Josh

Dr. Carpenter had taken care of 3-year-old Josh since he was born. One afternoon, Dr. Carpenter received a call from Josh’s parents, both of whom were successful professionals. Josh’s dad had just been diagnosed with Huntington’s disease, a degenerative, neurological disorder, and the parents wanted Josh to be tested for the disease. The genetic polymorphism for Huntington’s is autosomal dominant, so Josh had a 50-50 chance of inheriting the gene from his father, and, if he did, he would develop the disease if he lived to middle age.ment is available.

After offering her condolences to Josh’s parents, Dr. Carpenter expressed what she considered to be a consensus opinion on the matter: “At present, there is no prevention, treatment, or lifestyle change that has an effect on expression of the gene. For these reasons, pediatric and genetic medicine specialty societies advise against testing children. Josh will have plenty of time to decide whether he wants to be tested once he is an adult.”

“I disagree completely,” said Josh’s mom. “If Josh grows up knowing he has this condition, he will be much better prepared to deal with it as an adult. He’ll be forming his identity over the next 18 years. Assuming he has the disease, he won’t face the trauma of having his identity and life plan change all at once.”

“But you’ll be denying him the chance to make the decision as an adult,” replied Dr. Carpenter. “Maybe he will decide not to know.”

“Isn’t that what parents do?” said Josh’s dad. “They make decisions for their children. If we take your approach, Josh may be 25 when he discovers that he wishes he knew all along whether or not he has Huntington’s. But he won’t have that option because of our decision not to test him. The choice to do nothing is still a choice, Dr. Carpenter.”

*http://virtualmentor.ama-assn.org/2009/09/pdf/ccas2-0909.pdf