Just because you can test for genetic anomalies should you?

If you and your partner or spouse could test for genetic markers that would predict the likelihood of your child having a genetic disease, would you do it?  And if you did have the test what would you do with the information?  Would this information result in you avoiding having a biological child and pursuing adoption or take the chance that your child would not have the disorder?

In the January 14, 2011 edition of the journal Science a published article indicates that a team of scientists have developed a test that advances the ability of individuals to test for genetic sequences of 448 childhood recessive diseases.  Recessive diseases occur when parents are carriers of a genetic disease or disorder.  An NPR report on the study indicated that soon the test will advance to determine over 500 such diseases.  What struck me in the NPR story was that one of the scientists, who was motivated to develop such a test because his daughter was diagnosed with the devastating terminal Batten disease, did so out of altruism to help others avoid the same pain he experienced.  But he further stated that he had not considered the impact of developing such a test.  But such a discovery does have broad impact and must be considered.

Immediately there are, at minimum, two opposing views on the worthiness of such a test.  On one side this test may present a tremendous opportunity for potential parents to avoid pain and suffering associated with losing a child to a devastating disease that could have been avoided.  On the other hand genetic variability is essential to human existence and poses the question of whether one would act eugenically by eliminating the very possibility of further introducing genetic disease or variation into the gene pool. 

When my bioethics class considered this specific issue many of the students indicated that knowing if they were a carrier of the disease would help them better prepare in the event their child had a genetic disease.  But if having such a child could be avoided altogether some indicated that adoption of a non-biological child would be the next logical step.  Ultimately it seemed that the class was comfortable with having access to the test for preparation and decision-making but I was unclear on whether anyone would actually use it. 

I predict that the cost of the test will be influential as to who will have access to the test.  We then have a potential justice problem in that those with means could determine the potential for having a child with a genetic disorder while those without financial means would not have such privileged information.  What then occurs is that those without financial means have children that are very expensive to care for and they are subjected to more suffering than their wealthier counterparts because they are forced to watch their child die if the disease is terminal.  Such a test creates opportunity but it does have an impact on society and even humankind.

I remember my wife’s doctor asking us whether we wanted to have a basic test to check for genetic anomalies during her pregnancy.  He quickly followed it up with, “And if you do, would it make a difference on whether you continue your pregnancy?”  For us the answers were easy; yes, we wanted the test and no, it made no difference with the exception that it would allow us to best prepare for a child with needs should that be our future.  Of course we were testing for only a few anomalies and not over 500.  At what point is it too much information and are physicians really prepared to help us navigate the odd or chances of each and every potential genetic combination?  I’m uncertain that either society or physicians are ready.