Posted 17 May 2007
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Taking the Plunge into Genetic Testing
Experts urge people to seek genetic counseling before and after testing, though in practicality, some people do not. Here is the story of one man who took matters into his own hands. We have used a pseudonym to preserve his anonymity.
June 2006: Tom Drury knows more about early-onset familial AD than he does about his own father, who developed AD in his forties. "My mother had to send my dad away when I was seven. I only remember bits and pieces about him." Not only was Tom's father unable to bequeath many memories of good times together, but he may also have passed on to his son the gene that cut short his own life. The mutation is known, and at age 36, Tom decided to find out if he carries it, too. He is serious about his girlfriend and wants to get married. The big question is whether to have children. "If I have it, I will never have kids. It's got to stop somewhere in our family." Tom has found a way to obtain the test for free through a research study that will keep his information out of his medical insurance records and from his employer.
July 2006: Tom knows. He has inherited the eFAD gene mutation. He took a day off from work, drove to a nearby town for the results, then drove home. He did not go through a formal genetic counseling protocol.
November 2006: Tom is showing very early symptoms of cognitive impairment. The relationship with his girlfriend has ended. Tom has decided to participate in an observational research study at a major Alzheimer research center in a different part of the country. (For more on genetic testing, see Genetic Testing and Counseling for Early-onset Familial Alzheimer Disease).—Gabrielle Strobel.