Abstract

Scientific advancements in the genetic testing and screeningGenetic testing and screening of children have provided answers for some and afforded therapies and preventive guidance for others. These benefits have the potential to revolutionize preventive medicine and categorically change outcomes in specific diseases. Ethical challenges emerge, however, when the benefits of testing come with a price related to its inherent ambiguities and uncertainties. Testing a child at risk for a condition of adult onset, for example, has generated tremendous debate and though generally discouraged, continues to plague clinicians dealing with the nuanced narrative at the bedside. In this chapter we unpack some of the arguments for genetic testing and screeningGenetic testing and screening in children. We use the best interest standardBest interest standard to explore these arguments and acknowledge when it falls short of helping to answer the question “what is ethically permissible?”. We explore the risks and potential harmsHarm done by performing or not performing a genetic test in a child, including psychological effects such as guilt. We highlight the importance of the child’s voice with such concepts as assentAssent, informed consentInformed consent, capacityCapacity and disclosureDisclosure. We explore prenatalPrenatal and newbornNewborn screening, and we address the increasing complexity of the patient as consumer of knowledge and manager of health choices. Finally, we aim to give the clinician a practical guide for determining what is ethically permissible and how to navigate decisions regarding genetic testing and screeningGenetic testing and screening of children. We include these convictions in the context of the North American perspective and offer areas of international discrepancy.