Should newborn genetic testing for autism be introduced?

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.

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Publication Details

Journal
Journal of Medical Ethics
Published
2024-12-03
DOI
https://doi.org/10.1136/jme-2024-110166
Primary Topic
Autism Spectrum Disorder Research
Type
article
Field-Weighted Citation Impact
0.00

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article

Should newborn genetic testing for autism be introduced?

Julian Savulescu, Hui‐Lin Chin, Ramkumar Aishworiya
Journal of Medical Ethics
Autism Spectrum Disorder Research
article

Should newborn genetic testing for autism be introduced?

Julian Savulescu, Hui‐Lin Chin, Ramkumar Aishworiya
article en

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.

Journal of Medical EthicsVol. 51(9)
National University of Singapore (SG), Khoo Teck Puat Hospital (SG), University of Oxford (GB), National University Hospital (SG), Wellcome Centre for Ethics and Humanities (GB)
Wellcome Trust
Gender equality, Peace, Justice and strong institutions
Openalex Percentile: Top 77%
Autism Spectrum Disorder Research
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