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Life with a Lethal Gene
Posted by
Zonk
on Sun Mar 18, 2007 12:26 AM
from the choose-wisely dept.
from the choose-wisely dept.
charles robert darwin writes "The New York Times is running a story on young people who are choosing to get genetic tests for conditions like Huntington's Disease that develop relatively late in life. Apparently, while a genetic test for HD has been around for a while, very few people who have a parent with the disease choose to take the test. This story focuses on a young woman who did and tested positive. The piece follows her as she deals with the consequences. '...as a raft of new DNA tests are revealing predispositions to all kinds of conditions, including breast cancer, depression and dementia, little is known about what it is like to live with such knowledge.' With the HapMap and the $1,000 genome, this is something we are all going to face in one way or another very soon, and we really need to start thinking about it."
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Ignorance is bliss (Score:4, Insightful)
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Indeed. Personally, I'd rather not know unless there's something I can do to prevent it. In this case, it seems like that's not the case.
Re:Ignorance is bliss (Score:5, Insightful)
I would also probably be bummed out for a while. But on a long enough scale, we are all dead.
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Re:Ignorance is bliss (Score:5, Insightful)
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Re:Ignorance is bliss (Score:5, Insightful)
But Ms. Moser bristled at the idea that she should have to remain ignorant about her genetic status to avoid discrimination. "I didn't do anything wrong," she said. "It's not like telling people I'm a drug addict."
Its ironic how she goes off through the whole article about how people look at her unfairly, like she has done something wrong. She goes off about how its not her faults and that it is a medical condition and people should understand that. Then she goes an accuses drug addicts of being the people who REALLY deserve the negative attention.
Drug addiction is a disease that is often caused by a set of genes. She is responible for the same discrimination that she feels is wrong. She doesn't realize that drug addicts are just as helpless to avoid onset of their symptoms as someone with Huntington's Disease.
It's bitter irony but it makes me angry to read it. Sometimes it seems like everyone thinks they are special and different and the rules don't apply to them.
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Besides, with the Subprime Meltdown [ml-implode.com] going on (41 major lenders down since Dec 31), you probably can't afford the payments on that new place anyway. You couldn't afford it before, but at least there were people willing to lend you more money than they
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I know I'm not. If I knew that I wasn't going to live to be 40, I'd be living quite differently. I sure wouldn't be squirreling money away into my IRA with quite the gusto I'm now doing it, for starters.
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I didn't say that, nor would it be necessary for me to feel the way I do. I think the feeling of impending doom and the realization that any of my plans involving more than a couple months are now useless would outweigh any short term benefits, such as driving around an expensive car for a few months (as the poster above mentioned).
Would you truly prefer to drive $expensive_car with the knowledge that you'r
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If I knew I was only going to live another six months, you can damn well bet that I wouldn't be showing up for work on Monday. It's not that I dislike my job, precisely, but I don't go there for entertainment. There are a whole lot of other things I'd like to do that would by far take priority.
It's not a question of ju
Re:Ignorance is bliss (Score:5, Insightful)
I think you should also consider that the anticipation of doing something is often better than the actual doing of something. When you find out you have, say, 3 months to live, you can no longer anticipate to do a lot of things, and that makes your last 3 months of living rather miserable, if you ask me.
I guess what I'm really saying here is that my plans for the rest of my life are far more important to me than anything I could do in a final 3 months, regardless of any knowledge of my imminent demise.
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Assertion without facts in evidence... (Score:4, Interesting)
It used to be that once ones heart stopped beating one was considered "clinically dead". But that definition has changed over the years as our understanding of human physiology and biochemistry improved to the point where we could restart hearts.
If one accepts things like mind uploading and the technological singularity enabling things like the evolution of current human beings into "distributed replicated intelligences", then many people alive today might live trillions of years. Given that possibility an assertion that "We're *all* going to die sometime" is highly questionable.
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Re:Ignorance is bliss (Score:5, Insightful)
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Re:Ignorance is bliss (Score:5, Insightful)
(BTW my
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But if enjoying life is doing everything that is bad for you, why not do all that stuff anyways? If you avoid it, by defintion, you haven't really lived.
