Would you want to know you have an Alzheimer's gene?
If you carried a gene that made it more likely you would someday get Alzheimer's disease, would you want to know?
How would you react to knowing that your risk for getting the progressive, fatal brain disorder was 50 percent?
A University of Michigan study out in today's New England Journal of Medicine suggests that people react much better to the news than expected. Disclosure of the genetic testing results in adult children of Alzheimer's patients did not have short-term psychological effects -- even in those who were told they carried the gene. Those who found out they did not carry the gene were relieved, though even without the gene, someone can still get Alzheimer's.
Widespread testing for the apolipoprotein E genotype is not done, mostly because there is nothing anyone can do with the information that they have the gene. Besides, plenty of people have the gene and never get Alzheimer's. If treatments progress in the future, this knowledge could be useful, but at this point it is not.
There is genetic testing for Huntington's Disease, a fatal neurodegenerative disorder. If you have the gene, sooner or later you will get this awful disease that has no cure. There has been a lot of debate over whether people who have a parent with the disease should be tested for the gene. Some people opt against it, not wanting to know they have a death sentence.
Dr. Constantine Lyketsos, an Alzheimer's expert at Johns Hopkins Bayview Medical Center, told me he thinks the most important finding in the New England Journal of Medicine paper could be that people generally take bad news pretty well. They may suffer temporary distress, "but most people get over it pretty quickly."
One drawback of the study, though, was that researchers weeded out people who suffered from any anxiety or depression. Those folks might have more trouble handling the news.
Comments
I used to work for a large pharma in genetics and this was always a large discussion topic, from the very worst to the very least of genetic disorders. The group I worked with always differed to genetic counselors whenever individuals were both being tested and being given results, because it is always an individual’s right to decide both to be tested and then to know the results. It is a complex issue and to oversimplify a bit, if you knew you were destined to die in a car crash, would you quit driving?
As the science progresses, these questions will become more prominent. There are already health professionals out there advocating testing and screening for everyone. While there are some advantages to knowing personally, those advocating the screenings may want to know for what may seem more sinister reasons, i.e., there's no point in helping you because you're going to die anyway. That statement may seem harsh, but some very prominent people in positions that matter have said it.
Dr. Allen Roses team just announced the discovery of another gene variation (TOMM40) in addition to APOE, which has been reported to even estimate the age of disease onset. Knowing this information may very well allow a person to live their life accordingly and plan ahead. On the other hand, it could very well destroy their will and desire to move forward in their lives.
Posted by: Chris | July 16, 2009 10:59 AM
Thanks for the post, specially for focusing on Alzheimer's Disease. Yes, brain is the most complex part of our body and it is also the most relevant. Brain diseases like Alzheimer's Disease is a great challenge for the present neurologists and researchers. Currently this disease cannot be cured completely but I am quite sure that our neurologists and researchers will certainly find a remedy for this strange and disastrous disease. They are already making rapid progress in this particular field.
Posted by: Brain Disease Information | July 22, 2009 6:16 AM