Genetic Testing at Birth-Is it too Early?
I recently saw a 50-something year old man for a cancer genetic counseling session. When we got to the concept that mutations in the BRCA genes may increase someone’s risk to develop breast and/or ovarian cancer, he was amazed. He said to me, “If the technology exists for someone to know his or her genetic risk to develop cancer, and there may be something to do to reduce these risks, wouldn’t it make sense to learn this information when someone is young?”
I was pleased to hear this question since it proved to me that he was really paying attention, and although he didn’t realize it, he touched on an issue which is very timely in the world of genetics and ethics. The issue of whole genome sequencing (reading through all of someone’s genes to look for variation) is a hot topic in genetics. Currently, the reasons we might order any genetic testing are if there is an underlying medical issue for the individual, a family history of an issue, or if someone is from an ethnic group that has known founder mutations for particular diseases. When we do this sort of testing, we are looking for relevant mutations in one or more genes or chromosomes.
But recently, scientists have introduced the notion of testing the entire genome of all newborns-even those who are seemingly healthy. (Note: I am not talking about the Newborn Screening panel—AKA “heel stick test” or “PKU test”—which is mandatory in the United States, and tests for about 30-55 diseases, depending on the state). And to make things sound even more exciting, the first baby to ever have his genome sequenced prenatally was born last month in California!
Back in November 2012, Nicole blogged about her discomfort of whole genome testing, as opposed to targeting the genetic testing to the medical issue at hand. When we do whole genome sequencing, we are going to learn about that person’s traits, carrier status, predispositions to childhood and adult-onset disease, and we may even diagnose a disease, possibly presymptomatically (ie- before the person even starts exhibiting symptoms). Some might think that all this information is great, since it’s better to know now than to be surprised when it happens.
Others believe that this type of testing for newborns is unethical. Here are a couple of reasons why:
1-The genes belong to the child, not the parents. Shouldn’t it be up to that child to make this decision?
2- Say we learn that the child is genetically predisposed to having Parkinson’s disease. This most likely will not happen for another 50 or so years, and it may never happen at all. Does he want to be that person who is just waiting to get sick? This may cause anxiety, stigma, and may change the way his family and friends perceives him.
3- If someone learns from a young age that he has a genetic predisposition to a condition, he may ignore the other (non-genetic) risk factors. For example, let’s say someone learns that he has a genetic variant that leads to a high chance of developing diabetes. He may not try to eat healthy foods or exercise or go for checkups because he believes that his genes alone will determine his risk for diabetes. This is what we call “genetic determinism.”
I told my patient that he did not realize that he had opened up a can of worms and that we would need a whole new session just to discuss his question. But he definitely got me thinking.
Posted on July 22, 2014, in Uncategorized and tagged Ashkenazi diseases, bioethics, BRCA, genetic testing, newborn screening, Program for Jewish Genetic Health, whole genome sequencing. Bookmark the permalink. Leave a comment.