Is it? One approach to this seems to involve activities that the person cannot recall afterwards and romantic entanglements that they wish they could forget.Re: (Score:3, Insightful)
There are things that are long-term bad ideas but that are enjoyable in the short term.
Buying a sports car by neglecting to save for retirement isn't a good long-term idea. Smoking and getting cancer isn't a good long-term idea. Posting pictures of yourself drunk on the internet that future employers might see isn't a good long-term idea. Majoring in english literature isn't a good long-term idea (few job opportu
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That's a big "if". Sure, lots of people enjoy riding motorcycles, drinking, skydiving, and smoking (though hopefully not all at the same time), and there is nothing inherently wrong with taking some risks to enjoy life more. But there are lots of things that are enjoyable and not bad for you. For instance, last weekend I was invited to a thing where a bunch of people gather out on a beautiful farm in the cou
yawn... (Score:4, Insightful)
How would this affect insurance? (Score:5, Interesting)
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Don't worry, the free market will sort it all out! I mean the free market is the reason America has the best system of health care in the world (and so cheaply). I mean, if one company refuses to insure you, you'll just be able to... oh wait.
What have you been smoking? (Score:4, Interesting)
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Which is why insurance needs heavy regulation (Score:3, Insightful)
Yet another example of a problem a free market cannot solve.
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No, I'm not being particularly religious, but you must be either 20 or younger, or you've never had a disease in your life. It must be so wonderful to not have a chronic disease.
Insurance's purpose is to _spread the risk_. Once you get away from that, you may as well abolish insurance altogether. The thing is before we had health insurance the situation was worse than what we've got right now. Health problems basically bankrupted you then. Either that or you died.
I
Re:How would this affect insurance? (Score:5, Informative)
I used to work at a health-insurance company (customer service and claims processing, it was my first job out of college), so I feel like I should point out that "pre-existing condition" is (in the US, at least) a phrase with a very precise legal definition, and doesn't include a lot of things people commonly think it does.
If you seek out insurance as a private individual, then the prospective insurer can choose not to provide you with any coverage for pretty much any reason they like, and many will if you have an expensive ongoing condition, but group health plans offered through an employer are not permitted to deny coverage -- if insurance is offered to one employee in a given class (usually full-time employees), it must be offered to all employees in that class.
Once you have coverage, there are strict laws regarding what claims may be denied due to pre-existing conditions, and when:
Additionally, many insurers won't bother investigating on claims where common sense says it wasn't a pre-existing condition; so, for example, if you accidentally slice your thumb while chopping onions for dinner, the insurer will probably go ahead and pay the claim. Any sort of sudden/acute onset condition or accidental illness/injury will usually get this treatment, because investigating pre-existing conditions is expensive and time-consuming, and it doesn't make any sense to waste time and money when you know how it'll turn out anyway.
One of the biggest causes of misunderstanding is the insurer's investigation of a condition -- the claim will be put on hold, and the doctor or facility listed on the claim will be asked for records of treatment of that condition during the six-month "lookback" period, as well as information about any other doctors or facilities who may have treated the condition. If the insurer receives no response to those requests, then the insurer is permitted to initially deny the claim (any time there's insufficient information to determine benefits, an insurer can deny the claim un
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This is a major issue... (Score:4, Interesting)
The problem of not getting medical care because you knew you would get the disease is a real BIG problem. How can medical insurance work if there is no unpredictability in when people get sick? I think the basic conclusion that can be drawn from this and what Mr. Collins says: This is a good thing and can lead to much healthier people in general, but with the current system, it presents a whole plethora of opportunities for abuse and misconduct. So, it won't be a good thing until the current medical systems change to something more friendly to gene related therapies, treatment, and detection of disease/maladies.
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Re:This is a major issue... (Score:4, Insightful)
Without religion, half if not more IMO, of the 'secret agendas' that people have will simply disappear.
