Procrastination pays off?
Oct. 25th, 2011 12:39 pm![[personal profile]](https://www.dreamwidth.org/img/silk/identity/user.png){kind=small}
dr_whomSo 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.
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.
