Shona KalkmanHealth Council of the Netherlands, The Hague, the Netherlands.
Wybo DondorpDept of Health, Ethics & Society, School for Public Health & Primary Care (CAPHRI), Maastricht University, Maastricht, the Netherlands. w.dondorp@maastrichtuniversity.nl.ORCID 0000-0003-4052-7192

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In the Netherlands, the call to add 'non-treatable' disorders to the newborn bloodspot screening programme has found a sympathetic ear with the Government. In 2019, the Health Council of the Netherlands was formally asked for advice on the conditions under which bloodspot screening for such disorders might be offered. Here we present the reasoning and the recommendations of the resulting report, and briefly discuss its reception. The report holds on to the classical view that screening must benefit the child, but argues for a wider account of child benefit than only in terms of substantial health gains. However, screening for 'non-treatable' disorders would still require evidence of a favourable benefits to harm ratio. The report presents a framework for such screening, but concludes that apart perhaps from Duchenne Muscular Dystrophy (DMD), no or only very few 'non-treatable' disorders would at present meet its criteria. Setting up a screening programme that might benefit only a small percentage of families struggling with uncertainty about their child's diagnosis would not seem proportional. Instead, the Government is advised to invest in a better infrastructure for early referral, testing and care. The reaction to the report from proponents of such screening shows that the dividing line in the debate is not about whether screening neonates for 'non-treatable' disorders is acceptable in itself. It is rather whether such screening should be regarded as catering to a parental 'right to know', or as a public health service that should be subject to standards of evidence and proportionality.

Indexed as

Muscular Dystrophy, DuchenneNeonatal ScreeningChildFamilyHumansInfant, NewbornNetherlandsParents

Identifiers

PMID35132176
PMCPMC9554018

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

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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.