Just a thought
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Very few genetic factors are certain to cause some disease, most just increase the odds. This is actually one of the odder ones given just how exactly they can link death time to repeats of the sequence (ie: have x repeats you will die at age y plus minus a year).
Yet that is interesting in itself, life insurance will cost significantly more but there is no reason for companies to not give it at all. At the same time you w
Hey, a crystal ball! (Score:3, Insightful)
It's a cultural problem that people aren't brought up to take control of their lives to the extent they can, and leave the remainder to fate, under the name of whatever diety you think looks coolest on your lunch box.
Risking the chance of sounding like a Tyler Durden or John "Jigsaw" Kramer, a fear of knowing one's fate is a true cowardise that has troubled humanity for ages. Faced with one's mortality, humans will avert their eyes in ignorance, fall to their knees in prayer, or just bawl like infants far more frequently than they will take a breath, think of a plan to make use of their life, and strive toward a goal.
This makes sense, when you remember that a large amount of the population, told they have 1% of their lifetime remaining, will look back at the past 99% being sunk into wastetimes like watching American Idol, arguing with potential life-mates over use of hand towels, and choosing for or against the strinne-green sofa. You only notice the time you've wasted when you look at the clock.
Without Treatment, Why Know? (Score:2)
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"Narrowing Discrimination Down to a Science" (Score:2, Insightful)
Right mindset (Score:3, Insightful)
Medicine as a science is evolving sometimes fast, sometimes slow and perhaps there is someday a treatment for terminal disease x or y that we do not have today.
Genetics and Eugenics (Score:3, Insightful)
So we need to ask ourselves a few questions. What are the rational implications to eugenics? Is it ok to "just let it happen", just let the scientists do their work in the name of improving our gene pool by finding techniques to eliminate "undesireble genes? WHAT are undesirable genes? Will it lead to a society of morally inept people? Plastic surgery, once decried as weakness of character and senseless vanity of rich people is now becoming main stream in many circles of the high society - who says that this will not happen with 'cosmetic genetics', and furthermore will this not lead to more imbalance and cause strong resentment between those who can afford it and those who can't?
Avoid Alzheimer's... (Score:5, Interesting)
Well, whatever you do, don't get Alzheimer's disease. It sucks.
My grandmother just turned 94 and has advanced Alzheimer's disease. She can barely walk anymore. I devote a few hours of my life every single day to caregiving. If you've never known someone like this, you really have no idea what's involved. Yeah, we could put her in a home. We could watch her die sooner that way, wearing diapers and ceaselessly, hopelessly calling out for someone to please take her home. As it is now, she wears diapers, but at least we always change them. In nursing homes, they don't.
Have you ever had someone you know and love, who helped raise you and even changed *your* diapers and then helped teach you how to count and how to read and how to do puzzles and math and typing and how to play games, who taught you the names of the plants that grow out in the back yard? And now she can smile and say "Hello", and tell you to get the hell out because she don't know who you are a moment later?
That's Alzheimer's. You can be helping to manage her most intimate financial affairs completely honestly, you can be doing her laundry and getting her medicine and bringing her groceries and cooking her meals and washing her dishes and vacuuming her floors and helping her get to the doctor and even wiping her ass, when she cannot do it herself anymore, and yet she'll still tell you she loves you one night, and the next morning she wants you to go away, go to hell, or just please, please take her home. Because she doesn't know what home means anymore. She's already at home, and she doesn't know who you are anymore.
She knows what she knew in 1920 or 1930 sometimes, funny stories she can still tell sometimes, but she mixes up everyone's names; she doesn't know who is who anymore. She used to speak three languages, English, German, and French. But now she often speaks gibberish, a weird combination of whatever words she still can recall. She can't always understand simple sentences. She's like a kid who cannot learn.
Alzheimer's sucks; nursing homes suck. Go visit one someday if you doubt me. My grandmother's genes and her circumstances allowed her to outlive two of her children. She never got cancer, but that's what killed her elder son at 50. She had a heart attack thirty years ago, but she didn't die of heart disease. That's what killed her elder daughter at 60. Yet my grandmother lives on, as her mind slowly disintegrates.
