From: hangingjudge23x@gmail.com   
      
   Genetic Testing and Counseling for Early Onset Familial Alzheimer Disease   
   By Gabrielle Strobel   
      
      
   "I am finding out this month. If I have it, I will never have kids. It's got   
   to stop somewhere in our family." Tom Drury (a pseudonym), 36.   
      
   "If I knew I carried the mutation, I would not be able to get up in the   
   morning." Jane Smith (a pseudonym), 26, at risk for eFAD.   
      
   Interview with a Genetic Counselor: Jennifer Williamson is a genetic counselor   
   at the Taub Institute for Research on Alzheimer's Disease and the Aging Brain   
   and the Gertrude H. Sergievsky Center at Columbia University, New York    
      
   Genetic Status Protocol: Get a sense of the careful process you may want to   
   ask for should you decide to find out about your genetic status.   
      
   Introduction    
   Early onset familial Alzheimer disease (eFAD) is an autosomal-dominant genetic   
   disease. This means that in each family it is caused by a mutation in a single   
   gene, and that a single copy of the mutant gene, inherited from one parent,   
   will cause the    
   disease. The discovery in the mid 1990s of eFAD genes aroused the specter of   
   knowing one's genetic future, not only for patients but also for their   
   children and entire families. Indeed, the age of genetic testing is here. DNA   
   testing has been used since    
   the mid-1990s for Huntington disease (HD) and certain types of cancer. The   
   experience with these families provides helpful guidance for families with   
   eFAD, who have turned to genetic testing more recently. Indeed, there is a   
   large literature on genetic    
   testing for HD and a small but growing literature for AD.   
      
   Genetic tests can be used to confirm the presence of an eFAD gene in a patient   
   who already has symptoms. Testing can also predict who will develop the   
   disease in the future. Whichever way they are used, genetic tests force us to   
   ponder knotty ethical and    
   life questions. If you are today a perfectly healthy 25-year-old who has seen   
   a parent claimed by this disease, would you want to know if you face the same   
   fate--or have escaped it? How will this knowledge change your life? Will   
   knowing this help you, or    
   harm you? A few brave souls have already taken the step of finding out. Some   
   have learned that they do have an eFAD gene. You will read about them in some   
   of the stories that accompany this series. You will learn how these pioneers   
   have already entered    
   the world of genetic medicine. Some volunteer for trailblazing research   
   studies to understand how their disease will develop, and perhaps to have a   
   chance to try to prevent it. Others have used the knowledge that they carry an   
   AD mutation to have a baby    
   by preimplantation genetic testing, to ensure their child will be free of the   
   eFAD gene.   
      
   People who choose DNA testing for early onset familial AD represent the kind   
   of patient envisioned for the future of "genomic medicine"--a new science in   
   which each person's genetic makeup would determine the health care geared   
   toward altering his or her    
   genetic prognosis. Today, people who are at risk of eFAD are stuck in a limbo   
   between knowledge of the genes that cause eFAD and ignorance of how to   
   intervene. The genetic testing for eFAD is available but remains bewildering   
   to lay people and even to    
   many physicians. The preventive care is not in place at all, but academic   
   research efforts in this direction are gearing up (see essay: Where to Turn   
   for Research: Human Studies of eFAD). As this area grows--and experts agree it   
   inexorably will--it is    
   important to develop it with exquisite sensitivity for the best interest of   
   the patients and their families. This includes education of families and   
   physicians, as well as more research on how people who have been tested fare   
   over the long term.   
      
   Why Do People Request Genetic Testing for AD?    
   Candidates for genetic testing cite a range of reasons, some altruistic,   
   others practical, some psychological. Some of those apply to all categories of   
   DNA testing for AD--diagnostic, predictive, susceptibility--while others are   
   primarily at work in    
   predictive testing.   
      
   It's important to realize that while genetic testing can indeed help you   
   address many of these issues, it is not necessary for all of them. You can   
   allay some of your concerns without knowing your genetic status, e.g., prepare   
   finances for your children,    
   draw up advance directives. Genetic counseling can be invaluable to sort those   
   things out. For further reading, see Williamson and LaRusse, 2004.   
      
   Checklists for Families and Providers    
   Experience with eFAD genetic testing so far has led to some generally accepted   
   recommendations. Every interested family member--not just the family   
   spokesperson--should ask for this information:   
      
   People are motivated to contribute to genetic research, either for their own   
   benefit or that of their younger relatives and coming generations.   
   People hope that effective treatment will be developed in time for them, and   
   hope to be eligible to participate in clinical trials.   
   People cite the need to know. Particularly as they approach the age of disease   
   onset in their family, their anxiety intensifies and they cannot stand it   
   anymore.   
   Some believe they already have the disease. Fear makes them doubt their mental   
   faculty, and question every instance of forgetting. Many of these cases prove   
   not to carry the mutation.   
   People want to plan their finances: long-term care and disability insurance,   
   retirement, advance directives, and will.   
   People want to plan their families: will they have children or not, get   
   married or not?   
   People want to make changes in their lifestyle: spend more time with family,   
   exercise, eat more healthily, etc.   
   People want to know what to tell their children, family.   
   Clinicians can consider these questions before initiating genetic testing with   
   a given family:   
      
   About Genetic Testing    
      
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