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awkward conversations in clinic

November 22, 2009 1 comment

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.

analogies for genetics

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..

original article:

http://www.acpinternist.org/archives/2009/07/genetic.htm

via:

@genomicslawyer

following 23andme on twitter is depressing..

as a future clinician, tweets like this creep me out:

by @taohansen:
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:

@taohansen Did you find anything else of interest in addition to the Venous Thromoembolism in your #23andme results?

meh. who am i to judge… lowly genetic counseling student.

check-in

my research is taking the unfortunate turn away from an asian-american focus and looking more broadly at racially/ethnically diverse populations. okay, maybe that’s not unfortunate, but not what i’d initially envisioned at least. most importantly, i’m trying to decipher what the cultural and personal values are that influence the racial/ethnic disparities that we see in prenatal screening and testing uptake. but in designing this study, it really looks more at more broadly, what these values are, and how they influence a woman’s perceived severity of prenatal screening outcomes (the conditions that are screened for). rarely have the women themselves been asked “hey, what do you want screened on prenatal screening if it were your decision, how good/bad of an outcome would you consider those things, and would you consider screening or terminating over it?”. that’s the general gist. asking the client/patient themselves, what do they see as valuable Read more…

ornithine, citrulline, and.. A.S.S.?

February 23, 2009 Leave a comment

you spin me right round baby right round like a record baby...

you spin me right round baby right round like a record baby...

oh how incredibly fun urea cycle disorders are. i actually am being serious because surprisingly, they make so much sense, and when the biochemical geneticists explain this stuff, it awes me how incredibly elegant diagnoses can be made, and how swift interventions can be performed.

well, i’m slowly working my way back into the real world after my weeks of non-existence. more to come later about lots of things!

Categories: clinicals Tags: ,

check-in

February 2, 2009 1 comment

i think i’ll start a new series of posts that i can use to keep myself on track and get a good idea of what’s happening in my training/coursework/projects/research/internship search and get my thoughts together regarding what needs to be done next.

courses

motivational interviewing today was great. we’re learning techniques of reflective listening, and attempting to be able to reflect complex thoughts, feelings, and issues back to our clients/patients by really getting them to explore. instead of just doing a “content reflection” as it’s called, we basically move the mirror to different Read more…

my first reach out

so having gone up to north for an outreach pediatrics clinic, let’ me just say. the snow really sucks! it’s everywhere, piled as high as the houses, and utterly impossible to drive at night when it’s blowing straight into the windshield.

however, i really enjoy this model of genetics accessibility. it certainly provides convenience to the families who live up north who can’t easily make the 3 to 4 hour to impossible drive (depending on snow conditions) down to any major medical center with genetics services. it’s a good way to provide continuing care for these individuals with genetics diagnoses. also it allows people with fewer means, more immediate Read more…