She still likes to watch children playing, or to meet a drooling baby, maybe a child of someone who helps care for her, brought over to visit. She still likes to pet her cats and smile and watch them roll on the floor with catnip at her feet, she still can interface with her two grandchildren, she still has a sense of humor that we all can understand and sometimes laugh about together.
She doesn't know what year it is or what day it is, and sometimes she can't remember how to properly hold a spoon (or she'll try drinking from it like a straw). But she especially likes bananas and squash and sweet potatoes and chocolate chip cookies. I know this because I'm there sometimes to remind her to take another bite. She says "This is good, thank you!"
And sometimes when you help lift her into bed at night, she'll tell you she loves you. I guess that helps make it all worthwhile.
Anyway, this is what will happen to you if you don't die of anything else or get hit by a bus before your brain starts to degrade. I suppose it hasn't been all bad, I have learned a lot caring for my grandmother. But she is no longer able to offer her opinion.
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Maybe our efforts at keeping people alive, no matter what the quality of life are misguided. 94 years is a good run.
You know, I have been thinking about this for six years now, and I really haven't come to a conclusion. Maybe I'm too young.
Define "quality of life". Define "health". My grandmother enjoys quite good health, her only complaint is occasional constipation and the inevitable aches and pains of being 94 which she cannot even express anymore. She has arthritis, she had an ingrown toenail
Darwinistic application (Score:5, Interesting)
So even if there are moral considerations regarding culling bad genes with abortion there has to be considerations with impact for humankind as a whole or the human race will degenerate in the end. This doesn't mean that any gene defect that is detected should be cause for termination, but there are known defects that can be detected early and are causing conditions that are either terminal early in life or causing an individual to rely on others for survival.
Of course - there are also the dualistic genes where a gene may be a survival feature as well as a limitation. One such gene is protection against malaria if it's present in one chromosome but if it's present in both chromosomes it's instead a fatal blood disease. Anyway the real culprit here is malaria, so eradication of that disease should be a more useful goal.
The interesting thing with genes like the gene for Huntington's Disease and some forms of cancer is the fact that they are triggered late in life. This means that they aren't culled by the usual darwinistic rules and therefore has to be caught by other methods.
And genetic engineering of humans are actually possible today or in the near future - the worries about "superhumans" and things like that are usually exaggerated. Of course - the crafted being will be "superhuman" in the way that it lacks the bad genes that were cut out. Adding "super"-genes to make a human more powerful or get features that aren't human-like etc. is actually a lot more complicated and risky.
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having kids? (Score:4, Insightful)
I tend to think it is, but that's me.
Re:having kids? (Score:4, Insightful)
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Anonymous testing? (Score:3, Insightful)
Anonymous (Score:3, Funny)
Human Ethics/Disease (Score:3, Insightful)
I am all for improving/fixing the human condition and the elimination of all diseases from the human genetic tree.
But what exactly does that mean?
I would like to remind everyone:
1) Right now, at this very moment in fine boards rooms with leather covered chairs the conversation inside drug company board rooms is not very pleasant: How do we best make money off of peoples misery.
OUR misery.
2) These discussions are normally about how NOT to make cures and how to spread out research and development so that cures do not destroy "market potential" or profit margins. More to the point, how can we understand the problem in the context of a "subscription" medication so that if anyone does make a product from the disease, the individual has to continually buy the product to maximize profit stability.
3) I am not even going to get into the ethics of patenting medical procedures for profit or what it means if you cannot get treatment because of a patent problem. People with half a brain should understand the full impact of such a sick system that could only be fashioned from the finest human greed the human mind can envision.
Make no doubt, we have the finest medical/patent science system in the United State of America that human greed can fashion.
Quite frankly I do not see a way to curb the problem of human misery or to break this cycle as long as medical science and research can only be accomplished for profit.
The entire premise, that medical science cannot advance without payment from the victims of disease speaks VOLUMEs about how pathetic we are as human beings:
a) How we respect each other.
b) How compassionate we are.
