In college I used to be big into the whole skinny jean thing. I still appreciate a good fit in my jeans, but I can’t fathom the lack of utility and freedom in the skinny jeans today. I used to wear Levi 511’s which were their skinny fit jeans a few years ago, but now I wear their 513’s which are straight slim fit.
Anyway, for our first exam block in medical school we had a huge section of Genetics. The subject has never interested me. So, naturally, I decided to write about it. The next few paragraphs will be kind of medical/science speak, and I don’t mean to write like this to alienate my readers or to puff myself up. I actually find this practice rather helpful for my study as it is essentially me teaching what I’m learning and that allows me to reinforce what I know and determine what I don’t know (so I have to look it up). Maybe this will continue to be a thing for me as I continue to study the rest of the semester! I’ll italicize these sections as they aren’t necessarily essential to the blog entry, but they can add a little more depth and trace the background of my thoughts.
There are a lot of genetic disorders, and their pathogenesis, or the way they become a disease (i.e. method of mutation), varies. You might have a base-pair substitution in the gene which could cause a missense (not necessarily lethal) or nonsense (lethal) mutation, a deletion or insertion which would cause a frameshift mutation (usually lethal), or maybe a mutation in non-coding DNA which would affect the regulation and expression of your genes.
If an individual with a mutation reproduces, then we have to consider the possibilities of inheritance of the disease. This is where the infamous Punnet Square is utilized, but, thankfully, medical school doesn’t overly emphasize that square. Instead, our professor emphasized pedigree analysis for the different modes of inheritance: autosomal dominant/recessive, sex-linked dominant and recessive for the X chromosome, Y-linked dominant, and other non-standard methods of inheritance (mitochondrial, genetic imprinting, etc.).
There are classic disorders that arise from each method of inheritance. Achondroplasia, a disorder in which your long bones don’t grow at a normal rate and is a cause of dwarfism, is an autosomal dominant disorder. Cystic fibrosis, primarily understood by me as a problem with secretions in the respiratory and GI tract, is an autosomal recessive disease. And then there are disorders when you receive more or less than the normal 46 chromosomes. Those diseases are called anueploidies.
The aneuploidies are what got me thinking. I was in the midst of reviewing (lol what else do I do) the disorders and their characteristics when I realized that these are diseases I will start seeing in the coming 2-4 years. I’m “merely” reading and studying about Klinefelter Syndrome and muscular dystrophy, but eventually I will be seeing patients with these diseases–and I’ll know the pathogenesis. For some reason that makes me feel a little more involved, as if I have a responsibility to the patient with those diseases. I mean, who else will know the pathogenesis as intimately as the physician ought to? I think that sets a foundation for the physician: that his or her education necessitates a commitment to the patient on the basis that the physician possesses knowledge that is otherwise absent. That’s what I signed up for when I entered medical school.
On top of this, I think back to my days at the clinic when the doctor I worked with would occasionally remark that genetics would become a larger part of medical practice in the future. I definitely see that happening since the subject is so relevant and the techniques for screening and visualization have great utility and will certainly only advance further. This, of course, then opens the door of medical ethics which, given my background in Theology, is an interesting subject that I would like to be able to have a deep and educated opinion about. I know that having this information about genetics and inheritance patterns will certainly influence some individuals in their family planning. Should it?
Obviously a disease is something we all want to avoid. Further, there are some genetic diseases which do not allow for good chances of survival beyond a year such as Edward Syndrome (prominent occiput, CNS and heart defects, <5% survive beyond one year). Given the ability to counsel a couple on the chances that their child might have a genetic disease, shouldn’t we provide the service? I’m unopposed to providing the service, but I am hesitant about the implications of the service. People can draw up the “genetic breeding” and revive the “Aryan race” sensationalism, but I’m more concerned about what this indicates about our capacity to love.
Parenting is tough, and I imagine it only becomes tougher when your child has a disease. Yet, I don’t think that should change our capacity to love our children. If a parent’s love is contingent on whether his or her child is healthy or diseased, then I think it is no longer love–it becomes a want. A child becomes something selfish for the parent. However, I also do appreciate the transparency and honesty of parents who admit that they don’t think they could invest themselves into raising and loving a child with a disease. That’s honest, that’s where they are, and we should not measure judgement on those individuals. I’m only sharing a concern for what our collective capacity for love could start to become.
So, in the future, could genetics become a milestone for humanity? Will it eventually lead us to an ultimatum of sorts? It could mean that eventually we’ll be able to decide who we want to love. But that’s when love ceases to exist. I think there’s some component of love that requires imperfection: “It is not the healthy who need a doctor, but the sick.” If everything was what we wanted, how would we demonstrate love? It’s almost like love is apophatic, but that’s only part of it. If I ever decide to have a child, I’m sure my mind will wander back to the first weeks of OMS-I when I memorized the aneuploidies, microdeletions, and inheritance patterns of genetic diseases, but I hope that won’t change how I love.