Sequencing the Unborn 146
sciencehabit writes "What if you could read much of your child's medical future while it was still in the womb? Taking a major step toward that goal, one fraught with therapeutic potential and ethical questions, scientists have now accurately predicted almost the whole genome of an unborn child by sequencing DNA from the mother's blood and DNA from the father's saliva (abstract)."
Odd (Score:2)
I don't see how this is possible, given that genetic recombination happens. Unless the parents are very genetically similar (ick), there should be billions of possibilities.
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I think this is the relevant part of the article: "In most cases, for a particular genetic sequence on a specific chromosome, the variants from each pair should be represented equally in the woman's blood. But in an expectant woman, whose child has received only one variant as part of its genetic inheritance, her blood will contain a little more of that variant because of the free-floating fetal DNA. If the mother's patterns of genetic variants, or haplotypes, are known, statistics allow researchers to conc
Re:Odd (Score:5, Informative)
Without the father's sequence, the confidence in the sequencing probably goes down, but is still possible.
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It is possible to get embryonic cells and DNA from the mother's blood, but isolating it so it is free from contamination for a clean sequence is difficult. The technology is already being used in an array-based assay to detect Down Syndrome and a few others. See here [sequenom.com].
That page doesn't say much, but the confidence intervals are already on par with the risk factors for an amino, which means the amino is on the way out. Sequence data would be better, having the father's genome might help, but regardless of
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I don't see how this is possible, given that genetic recombination happens. Unless the parents are very genetically similar (ick), there should be billions of possibilities.
This problem is my area of research (didn't RTFA, just assuming this is how they did it). There is cell free fetal DNA circulating in mothers and the challenge is isolating enough of it for deep sequencing without contamination from mom. I'm assuming they are using dad's DNA to help 'choose' between competing reads to figure out which ones are mom and which ones are fetal in origin. A less sophisticated version of this approach has been used to test for TS21 (Down's syndrome).
Wait, what? (Score:1)
This problem is my area of research (didn't RTFA, just assuming this is how they did it).
Am I the only one who thinks this is kind of amusing?
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This problem is my area of research (didn't RTFA, just assuming this is how they did it).
Am I the only one who thinks this is kind of amusing?
Amusing and also kinda sad. At the least the poster deduced things correctly, I guess ...
Wonder if this is the first time someone's discovered they've been scooped by reading /.??
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TFA's Scientist's take on Gattaca problem (Score:2)
"I don't think it would be ethical to use this to screen for late-onset diseases like Alzheimer's or cardiovascular diseases, for example."
To which I have to say, "No shit, Sherlock".
Let's hope those ethical concerns have some weight when this process rolls out as a voluntary, or perhaps even mandatory, screening process.
Re:TFA's Scientist's take on Gattaca problem (Score:4, Insightful)
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For sure.
I mean, I would nave absolutely NO problem with wanting to terminate the pregnancy if I found out the kid was going to be retarded, or crippled....anything that would keep it from starting out with a 'normal' childhood. In fact, I'd welcome it...I think many people might like this option, especially if you're a bit older having kids....which is happening more and more these days.
Different strokes for different folks
so who decides? (Score:3)
What about the people that terminate because it's a girl?
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Not you.
Not me.
Not government, ffs.
Social pressure. If theirs is a culture that is completely retarded in that way, let them fall on their own.
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In my experience, any ethical concerns with regards to science will be met with "How dare you try to force your morals on me? This is {for the good of the species, in the name of science, perfectly reasonable and you're a moron for questioning it}". Then there will probably be something about the mother's right to choose whether she wants to raise an "imperfect" child and it will become a big social battle.
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Forget about traditional ethical concerns, the later in onset and more multi-factorial the disease, the less informative genetics and genomics is. Even if genetic loci can explain 10% of phenotypic variation in a given cardiovascular phenotype, who cares (aside from, perhaps, a poorly run insurance company)? Any number of biochemical markers of disease are MUCH more predictive than genotype for a host of such diseases. Your BMI, your random and fasting blood glucoses all predict your risk of T2DM MUCH mo
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The informative-ness of genetics doesn't change as we age.
Source code is source code, regardless of how long the app has been running or what crappy inputs it's been fed.
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no, but the informative-ness of your medical history grows monotonically as you age.
Re:TFA's Scientist's take on Gattaca problem (Score:4, Interesting)
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I disagree with you both. I find nothing ethically wrong with abortion or screening for diseases. How about we let parents decide whether it's ethical for them?
For how long?
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I'm sorry, but I'm afraid our screening process has determined your son is going to be a huge fag.
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running with scissors will always have a greater impact than genetic blindness. there'll always be disabled communities because most of that stuff is not genetic.
Re:TFA's Scientist's take on Gattaca problem (Score:5, Insightful)
How about we let parents decide whether it's ethical for them?
Thats begging the question: Its only OK to let the parents decide whats ethical, if your stance on abortion is correct. If it isnt, your argument would be akin to "why not let the parents decide if they want to abandon their newborn".
Not trying to be flame/troll bait here (even tho I likely will be modded as such), but the entire argument from most prolifers is that the fetus is every bit as human as a newborn is. Unless you start off by assuming theyre wrong (again, begging the question), you cant just say "well, lets let the parents decide whether thats true"-- because we DONT take that stance with a baby post-birth.
