Can predictive testing be done during pregnancy or used to test children?

[Anonymous]

Can predictive testing be done during pregnancy or used to test children?

[Genetic Counselor]

The use of predictive testing before birth or in childhood depends heavily on the specific condition involved, its age of onset, and whether earlier knowledge would change medical care, and these situations are approached differently from predictive testing in an at-risk adult.

• Prenatal testing refers to testing performed during an existing pregnancy to determine whether a fetus has inherited a familial genetic change, and is available once the causative variant is known in the family. This is a significant decision that is typically preceded by detailed genetic counseling covering the accuracy of the test, the meaning of possible results, and the range of options a person may consider in response to the results, and it remains entirely the choice of the pregnant individual.
• Preimplantation genetic testing is performed on embryos created through in vitro fertilization, before a pregnancy is established, and allows selection of embryos that have not inherited the familial genetic change, for those who wish to reduce transmission risk without facing decisions during an ongoing pregnancy.
• Predictive testing of minors, meaning children younger than eighteen who currently have no symptoms, is treated with particular caution by professional genetics organizations, including the National Society of Genetic Counselors, which generally recommends against predictive testing of asymptomatic minors for conditions that only begin causing symptoms in adulthood and for which no medical intervention would be started earlier as a result. This position is based on preserving the child’s own future right to decide, once they are old enough, whether they wish to know this information about themselves.
• Exceptions for childhood-onset conditions: When a condition can begin causing symptoms in childhood, or when starting surveillance or treatment early in childhood would meaningfully change outcomes, genetic testing in childhood is often appropriate and is handled through the same kind of careful counseling process used for affected individuals.

Families facing these situations are strongly encouraged to work with a clinical geneticist or genetic counselor familiar with the specific condition in their family, since the right approach differs considerably from one condition to the next.

[Author]

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