Journal article
Should newborn genetic testing for autism be introduced?
- Abstract:
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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.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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- Files:
-
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(Preview, Version of record, pdf, 271.0KB, Terms of use)
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- Publisher copy:
- 10.1136/jme-2024-110166
Authors
- Publisher:
- BMJ Publishing Group
- Journal:
- Journal of Medical Ethics More from this journal
- Volume:
- 51
- Issue:
- 9
- Pages:
- 603-608
- Publication date:
- 2024-12-03
- Acceptance date:
- 2024-11-11
- DOI:
- EISSN:
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1473-4257
- ISSN:
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0306-6800
- Pmid:
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39626956
- Language:
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English
- Keywords:
- Pubs id:
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2068649
- Local pid:
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pubs:2068649
- Deposit date:
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2024-12-18
Terms of use
- Copyright holder:
- Aishworiya et al.
- Copyright date:
- 2024
- Rights statement:
- © Author(s) (or their employer(s)) 2025. Re-use permitted under CC BY. Published by BMJ Group. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.
- Licence:
- CC Attribution (CC BY)
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