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Predictive Genetic Testing in Children and Respect for Autonomy

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Chapter Summary

Predictive genetic testing of asymptomatic children for diseases that will not develop until adulthood and for which no cure or medical benefit is available is not recommended by international genetic society guidelines. This chapter considers whether predictive genetic testing of children for adult onset diseases may in fact enable and facilitate their developing autonomy. That is, testing may provide clear and defined benefits to the child. The author makes it clear that her focus is on single gene mutation disorders that have almost total penetrance and are currently untreatable and unpreventable. This means that if one has the genetic mutation he/she will go on to develop the disease unless he/she dies of something else beforehand. Such conditions are different from those that are multifactorial in origin; that is, the development of these disorders is dependent on both genetic and non-genetic factors.

Keywords: adult onset diseases; asymptomatic children; international genetic society guidelines; predictive genetic testing; single gene mutation disorders



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