I see a very BLEAK and very DARK medical treatment future for the vast majority of human beings far into the future.
I love the ability to pursue knowledge, but these kinds of knowledge we are obtaining for private use with regards to genetics makes it quite clear we are not ready.
We have some "house cleaning" to do with respect to points A and B first. I love science, but I would enact a law forbidding further advance of gentic research REQUIRING we work out A and B first before continuing.
Some ways to fix this:
1) Make it illegal for privitization of any sort of medical research.
2) Form a world wide medical research establishment dedicated to the elimination of the top 10 human afflictions, with neurological and systemic diseases such as cancer at the top of that list for massive funding, with all nations contributing materials required to do the research.
3) Form highly publicized media outlets and channels to scrutinize this work being done so that the general public is kept informed on the progress of cures for these diseases.
Any medical team or individual who comes up with such a cure shuld be treated as a "rock star" and a foot note should be made in the history books of this individuals name.
4) Make it a CRIME AGAINST HUMANITY for any group or individuals to use such information in the development of a weapons system, or to block the progress or spirit of research to obtain cures for these conditions. Said court can take each case by cause and effect and pass judgement as agreed.
Anyone caught dealing with a Bio Weapon should be terminated with the weapon they built.
A fitting end for a mad man and his lifes work IMHO.
5) Allow the deomcratization of science for this institution with scientists running for office at such institution with elections held world wide.
# 5 is something we could do to make science more of a daily discussion and much more political. We have too many private PhD's hidden away with no guidance.
Society MUST take control of science and make it a informed and political activity.
It CERTAINLY isn't that way right now and it gives me the "Willies" these people are not under some sort of par
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3) Form highly publicized media outlets and channels to scrutinize this work being done so that the general public is kept informed on the progress of cures for these diseases.
Any medical team or individual who comes up with such a cure shuld be treated as a "rock star" and a foot note should be made in the history books of this individuals name.
I agree with everything you said but in particular this is an insightful statement. I'm not sure how it is in the states but there's not a lot of incentive to go into biotech here (in Canada). The pay is really crappy and there's not a lot of jobs. If I want to become a researcher now I have the option to go to grad school and get paid $18k a year for 5 years, of which school fees will come out of during that time. After that you make decent money, but your wages probably never will be commensurate with yo
"ignorance is bliss" is so pre-enlightment (Score:3, Insightful)
I do understand why people would like to live in a state of ignorance regarding 'the truth', regarding their own fate - i think it's very similar to taking drugs. Sure, you're happy and all, and that's nice, but it's not 'real' happiness. As soon as you know that you may be fooling yourself, it might still work, but you'd still feel as if you'd be missing something.
I think that this is because society simply isn't ready yet for sincerity: when someone is unfaithful, you're supposed to go crazy, instead of talk about it and look into yourself whether you can live with that. If you know you're going to die in a nasty way in a couple of years (like in the FA), society rewards you if you don't tell anyone (insurance policies, dating, etc.). If you know you don't know something when somebody ask you something, most people respect you MORE if you just talk your way out of it instead of actually admitting that you don't know. All this, even though most people I know, once you confront them wit this, will readily admit that it doesn't make any sense, and that our supposedly enlightened society should be open about stuff like that, and actually value sincerity and openness instead of the more globally ineffective hypocrisy that most people seem to be living. Why is that?
Re:Simple solution (Score:4, Insightful)
There reality is that there are no simple solutions that are compatible with American law, and tradition, and our belief in the value of human life (and yes, I know that we mow each other down by the thousands in cars every day.) There really aren't, and that's the problem.
A couple of years before my father died (he had diabetes mellitus, with a capital "D") he was on peritoneal dialysis due to total renal failure, in constant severe neuropathic pain until they put him on Dilaudid, suffered multiple strokes and heart attacks
If I had to go through it again, I wouldn't have talked him out of it. That was selfish of me, although I didn't understand that at the time. You live and you learn.
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