Ethical Issues Surrounding the Evaluation of Oxidative Phosphorylation Disorders in Children

ABSTRACT

Genetic testing is becoming increasingly frequent as a part of a pediatric evaluation. Oxidative phosphorylation disorders are likewise becoming part of the differential diagnosis for many children with undiagnosed neurologic problems. The complexity of the oxidative phosphorylation pathway and its dual genetic control by nuclear and mitochondrial DNA raise a number of ethical issues dealing mainly with the informed consent process, the respect for a patient's autonomy, the best interest of the patients and their families, as well as issues of genetic discrimination and genetic privacy laws. Open communication with families in pediatric medicine remains the cornerstone of good ethics, along with the skill needed to avoid having ethical issues arise.

KEYWORD

Bioethics - mitochondrial diseases - children

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