Under which condition(s) would genetic testing for predisposition to an inherited disorder in a minor child be considered reasonable?

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Quizplus · Accepted Answer

Predisposition testing of children is not routinely performed unless there is beneficial treatment available. Just having the parents "want to know" is not enough. In most instances, the recommendations are for the child to make his or her own decision regarding genetic testing as an adult. However, when the risk for the disorder is high and beneficial treatment is available, testing may be done in childhood to begin treatment for prevention of the disorder or for severity reduction. An example is the autosomal-dominant disorder of familial adenomatous polyposis (FAP). People who have the genetic mutation develop thousands of colon polyps and have a 90% or greater risk of having early-onset colon cancer. If a child tests positive for this genetic mutation, he or she has yearly screening for colon cancer. After adolescent growth is complete, the recommendation is that the child have a total colon resection to greatly reduce the risk for colon cancer. If the number of polyps is so high even in early childhood that cancer surveillance is too difficult, the colon is removed in childhood.

Under Which Condition(s) Would Genetic Testing for Predisposition to an Inherited