Pediatricians are very familiar with screening tests for genetic diseases such as hypothyroidism or phenylketonuria (PKU), in which early intervention can prevent irreversible harm to newborns. Other established genetic tests, such as those for fragile X syndrome, can confirm a diagnosis in an affected child and aid parents in making reproductive choices.

These familiar tests, however, are rapidly being augmented by new tests that may not have such well-proven utility. Some predict the onset of diseases for which there is no treatment, and others simply identify risk factors for late-onset diseases such as breast cancer or Alzheimer’s disease.

To aid pediatricians and policymakers in assessing the proper use of new screening technologies, the AAP Committee on Bioethics (COB) has developed a policy statement on Ethical Issues with Genetic Testing in Pediatrics (


The policy statement addresses three current or potential applications...

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