so sometime in the recent past while taking a family history, my patient reported that her husband’s mother had a hysterectomy as a result of uterine prolapse. the husband then covered his ears and didn’t want to hear it, and reported that he didn’t know of this history, mostly jokingly.
i felt obligated to at least explain what his wife meant by “it was hanging low” to him. was that out of line? i’m not sure, but i had accidentally misinterpreted the writing on the family history form for another family member of “MVP – mitral valve prolapse” and “uterine fibroids” to mean all three of: MVP, uterine prolapse, and fibroids, and the clarification was what a conversation the three of us had earlier in her family history, which was why the idea of prolapse was brought up to begin with when we had moved on to his family history
medical histories and family histories are so revealing and often graphic to other family members in the room. I try and gauge what people say that makes others uncomfortable, but on the other hand, i tend to be a very matter-of-fact, this is what it is, it’s your family history take on it too. especially since we assume consent of the information if the patient brought that person into the room.
but it’s especially complicated because these are medical history information facts that my patient’s husband’s mother provided to my patient, and the husband perhaps slightly more oblivious to the details, didn’t want to hear. it’s just another gross female thing guys don’t want to hear about, right?
well, the damage is done i guess.
i always get excited when i hear exciting analogies about genetics. they make explaining genetics in counseling sessions (or in other settings) so much easier. yeah, sure, there’s the ones i’m familiar with:
genes are like a recipe
chromosomes are like a library with the books as genes
autosomal recessive is like two lightbulbs in a hallway
dominant is like two wheels on a bike
translocations are like switching caps on pens
(credits to my instructors and classmates)
but hearing new and exciting ones about commonly discussed topics make my stomach flutter, such as the following quote from Kelly Ormond in a recent ACP Internist blog post by Jessica Berthold about “A brave new world of consumer gene tests” (link below):
Unlike conditions such as Huntington’s Disease, which a person will definitely get if she has a simple genetic mutation and lives long enough, complex conditions like heart disease are usually affected by many genes. And some are more important than others, said Kelly Ormond, program director for Stanford University’s Master’s Program in Human Genetics and Genetic Counseling, and a consultant for consumer genetic testing company Navigenics.
“For common medical conditions, I imagine genes as rocks in a glass. Some are really big rocks, and some are really little. And if you get to a certain point, that glass is going to fill up and push you over the threshold for the condition. Maybe you have two big genes that bring you to the threshold; maybe it’s 10 smaller ones,” Ms. Ormond said. “And maybe it also takes environmental impacts on top of those genes to cause you to develop a condition.”
rocks in a glass huh. simple and elegant, something easily visually imaginable, or for those who just like the visual part, easily recreated in a genetic counseling session..
as a future clinician, tweets like this creep me out:
My 23andMe results are in: the worst thing I have to worry about is my 61% chance of Venuos Thromboembolism.
so is that.. a risk for superficial venous thromoboembolism? or risk for a deep venous thromboembolism (DVT)? or even a pulmonary embolism (PE)? of which the latter two are, i’d say, pretty serious…
its especially weird especially when the response by @23andme is:
meh. who am i to judge… lowly genetic counseling student.