Being a scientist doesn’t always help with science decisionsPosted: May 7, 2018 Filed under: Day in the life | Tags: epilepsy, genetic counseling, genetic testing, Goltz syndrome Leave a comment
I hold a PhD in a biological science, one that uses a lot of DNA information. Right now, my family is trying to decide whether to get Lily some genetic testing, which her neurologist wants to do. My parents want my professional opinion. And…I just don’t know what to say.
Look, I love DNA – I think it’s both mysterious and straightforward. I find it fascinating the way it works, the fact that it can convey so many stories about what it means to be alive. If I had my way, and a lot of money, I’d sequence all KINDS of DNA. (I do have a list.)
But…this is my sister. And they want to do an analysis of how she inherited her DNA, so they want samples from my parents. There may be no help we can get from this test, to make Lili’s life any easier. If we don’t find a way to help her, why do it? For science? I’d vote yes – but I know it’s not all about me. Not all researchers are reputable, or careful, or thoughtful enough with the intimate details of a life that DNA can suggest. Privacy laws in my country, the United States, are not a good protection against the government using our DNA information, and the way other companies use it – including the group that is doing the testing – in a culture that prizes profit over people – and would use my sister’s DNA for their own work…
Like a good scientist, I’m doing my background research. I’m reading more about these tests. I’m reading more about the company’s policies about privacy. I’m reading more about their ability to provide diagnoses and information the neurologist could use to suggest a new or at least more tailored therapy. I’m listening to the words my parents say to each other about this, deciding what their emotions mean as they argue through the possibilities.
(Quick aside: my sister will be 35 less than a month after I type this. For most of that time, I’ve thought we didn’t have a diagnosis for her long list of medical problems. A few months ago, my mom said maybe we do…! Which I just haven’t quite gotten my head around yet. Note to self: blog about it later.)
So: my expertise in genetics isn’t enough to help me figure out what my role should be here. And like so many sibs, a tiny voice pipes up with selfish wants: can I know whether my body harbors these risk factors? Am I too old to have a baby, and if not, could I pass trouble along? And my heart hurts that the probable diagnosis for Lily means we CAN’T do anything bit to ease her life now, or at least “fix” things. I’m not yet sure what, if anything, we might learn that could ease her symptoms. This barely controllable epilepsy has taken such a toll on her.
A good deal of food for thought.