Evidence map›Paper›PMID 39626956›Full record

ArticleJournal of medical ethics2025

Should newborn genetic testing for autism be introduced?

Ramkumar Aishworiya, Hui-Lin Chin, Julian Savulescu

Abstract read
In one paragraph

Article in Journal of medical ethics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

3 authors.

Ramkumar AishworiyaDivision of Developmental and Behavioural Paediatrics, Department of Paediatrics, Khoo Teck Puat - National University Children's Medical Institute, National University Hospital, Singapore.
Hui-Lin ChinDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
Julian SavulescuCentre for Biomedical Ethics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore julian.savulescu@uehiro.ox.ac.uk.ORCID http://orcid.org/0000-0003-1691-6403

Funding

Wellcome Trust 226801
6 · The paper itself

Abstract

This manuscript provides a review of the potential role of newborn genetic testing for autism, and whether the state has an inherent responsibility to facilitate and subsidise this. This is situated within the broader construct of benefits and limitations of genetic testing currently. Potential benefits of such presymptomatic genetic testing include facilitating earlier diagnosis and access to appropriate intervention which can improve the treatment outcome for the child and indirectly benefit caregivers and society by reducing the care needs of the child and adult in future. However, there are several limitations to newborn genetic testing including the variable penetrance of 'autism-risk' genes, marked phenotypic heterogeneity of autism, real-world limitations in access to treatment, potential psychological harm to caregivers and financial considerations. We hence argue for facilitation of diagnostic genetic testing instead, especially for parents who seek to have greater understanding of recurrence likelihoods, related to reproductive decision-making. Facilitation of such testing can be in the form of both financial subsidies and infrastructural elements including availability of testing facilities and trained healthcare personnel for individualised pregenetic and postgenetic test counselling.

Indexed as

Autistic DisorderGenetic TestingNeonatal ScreeningGenetic CounselingGenetic Predisposition to DiseaseHumansInfant, NewbornParentsEthicsGenetic Carrier ScreeningInfant- Newborn

Identifiers

PMID39626956
PMCPMC7617952

What OpenQuestion holds

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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.