Procrastination pays off?

[dr_whom]

So three years ago or so my father tested positive for a gene believed to cause thyroid cancer (the RET Y791F mutation, if you're interested). Not because anyone directly related to him has actually had thyroid cancer—indeed, despite being a fairly cancer-prone family, the Dinkins have all been distinctly thyroid-cancer–free. Rather, what happened is that my cousin's wife's father had the mutation and thyroid cancer; and so my cousin's kids were tested for the mutation in case one of them had inherited it from their mother. ...And one of the kids tested doubly positive for the mutation—in other words, she had inherited the mutation from both her parents. Which means RET Y791F exists on the Dinkin side of the family too.

So my cousins and their kids all had their thyroids removed, and my dad tested positive for the gene also but didn't get his thyroid removed, on the more or less sketchy grounds that 'this gene is supposed to cause thyroid cancer by the time you're 40; I'm almost 60 and don't have thyroid cancer so I don't think it's worth the trouble to get my thyroid taken out'. But he quite reasonably urged me and my siblings to get tested for the mutation. And when I was home for my dad's birthday a few months ago, my brother's girlfriend was aghast that none of us had been tested yet, and decided to use her powers of Midwestern guilt to try to shame us all into making appointments for genetic testing. (Apparently Ohio practical guilt is a totally different animal than Jewish neurotic guilt.)

So anyway, today I finally had my appointment for genetic counseling and testing. And while I was there, the genetic counselor looked up some of the more recent research on the RET Y791F mutation and said huh, it looks like in the past couple of years RET Y791F has been reclassified; it's no longer believed to be a cancer-causing mutation. ...So she said I didn't need genetic testing, because even if I do have the RET Y791F I wouldn't need to take any action based on that.

So what this means (apparently I use "so" at the beginning of paragraphs a lot) is that if I had been on the ball and gone to get tested for the mutation in 2008 like I should have, there's a good chance I would have had my thyroid removed unnecessarily. Since I procrastinated about it, during that time Science Marched On, and so by the time I actually made my appointment it turned out that the mutation is "definitely not pathogenic" and I escaped "irreversible clinical consequences". I'm actually a little uncomfortable about that; it seems to reinforce the wrong lesson about the results of procrastination and of letting potentially serious issues slide.

Finally, there's an interesting sort of sociological lesson to be taken from this as well. The reason RET Y791F was misclassified as pathogenic seems to have had something to do with the fact that for a while all of the research on it had apparently been conducted on white Western European people. Once the gene started being studied in—as the genetics counselor not-very-fairly put it—"anyone with any ethnicity", medical scholarship started discovering that it's quite common in Ashkenazic populations (and other populations, such as Koreans) as a benign genetic polymorphism with no particular relationship to thyroid cancer. There's a point to be made here about unstated cultural assumptions of demographic normativity that I don't have time to go into detail exploring because I have to catch a train to Swarthmore.

Comments

[zdenka]

Well, I'm glad you and your family members don't have cancer.

[dumble.livejournal.com]

Wow, that's really disturbing... I'm glad you procrastinated!

[ophblekuwufu.livejournal.com]

First of all, glad to hear that you don't have cancer.

Second, it's my impression that this sort of experience is rather typical. There are really a lot of things medical science hasn't figured out yet, and lots of the things they think they know are probably wrong (starting to hear Weird Al playing about now). Procrastination is probably bad, but healthy skepticism is probably healthy.

[dr_whom]

I mean, it's probably true that part of the reason I procrastinated about it was the conflict between being told that the gene had a high probability of causing thyroid cancer and being told that no one in my family had ever had thyroid cancer—that did reduce my estimate of the urgency of the situation, I mean. But still in situations like that it's probably better to act quickly, you know?

...Is my LJ-cut text there too sensationalistic? Maybe I should change it to "long story short, I don't need to get my thyroid removed" or something.

[lowellboyslash.livejournal.com]

No, no, that's the correct cut. I would otherwise have worried through the whole essay that you had cancer.

Bias in medical matters is so fucking pernicious. Weight normativity has driven me nuts for years.

[http://users.livejournal.com/little_e_/]

Like Ophblekuwufu said, there's a lot which medical science doesn't know as well as it thinks it does. There's a problem that medical research is often dealing with fuzzy hard to determine shit about actual human lives, which makes it hard to replicate and fine-tune experiments... and if you have a finding which could actually save people's lives, there's a sort of moral obligation to spread it as quickly as possible. Add on top of that interpretation of often minor results by non-scientists, the result is that we're often pushed by doctors and other medical personnel to do things which may not be as beneficial as claimed.

