I think I wouldn't want to be a clinical geneticist. Today our class focused on the topic of genetic testing to assess the disease risk of a couple planning to have children. Everyone carries their own risks, be it from ethnicity or other factors. For a single patient though, the risks 1/50 and 1/100 are virtually the same and whether their child has a disease or not is pretty much arbitrary if you think about it. I asked the speaker whether he has actually been able to catch any devastating diseases in the couples that go to see him. He said no, that the numbers of people that seek genetic risk information is so low that it is in no way a viable screening method.
When some other students also asked questions along the lines of methods to avoid or prevent disease, he seemed to become a little flustered. "I don't know where all these questions about changing the allele frequencies of disease are coming from. I'm simply talking about testing for and assessing risk. The goal is not to change people's decisions because of it." This response seemed very paradoxical in my mind and caught me off guard. Actually it caught me in the undercurrent of my thoughts, making me realize that I WAS in fact thinking in terms of how the risk assessment could influence and prevent disease.
I see how his approach makes him a good doctor, faithfully trying to get his patients to understand the underlying genetic phenomenon so that they can make their own decisions. At the same time, it is very well known that such information very seldom makes any difference either in care or in the action of the advice-seeking couple. I'm not sure I would want to stand by every day, watching the natural game of genetics play out its course.
1 comment:
I agree with you although I think most clinical geneticists see a majority of patients that have been diagnosed with a genetic disease and not just at increased risk. Like huntington's, down's syndrome, cardiac defects, metabolic defects, etc. Assessing people may be part of the job, but I think the majority are diagnosable clear genetic diseases. I totally agree that knowing the risks for various diseases may be not that useful and in fact very hard to interpret or act upon. Clinical genetics has succeeded in diagnosing, treating, and counseling patients that have clear genetic disorders.
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