Day 137: Shadowing a cancer geneticist

Today’s inane image of the day:

Very late, I know… but this was from the [South] entrance of Beaumont that I’ve grown so used to walking through to get my caffeine fix at Starbucks.

A couple of weeks ago, I had the unique opportunity to shadow a cancer geneticist. Prior to meeting the program director (Dr. Dana Zakalik), I was completely unaware that cancer genetics was even a specialty option. But after coming in to give two fascinating lectures, I thought it would be interesting to see what a day in the clinic would be like.

The clinic team on the day I went in was composed of Dr. Zakalik and a few genetic counselors. Although the only cases I witnessed were patients concerned about breast/ovarian cancers [which make up the bulk of the patients that come in], the clinic also sees patients for hereditary colon cancer [e.g. Lynch syndrome, Familial Adenomatous Polyposis (FAP)]. The general procedure went something like this: a patient would come in for genetic testing [many times in the BRCA1/BRCA2 genes which are directly correlated with a significantly higher lifetime risk for breast/ovarian cancers], undergo a genetic counseling session, decided if a test is right for them, do the paperwork and the blood draw then return a couple of weeks later for the results and discussion with a genetic counselor and a physician. I’m really distilling this process down a lot, so please forgive me.

A couple of things really struck me about the experience: first, was how incredibly detailed the genetic counselor was during the preliminary session. She used a great analogy for what testing the BRCA1/BRCA2 genes means [I might be reproducing this slightly differently, but it’s the same idea] — basically, the genes are like an instruction book that every person has. Usually the book is spelled correctly and the genes can be transcribed/translated into their protein product. But in some cases, there is a misspelled word that leads to genes that don’t function properly. In the case of BRCA1/BRCA2, they are tumor supressor genes so a misspelling can lead to a higher likelihood of developing breast/ovarian cancers. Thus, the genetic test is like a spell check that lets you know if you have a misspelling.

Second, it really showed the importance of an accurate family history. Each patient is asked to provide information on first degree relatives and by the time the patient arrives for their counseling session, a pedigree is drawn up to show if there are any patterns. After seeing a few pedigrees, it became really apparent how much information can be gathered from the tool.

Third, it amazed me just how many people [it was a really busy day — there were so many patients to see!] yet how few people were aware of genetic testing. One patient was really disappointed that she hadn’t been referred by her physician to the clinic earlier on. Although not all hospitals are equipped with a cancer genetics clinic, awareness among physicians about these life-saving preventative measures could really make an impact in the long run.

Overall, I thought the experience was enlightening and really interesting. I was in the clinic for over four hours, but it felt like only an hour had passed. At this point, I’m really drawn to oncology but am still not sure where I want to go with it — although the shadowing experience piqued my interest in the specialty, I do still want a bit more of a patient relationship. I guess we’ll see what else is out there [after all, I do still have quite a bit of time to decide]!

Day 83: Maybe this is it

Today’s inane image of the day:

An activity Dr. Bee had us do during class on Tuesday… we placed felt “muscles”  over the correct area of one of our dissection group members.

On Thursday, we had another patient panel. This particular patient is the mother of a daughter with a mild form of OTCase [ornithine transcarbamylase] deficiency. What caused my tears to flow during the presentation was that she watched her first born child [a son] pass away merely days after his birth due to this inherited X-linked metabolic disorder. [Because the mutation is X-linked, and males only have 1 “X” chromosome, they usually present with the full form of the disorder. Females have 2 “X” chromosomes, so they can be asymptomatic carriers and pass on the mutation.]

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Day 35: Making progress

Today’s inane image of the day:

Ahhh! There are various strains of gram positive bacteria on my kitchen counter!
…oh, wait, I put those there…

By putting post-it notes of the various bacterial strains that I need to know a little too much about [well, actually, I’m glad I know all of this now so that I can stop eating and touching anything since it is all COVERED WITH MICROBES!], I am not really accomplishing much… except maybe reminding myself that this surface has probably come in contact with many of the microbes that I’m currently learning about. I think it’s time to pull out those Lysol disinfectant wipes for the 100th time today…

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