Just see my post on Alzheimer's (http://users.livejournal.com/little_e_/340893.html), for example. It seems clear that there is *both* a genetic component and an environmental component to risk. If I were a doctor, I wouldn't be so quick to reclassify the gene as "definitely not mutagenic" (at least not without reading a few studies on the subject) because environment and genetics can interact in unpredictable ways--I'd just say that it doesn't seem to cause cancer in non-white people. Maybe there's something in their diets, or their history, or their habits, or elsewhere in their genes which makes the mutation not a problem--or (probably more likely) something white people are doing that is making their gene a problem.

I remember when Tron was born, (and this is probably still true) the hospitals were all pushing pacifiers as magical baby-life-savers. Even with a sign on his bassinet that said "no pacifiers" I still had nurses randomly shoving them in his mouth and arguing with me when I told them not to. Because there was a study a few years ago which concluded that babies died more often when they didn't have pacifiers than when they did.

To be fair, I haven't read the *actual* study, but I bet neither have any of the nurses shoving pacifiers in my kid's mouth. But I have read some other studies/summaries by medical experty folks commenting on the original study, and frankly, it the conclusion of giving everyone a pacifier sounds like a big over-reach to me, because what the study actually found is that babies who *normally* had pacifiers at bedtime were more like to die if they didn't have them, and the author then presented autopsy cut-aways showing the development of the baby's mouth and how regular pacifier use affects this. So, yes, if your kid uses a pacifier regularly, they may die if you take it away because of the way their mouth has grown to accommodate it, but that doesn't mean a normal kid out in the bush is going to up and die because they never had a paci.

At least, that's one take on the data. Ultimately, you just have to be as informed as you can be, and make the decisions which seem best to you--because 'best practice' in healthcare varies greatly from week to week and country to country...

[midnight-sidhe.livejournal.com]

Deo gratias. *hug*

[midnight-sidhe.livejournal.com]

I'm with LBS; that's the right cut text.

[dr_whom]

Thanks.

[tiamat360.livejournal.com]

Hooray for not having thyroid cancer! And yes, clinical research needs to include women and those of other ethnicities far more than it has in the past. Though to be honest it strikes me as weird that Ashkenazi Jew was a sufficiently distinct group not to be part of "white."

I'm not sure the paper you've linked to, by the way, is more ethnically diverse. It appears to be a group of Americans and Germans - not exactly a sure-fire recipe for diversity, depending on the exact composition of the groups. I am also incredibly bothered by the statement that this mutation is "definitely not pathogenic" - anything "definite" is incredibly hard to show satisfactorily in science, and I'm not convinced that a cohort study like this one would cut it. That said, the mutation-carcinoma correlation in these groups appears weak, and recommending everyone with the mutation have a thyroidectomy does appear unwarranted.

[gymble.livejournal.com]

Ashkenazi Jews are a classic group that happens to be genetically isolated enough to have all sorts of value as a separate control for medical studies. A number of genetically-linked birth defects are linked to this group - different prenatal tests will typically be administered for women with this heritage.

As a woman with very high cholesterol, I always worry about the fact that the vast majority of studies have been conducted on middle-aged, frequently overweight, white men. And basically none on young women of child-bearing age.

I think that medical research is maybe getting better now, but it has horrible history of only using white males as test subjects.

[pastwatcher]

Seriously. I don't get that many prescriptions, so it's astounding the high proportion of times the doctor has to say something like "well, the recommended dosage is for a 200-pound male, so I'll just cut yours in half" because they have no access to better information (and I am 108 lb F).

[pastwatcher]

Yep. Glad you are well but wasn't worried, when I read the post.

[pastwatcher]

Yeah...I am, unfortunately, *very* skeptical of ideas of what causes cancer. Not that I disbelieve correlations like cigarette smoke and lung cancer; there's plenty of research in US tobacco industries documenting this, from times before they had to start turning in all their documents to the government. (I met a woman who does research on this stuff, it is quite interesting.)

[dr_whom]

It wasn't on the basis of that paper that the genetic counselor made the remark about ethnicity—apparently when she was searching for information on the current status of Y791F, she found a bunch of studies from the last couple of years with titles like "RET Y791F in a Korean population", "RET Y791F in an Iranian population", and so on. That was just the only paper that I could remember enough distinctive words from to be able to Google it up after the fact. (I searched on "Y791F" and "irreversible".)