Ethical Considerations For Pediatric Genetic Testing: Evaluating the Perspectives of Patients, Families, and Medical Professionals for Predisposition vs. Predictive Diagnosis




Helm, Emily

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The field of genetics erupted after the completion of the Human Genome Project, resulting in the advent and spread of genetic testing for numerous conditions. Alongside this new technology comes a host of ethical considerations, including access to testing, clinical utility of results, and psychosocial implications of this knowledge. Huntington’s Disease, a neurodegenerative disorder with no cure, and Lynch Syndrome, a cancer predisposition syndrome, are genetic conditions caused by a mutation in a single gene with onset in adulthood. Neither condition possesses clinical intervention or preventive measures during childhood, so is it ethical to test children at risk for these conditions before they can participate in the decision-making process? Utilizing a framework of principlism, I assess the perspectives of medical professionals, families, and pediatric patients to determine whether or not it is ethical to test children for Huntington’s Disease and Huntington’s Disease in childhood. Based on the principles of autonomy, beneficence, nonmaleficence, and justice, barring extenuating circumstances in which clinical utility may arise, it is recommended that genetic testing ought to be delayed until the adolescent can participate fully in discussions about testing to minimize psychosocial burdens and preserve the child’s future autonomy.



Genetic testing., Genetic counseling., Pediatric ethics., Principlism., Huntington's Disease., Lynch Syndrome.