I’ve had a couple of years to tell people about my job when they ask about my career, and let me tell you, the responses I get are always interesting…if not wholly uninformed. Some people think I am the person in the lab who actually runs genetic tests. Some people think my job is to convince people to get abortions if their baby has a genetic condition. Others think I am a proponent and worker of eugenics. My favorites are those who think somehow my job involves genetic forensics and catching criminals based on DNA. No, my job is none of those things. All genetic counselors do is inform people about what genetic options are out there and what they mean and support them through the decision process and the results. (And that is how I like it!)
After explaining what I do, the next questions people generally ask are related to conditions in their family that they think are genetic, but would like to know more about. For example, common questions include: Do you think obesity is genetic? Do you think autism is caused by vaccines? Am I going to get diabetes because my mom struggles with it? Am I going to die of Alzheimers because my dad was diagnosed with it? Are there really “for sure” tests to diagnose genetic conditions right now?
Every time, I take a breath and pause for a long time. Because though these questions are ones that have been brought up by the media time and time again with what seem like black and white answers, in reality, most answers are long and complicated and very ambiguous. The reason is because though we do have a map of the human genome, at this point we do not yet have a clear understanding of everything in this map. We know all the A’s, T’s, G’s, and C’s (nucleotides) within the genome, but we can’t yet pinpoint what each of them influences and the results those yield on the human body.
Sure, there are conditions we have a pretty firm grasp on like cystic fibrosis, Huntington’s, Fragile X…but even with those conditions, we see exceptions to the rule. Just because you have two mutations for cystic fibrosis in the CFTR (cystic fibrosis) gene, for instance, doesn’t mean you will have typical symptoms of CF. Some gene mutations cause such mild symptoms that people don’t even know they have cystic fibrosis until late age or ever. I had one doctor in his 50’s call me, for instance, who had finally put the puzzle together and realized he had cystic fibrosis and so did his sister. After all this time, he had wondered why they both had similar respiratory issues. Lo and behold, the test results came back proving it.
Though I went into the field of genetics thinking I would find clear answers about how our DNA blueprints influence the body and mind, I instead had to learn to appreciate and embrace ambiguity. What I also learned about ambiguity, though, is the freedom of the unknown. In one of my school projects, I interviewed a family who has a child with a condition they believe is genetic but no test has yet proven it. I asked them if this was hard for them- the not knowing of whether their daughter would learn to talk or walk or run or if she could even understand them at all. They said at first, it did bother them. Over time, though, they realized it was for the best. The not knowing gave them the ability to accept their daughter as she was and also as whomever she was going to be. They have hopes for her, but not expectations. They are grateful for the progress she makes every day and do not compare her to other children. They treat her as though she can understand them and love her just as they love their other children.
I also came into the genetics field with the opinion that knowledge is power, that more knowledge is always better. This has changed within me too. As I’ve seen more and more patients learn something they didn’t realize they didn’t want to know about their genetics and thus implications of their future child or their future health, I’ve realized that the consequences of knowledge are sometimes worse than consequences of not knowing. I’ve seen countless people choose to have an amniocentesis because they too thought knowledge was power only to find out that their baby had a genetic condition and the decision to do – or not do- something about it was worse than going through the pregnancy unwittingly.
I have also seen people let knowledge take power from them. The anxiety of knowing one is going to develop Huntington’s or has a high chance of developing breast cancer can bring people to devastating and paralyzing lows, though sometimes it does the opposite and brings them to acceptance and appreciation of themselves and their lives and the people around them. They may take measures to reduce their risks or live the best they can with what they have. Both are normal reactions, and yet unpredictable.
I have seen the other side of the coin- people taking knowledge and throwing it out the window. They take a label and say, “Screw it. I am not this disease. I am me.” I see them struggle (like every one of us) and still overcome the limitations medicine and genetics foresee for them. They sometimes live longer, better, healthier, happier lives than we imagine they will. They are resilient, they are beautiful, they are teaching the world that genetics- nature- and even nurture are sometimes nothing in the face of human will.
And so, you see, when people ask these questions about genetics (obesity, diabetes, autism, Alzheimer, genetic testing, etc), I have a hard time answering them. I can give them by-the-book answers. I can tell them about conflicting studies. I can tell them facts I have in my head. But what I really want to tell them is “You have so much more control than you think you do!” I want to tell them that these questions you’re asking are not the point. I want to show them these patients that came into my life who showed me that a genetic “condition” is not always what the doctors tell you it is, and that even genetic testing that is “for sure” does not predict exactly what you or your child or future child is going to be. I want to tell them that yes, there are some things outside of our control in our DNA, but how we deal with those things out of our control is in our control every single day.