Title

Neurobehavioral Genetic Testing in Children: How Much Should We Know?

Publication Date:
Updated:

Collection Editor(s):

Collection Editor(s)
Name & Degree
Claire Sathe, MD, JD
Work Title/Institution
Fellow, Division of Hematology/Oncology, Department of Medicine, Columbia University Irving Medical Center
Name & Degree
Paul S. Appelbaum, MD
Work Title/Institution
Dollard Professor of Psychiatry, Medicine & Law, Vagelos College of Physicians & Surgeons, Columbia University

Introduction

Recent advances in genetics have yielded important insights into the etiology of autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDDs). Professional societies such as the American Academy of Pediatrics and the American College of Medical Genetics and Genomics now recommend testing patients newly diagnosed with ASD and some other NDDs with chromosomal microarray analysis (CMA). CMA can identify alterations in the number of copies of various regions in the entire genome for the purposes of comparison with known normal and pathogenic patterns. Although testing is recommended, neurobehavioral genetic testing of children remains fraught with ethical concerns. These concerns are amplified because of the vulnerability of the pediatric population and the complexity of this set of conditions, which are often neither fully explained nor resolved by genetic results. 

The articles below introduce the ethical issues that arise at the intersection of genetics, pediatrics, and neuropsychiatry. Among these, issues of consent in pediatric care always warrant special caution, as most medical decisions are made through surrogates, typically parents, who act as “…

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Recent advances in genetics have yielded important insights into the etiology of autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDDs). Professional societies such as the American Academy of Pediatrics and the American College of Medical Genetics and Genomics now recommend testing patients newly diagnosed with ASD and some other NDDs with chromosomal microarray analysis (CMA). CMA can identify alterations in the number of copies of various regions in the entire genome for the purposes of comparison with known normal and pathogenic patterns. Although testing is recommended, neurobehavioral genetic testing of children remains fraught with ethical concerns. These concerns are amplified because of the vulnerability of the pediatric population and the complexity of this set of conditions, which are often neither fully explained nor resolved by genetic results. 

The articles below introduce the ethical issues that arise at the intersection of genetics, pediatrics, and neuropsychiatry. Among these, issues of consent in pediatric care always warrant special caution, as most medical decisions are made through surrogates, typically parents, who act as “gatekeepers” for their child’s care. Heightened scrutiny is particularly justified when the test may reveal powerfully predictive information with long-term implications beyond the patient’s childhood. There is also an emerging discussion about the use of genetic screening outside of clinical settings and family circles, particularly in schools, with the idea of offering targeted educational resources to students with pathogenic findings – a suggestion that raises new questions as to who should control and benefit from the genetic testing of children. 

For now, genetic testing does not typically yield immediate practical benefits for affected children, as interventions for NDDs and behavioral disorders are not informed by genetic findings. But beyond this limited “clinical utility,” researchers now recognize a “personal utility” to genetic testing. Many families report positive psychological outcomes from pathogenic genetic results, such as an improved sense of clarity and control. However, those benefits must be balanced against the pitfalls of genetic results that can be ambiguous and easily misinterpreted. 

The etiologies of most NDDs and behavioral disorders involve complex genetic and environmental contributions, and genetic results alone provide only a small piece of the puzzle. Genetic testing may leave children with potentially stigmatizing diagnoses and promote a sense of genetic determinism and pessimism about the prognosis of the child. Ultimately, whether neurobehavioral genetics research truly serves patients and families will depend not only on advances in the field, but also on our ability to offer genetic counseling and support services along with testing, ensure equal access to diagnostics and care, and include a broad community of stakeholders in this conversation.

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Who Are the Gatekeepers? Decision-Making in the Era of Genetic Testing
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When Knowledge is Power: Parental Perspectives on Clinical and Personal Utility
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The Perils of Genetic Determinism, Stigma, and Discrimination
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Drawing the Boundaries: Overview of Recent Ethical Reflections and Guidance
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Tags
Genetic Testing
Testing children
autism spectrum disorder
autism
pediatric
Genetic Determinism
genetic discrimination

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