Ethics of opportunistic genomic screening in paediatrics: rethinking the risk-benefit ratio

Genome-wide sequencing (GWS) has become an important tool in paediatric medicine, but it may uncover secondary findings (SFs) through opportunistic screening. The disclosure of adult-onset SFs in children, who cannot consent, raises ethical concerns regarding potential psychosocial harm and future autonomy. This paper examines whether parents should have the option to consent to opportunistic screening for actionable adult-onset conditions in their young children. Although there is consensus on disclosing actionable childhood-onset conditions, international guidelines remain divided on the return of adult-onset findings in paediatric populations. Drawing on existing literature, this paper argues for greater consensus around a risk-benefit framework centred on medical actionability. Emerging evidence suggests that the psychological harms associated with predictive testing may be less severe than previously assumed, while actionable findings may provide meaningful benefits to both the child and family. This paper further argues that upholding parental authority through shared decision-making and the concept of family benefit further supports offering parents the option to receive actionable adult-onset findings. In contrast, the disclosure of non-actionable adult-onset conditions is more difficult to justify given the absence of meaningful clinical benefit. In the absence of clear evidence of harm, a more family-centred approach that incorporates pretest counselling and ongoing support offers a practical framework for moving towards greater consensus on this long-debated issue.

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Publication Details

Journal
Journal of Medical Ethics
Published
2026-10-05
DOI
https://doi.org/10.1136/jme-2026-111946
Primary Topic
Ethics and Legal Issues in Pediatric Healthcare
Type
article
Field-Weighted Citation Impact
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article

Ethics of opportunistic genomic screening in paediatrics: rethinking the risk-benefit ratio

Wayne N. Shelton, Gina Marie Geis, Emily Wheeler
Journal of Medical Ethics
Ethics and Legal Issues in Pediatric Healthcare
article

Ethics of opportunistic genomic screening in paediatrics: rethinking the risk-benefit ratio

Wayne N. Shelton, Gina Marie Geis, Emily Wheeler
article en

Abstract

Genome-wide sequencing (GWS) has become an important tool in paediatric medicine, but it may uncover secondary findings (SFs) through opportunistic screening. The disclosure of adult-onset SFs in children, who cannot consent, raises ethical concerns regarding potential psychosocial harm and future autonomy. This paper examines whether parents should have the option to consent to opportunistic screening for actionable adult-onset conditions in their young children. Although there is consensus on disclosing actionable childhood-onset conditions, international guidelines remain divided on the return of adult-onset findings in paediatric populations. Drawing on existing literature, this paper argues for greater consensus around a risk-benefit framework centred on medical actionability. Emerging evidence suggests that the psychological harms associated with predictive testing may be less severe than previously assumed, while actionable findings may provide meaningful benefits to both the child and family. This paper further argues that upholding parental authority through shared decision-making and the concept of family benefit further supports offering parents the option to receive actionable adult-onset findings. In contrast, the disclosure of non-actionable adult-onset conditions is more difficult to justify given the absence of meaningful clinical benefit. In the absence of clear evidence of harm, a more family-centred approach that incorporates pretest counselling and ongoing support offers a practical framework for moving towards greater consensus on this long-debated issue.

Journal of Medical Ethics
Albany Medical College (US), Albany Medical Center Hospital (US)
Openalex Percentile: Top 7%
Ethics and Legal Issues in Pediatric Healthcare
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