Genetics and the Unknown Unknowns

3:36 PM

Author | Nonie

As I waited patiently to cross at the intersection of Maiden Lane and Fuller on the way to lecture today, I was thinking about how I've been obsessed with genetics for a decade. A decade is a drop in the bucket in the scale of evolutionary time, but it's also close to half my current age. My first inspiration into the world of genetics came from genetic counselor Kelly Ormond in the 7th grade. So you can imagine my excitement that our first M1 lecture of the day was from Dr. Gelehrter on the role of genetics in medicine.

Gregor Mendel, the Father of Modern Genetics (Credit: Wikimedia commons)

Dr. Gelehrter did not disappoint, giving us an overview of Mendelian genetics in a lecture punctuated by a lights-out reading from Mendel and many New Yorker comics. The most engaging part for me was the clinical examples he provided throughout the lecture. Last week genetics was largely about A,T,C,&G's, promoters, introns, etc., but now it's about families, progressively developing diseases, and how to alleviate suffering.

While I may not remember all the clinical presentations that were mentioned (yet!), I think I'll take with me two quotes that Dr. Gelehrter mentioned in lecture today. The first was from Mark Twain:
"It's not what you don't know that will hurt you,
It's what you know for sure that just ain't so."
As an M1, it's clear that there is so much that I don't know. I'm incredibly humbled by how patients and their families know far more about their diseases than I can fathom. While this may not be scientifically true throughout my career, I'll have to keep in mind that every patient's experience is different. They are best able to capture what their disease feels like to them. What are their goals for their care? What are their priorities in life? What I know "for sure" will not apply equally to every case. Keeping that humility throughout my career will serve myself and my patients well.
More food for thought from Dr. Gelehrter:
"There are also unknown unknowns. There are things we don't know we don't know." - Donald Rumsfeld.
While Rumsfeld certainly was not speaking about genetics, the sentiment applies perfectly. (It should be noted that Rumsfeld cites NASA administrator William Graham as the originator of this quote.) Not long ago, we called DNA we didn't understand "junk DNA," and now we're learning how it can contribute to disease. I'll be keeping an open, curious mind so I can be receptive to those unknown unknowns as they become known. (Say that 5 times fast!)

Gregor Mendel, the Father of Modern Genetics (Credit: Wikimedia commons)

Overall, I've been loving M1 year so far: learning from inspirational faculty and making time for new and old friends. That includes a weekend trip up to Traverse City/ Suttons Bay for the Vineyards to Bay 5k (thank you to flextime quizzing and to my friend Michelle for running with me!).

Next time, I'll give you an update from our new course, called "Doctoring," in which our faculty are teaching us how to interview patients and take basic vital signs. I also have my first Initial Clinical Experience (ICE) visit tomorrow at a Physical Medicine and Rehabilitation clinic, and I look forward to telling you all about what it's like to be part of a inter-professional team. Until next time!
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