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Genomic Testing in The Paediatric Population: Ethical Considerations in Light of Recent Policy Statements

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Abstract

Genomic testing is rapidly becoming established in clinical practice and research. In this paper we consider the ethical issues arising in genomic testing in children, focusing on the clinical context. After describing how genomics can be said to depart from genetics in ethically relevant ways, we introduce two case studies involving ethical issues in paediatric genomic testing. We then summarise and critically engage with recent professional statements regarding genomic testing in children; notably the 2015 position statement from the American Society for Human Genetics. To provide a conceptual framework for these debates, we then synthesise recent bioethics literature regarding appropriate concepts to use when making decisions regarding children, and applying them to genomic testing. We recommend an approach to genomic testing in children that is child-focused and flexibly applied, driven by a core clinical question. Finally, we examine the role that age and emerging capacity should play in these debates.

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Notes

  1. We focus our discussion on the use of genomic testing in circumstances when a test is being considered to answer a clinical question relating to a child’s diagnosis or prognosis. We do not discuss single-gene genetic testing or pharmacogenomics; nor do we consider the use of genomic testing in ‘first-line’ newborn screening or its provision direct to consumers without clinical recommendation.

  2. In this paper we use the term ‘children’ to mean any person under the age of 16. In Sect. 5 we consider the impact that a child’s developing autonomy and sense of self should have on decisions regarding genomic testing.

  3. We interpret ‘genomic testing’ to include approaches such as whole genome sequencing, whole exome sequencing and panel testing; or other approaches that exploit massively parallel DNA sequencing techniques.

  4. The ASHG and AAP/ACMG may reply to this by contending that their position statements are not ethically normative, merely directions for practice and research. However, they are written using language that could be interpreted as having normative intention, such as the use of ‘should’ and ‘must’. The statements also explicitly reference ethical issues.

  5. It could be argued that acting in a family’s best interests could also be said to be an action in a child’s best interests too. We address this point later in the paper.

  6. This level is explained further by Jonas, who takes a welfare-based account of interests; following legal philosopher Joel Feinberg. One description of an acceptable level of interest-fulfillment is one that meets minimal welfare considerations.

  7. Alongside the scenarios we discuss, other situations may also arise in which a child who is capable of engaging in decision-making expresses an opinion regarding testing that diverges from that of her carers. Such a discussion is beyond the scope of this paper.

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Authors and Affiliations

  1. Centre for Values, Ethics and the Law in Medicine, School of Public Health, University of Sydney, Level 1, Medical Foundation Building, 92-4 Parramatta Road, NSW, 2006, Australia

    Ainsley J. Newson & Lisa Schonstein

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  1. Ainsley J. Newson
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  2. Lisa Schonstein
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Correspondence to Ainsley J. Newson.

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Neither AN nor LS declares any conflict of interest.

Funding

This paper was supported by a New Staff Grant from Sydney Medical School, University of Sydney; awarded to A/Prof Ainsley Newson.

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Newson, A.J., Schonstein, L. Genomic Testing in The Paediatric Population: Ethical Considerations in Light of Recent Policy Statements. Mol Diagn Ther 20, 407–414 (2016). https://doi.org/10.1007/s40291-016-0210-7

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