Genetic Testing of Children for Adult-Onset Disorders

Beth N. PeshkinTidbits

When is genetic testing of children for adult-onset disorders a consideration?

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Performing predictive or predispositional genetic testing in children for a disease with adult-onset is generally discouraged. To preserve autonomy and minimize potential harm to the child, testing is often deferred unless there are medical implications in childhood. However, guidelines are not clear cut and recognize that psychological benefits are important to consider, particularly if the child can provide assent. Pre- and post-test genetic counseling is crucial.


American Academy of Pediatrics: Committee on Bioethics and Committee on Genetics; American College of Medical Genetics and Genomics: Social, Ethical, and Legal Issues Committee. Ethical and policy issues in genetic testing and screening of children. Pediatrics. 2013;131:620.

via Beth Peshkin, MS, CGC