Linda and the Kelly girls on Orcas Island
Impudent, but -- nice hair
A recent Wall Street
Journal raises some difficult and
interesting questions. Here it is:
At least the questions are interesting to me. I am writing this as a tool to clarify some
issues in my head. You are free, even
encouraged, to correct or dispute my musings.
So, a hypothetical question:
What if a particular mutated gene made it inevitable that you will come
down with an incurable, fatal disease?
Would you want to know if you had the mutation? How about if the disease were curable? Well, for me, the answers are, respectively,
“no”, and “yes”. If I’m certain to
contract the disease and die, why would I want to go through life worrying
about it? There would be some small advantages
to knowing, involving arranging your life to minimize the impact of your death
on your family, but they would hardly repay living years or decades in a state
of constant low-grade anxiety. So, don’t
tell me.
However, what if the disease were curable? Then, of course I would want to know. Then I could arrange close monitoring,
enabling treatment to kick in in the early stages of the disease, when the
chances of cure usually are greatest.
So, tell me.
These musings concern diseases that are inevitable,
if you have the targeted mutation. But what
if the mutation merely predisposes you to the condition, such as the
BRACA mutations in the case of breast and ovarian cancer. In my view, the situation doesn’t change: if
the disease can’t be cured I don’t want to know about it, but if it can be
cured, even if there is only a forlorn hope of cure, then tell me.
God! This is one of
the bleakest and most depressing blogs I have ever written! I apologize.
Maybe my mood is darkened by the fact that my shingles hurt, and that a
power outage last night fried my cable TV connection as well as wrecking
communication between my computer and printer.
I have spent most of the day working on these twin problems: the
computer problem is fixed, but my TV still is on strike.
But here is something from the WSJ article that might
interest you. Apparently there is a gene
(PSEN1) that, when mutated, leads inevitably to early-onset Alzheimer’s. (Note: only 2% of Alzheimer patients have this
genetic flaw, but if you have it you are up a creek.) So, let’s say your mother died of EOA (early
onset Alzheimer’s.) If she passed the
gene to you, your goose is cooked. But
suppose that you want to have children but are terrified of passing your mutation
on to them. In the case of one woman
undergoing in vitro fertilization,
the lab tested her eggs for the mutation, and then implanted the ones that were
clean. All this without informing the
mother whether or not she was positive for the mutation. She chose not to be told if she would get EOA, but she knew her children are safe. What would I do, I wonder? What would you do?
This stuff is abstruse but not hypothetical. Gene-sequencing techniques are improving so
fast (and becoming commensurately cheaper) that inevitably we will have to deal
with lots more of it in the future.
It's so funny to me how you have become a genetic counselor. This is exactly the stuff I was presenting to people when I did that.
ReplyDeleteYeah. Too bad it worked out the way it did. You would have been a good genetics counselor.
DeleteThis Comment has little to do with the blog to which it is attached, but rather is an “alert” to the recurring question of diet and cancer: can we reduce the incidence of cancer, or even cure it, by eating right.
ReplyDeleteCancer Today magazine has a short interview with a medical researcher who has studied diet and health for many years. He describes the difficulties of studying the effect of diet on cancer; little is certain at present, although the link between obesity and cancer is well established. He is confident that headway will be made, however, citing the well-known fact that people in some parts of the world experience little cancer, but upon moving to America and adopting an American lifestyle find their dancer incidence rising. It only remains to see what the “active ingredients” are. Funding for such studies have been hard to obtain, but the purse-strings are loosening. Read the short article yourself:
http://www.cancertodaymag.org/Fall2014/Pages/Harvard-Epidemiologist-Walter-Willett-Diet-Cancer-Risk.aspx
.
I would agree with your answers. If there was no cure, I wouldn't want to know; if there was, I would.
ReplyDeleteIt's always been interesting to me that it's thought that red meat is linked to some cancers (I believe he says colorectal cancers in the article you mention above). It seems that red meat has been a part of the human diet for many thousands of years. I suppose that in most of those years though, the average life expectancy for a human being was around 40 years or less- too young to worry about developing, much less dying of, cancer.
I'm sorry to change the subject completely, but can we talk about vaccinations?! I am totally freaking out up here. I have found some extremely frightening figures today, and I had no idea it was this bad. An article I found that was published in 2013 in the Juneau Empire said that a poll of parents of young children in Alaska showed that nearly 43% of parents in the Prince William Sound area were "vaccine hesitant" (either delaying or totally refusing vaccinations). Another more recent figure I found on the State of Alaska Department of Public Health, Epidemiology site showed that ONLY 55% of children ages 19-35 months are current on their vaccinations. 55%. I couldn't believe my eyes! Somehow this wasn't accompanied by big bold letters, exclamation marks and red font. Kristen, am I crazy, or is this VERY alarming? As a parent of a young (albeit vaccinated) child, I am afraid for his health and the health of our future children. Especially babies too young to be vaccinated. Even Seamus won't have had the full complement of shots until he is about 4 years old.
Sorry to change the subject Grandpa. It's just suddenly very scary to me. I thought maybe one in ten children at most wasn't vaccinated....turns out it's more like half of them, at least here. I plan to write a letter to legislature and to the Dept of Public Health demanding more outreach and education. My friend who does not vaccinate her child has absolutely NO idea how vaccines work, whatsoever. The thought that little babies are going to die because people are choosing not to vaccinate their children is a little much for me to swallow.
I re-read this blog some eight or so months later, and I would like to change something. If I had a mutation that made it inevitable that I would contract a fatal condition, I still might want to know about it under this condition: that the onset of the disease was far in the future, and if research into a possible cure were underway. Bottom line: a disease that is incurable now may not be in twenty years or so.
DeleteSome interesting things to contemplate...
ReplyDeleteGah! This blog drives me crazy. I type out comments and hit publish and they disappear. This has happened multiple times. I need to learn to copy them before hitting publish so I can paste them back in.
ReplyDeleteAmanda, I would not worry for yourself and Seamus and any other vaccinated child. That being said, I think it is the height of stupidity not to vaccinate your child. These are serious diseases that can kill, cause blindness, deafness, and other life altering problems. We have the capability of erradicating them, and yet we choose not to out of sheer stupidity. Sorry, one of my hot button topics - I have no sympathy for people who refuse to vaccinate for any reason.
I asked one of my nurse coworkers about what Seamus might not be vaccinated for at this point, and she thought it was only chicken pox. Which, if he gets it, is not a big deal. We all had it and survived just fine, though you can get shingles later in life as your grandparents both have experienced. I wouldn't worry for Seamus but I would worry for your friend's children. I hope this recent measles outbreak will encourage more people to vaccinate. We've had some cases in Arizona and any child who can not show proof of vaccination is being forced to stay home from school for three weeks. Personally, I think all kids should be forced to be vaccinated to attend school, period. Stepping down off soap box now!
Now, this is exactly the kind of interchange I like to see! This blog will not be worth a hill of beans unless it makes people think. I'd like to see a half dozen comments on every blog, and it doesn't matter a fig if they are right on the point, or not.
ReplyDeleteRe: Alzheimer's
ReplyDeleteIf you ever doubted that our Rube Goldberg genetic physiology is the product of blindly stumbling evolution, contemplate on this:
https://directorsblog.nih.gov/2018/10/16/a-new-piece-of-the-alzheimers-puzzle/