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Discussing the Option

Genome sequencing is increasingly a tool in pediatric clinical practices, researchers with the Clinical Sequencing Exploratory Research Consortium Pediatrics Working Group say, adding that pediatricians need to be able to explain the implications of genome sequencing results to patients and their parents.

"One of the great advantages of genome sequencing is that it gives answers to people who have spent years looking for a diagnosis for their children with developmental disorders," says Laurence McCullough from Baylor College of Medicine in a statement.

To help pediatricians navigate these waters, the working group has developed an ethics-based framework to guide discussions of disclosing genome sequencing results to patients and patients' parents, as it reports in Pediatrics this week.

When suggesting genome sequencing-based testing, McCullough and his colleagues say pediatricians need to explain to patients and their parents what sort of test is being proposed, what that test examines and how complex it is, what sort of results it may provide, and what secondary or incidental findings may also be uncovered.

Then, the working group says, the decision regarding pursuing such testing should consider the three core concepts of pediatric ethics: the best interests of the child standard, parental surrogate decision-making, and pediatric assent.

"Pediatricians should obtain the informed permission of parents and the assent of mature adolescents about the scope of sequencing to be performed and the return of results," the researchers say.

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