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Well, I just don't care for turning women into baby-making machines and telling them they don't control their own bodies. Freedom of an already born, thinking individual > life of an unborn human leeching off of a women. For me, anyway.
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Well, I just don't care for turning women into baby-making machines and telling them they don't control their own bodies.
And that, friends, is what we call a false dichotomy.
Im fairly certain that there are a plethora of choices that dont involve an abortion-- even if you dont count the "day-after" pill.
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Im fairly certain that there are a plethora of choices that dont involve an abortion-- even if you dont count the "day-after" pill.
What? There are two choices. The woman carries the child to term or she doesn't. If a woman is pregnant, the only choice other than abortion is to carry the child to term, unless you count an unintended miscarriage as a choice, which, if unintended, it could not be. ...wait, are you thinking of that DS9 episode where Bashir transplants Keiko's baby into Kira? You know that's not real, right?
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Once she is pregnant, yes. I was talking about avoiding the pregnancy.
"There are only two options once pregnant" is no more a valid defense of abortion than "once the baby is born you either kill it or you dont" is a defense of infanticide. The fact that that infant is with you for the long haul is kind of a consequence of events set in motion long ago @ conception-- just like the pregnancy itself.
In case you want to continue to be super dense about this, I was talking about condoms, IUDs, hormone therapy
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As I said in my post, if the argument is whether adults should be able to act recklessly and disregard any future consequences, and then have some protected right to get out of those consequences...
yea, I cant agree with that. The fact that someone can act reckless and end up pregnant isnt a reason to allow abortion, and its not some violation that they have to live with the pregnancy.
In the overwhelmingly vast majority of cases, the pregnancy was preventable and predictable, and to try to turn this into s
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she can give it up for adoption.
And if she is in some remote area where such a thing is not possible? Does it become OK to kill the baby?
Killing it after it's born is literally pointless.
Its a little horrific that THATs the reason you think killing the infant is wrong.
By the way, I never once denied that it might be easier to just take proper precautions.
This isnt about easier; it may be "easier" to rob someone than to earn a decent living but the world doesnt operate by using "what is easier" as justification. The fact is that there was a choice that the mother could have made that would have prevented the pregnancy.
No, I was arguing that they should be able to control their own body.
If I go drink a liter of whiskey, I dont have some "fre
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never heard of adoption?
you'd better have a long and serious talk with your parents. you may want to be sitting down.
really, adoption is always left out of these arguments. back in the day it was the only option - the girl "goes on holiday", or "goes to boarding school" and returns a few months later.
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How about we let parents decide whether it's ethical for them?
Thats begging the question: Its only OK to let the parents decide whats ethical, if your stance on abortion is correct. If it isnt, your argument would be akin to "why not let the parents decide if they want to abandon their newborn".
Not trying to be flame/troll bait here (even tho I likely will be modded as such), but the entire argument from most prolifers is that the fetus is every bit as human as a newborn is. Unless you start off by assuming theyre wrong (again, begging the question), you cant just say "well, lets let the parents decide whether thats true"-- because we DONT take that stance with a baby post-birth.
Actually we do let parents give up the baby post-birth... it's called adoption. Granted, that's not "abandoning their newborn" in the leave it on a doorstep or in a dumpster sense, but they do have a legal option to get rid of the kid post-birth.
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Actually we do let parents give up the baby post-birth... it's called adoption.
Which has nothing to do with my post, the discussion, or anything else. The point isnt whether adoption is viable, but whether "let people decide for themselves morality regarding killing an infant" is a viable argument.
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You didn't say kill, you said abandon.
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In the sense he meant it, "Abandon" means; To leave exposed and uncared for alone. In such a situation, a newborn would almost certainly die, given enough time without being discovered by someone willing to care for the child. There is a reason child abandonment laws exist, and why they are held to the same punishment level (in some cases) as manslaughter or murder. [uslegal.com]
Personally, I find it abhorrent that we will blithely slaughter a human just because they haven't yet fully exited the birth canal.
That said,
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If you want to find something fascinating, find it fascinating the way the community responds to these discussions. The very fallacies I pointed out continue to be trotted out in this very discussion, and thats not uncommon. People will continue to focus on "woman's rights" in a discussion primarily about whether or not the thing being killed has a right to live-- as if we would EVER talk about Jack the Ripper's right to choose to kill, but somehow its DIFFERENT when the human in question is inside anothe
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People will continue to focus on "woman's rights" in a discussion primarily about whether or not the thing being killed has a right to live
Some people feel a women should have a right to control her own body more than the infant should have a right to stick around in her womb. It's mere preference.
If you could somehow remove the baby and keep it alive, I wouldn't have a problem with that. Just as long as the mother can remove it.
as if we would EVER talk about Jack the Ripper's right to choose to kill, but somehow its DIFFERENT when the human in question is inside another's womb.
And to them, it may very well be different. In fact, it is different, because it is a different situation. It's just your own opinion that the differences are irrelevant (assuming that's your opinion). If you're lookin
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I mean that if you look at the posts in the thread, I bemoaned begging the question; one of my respondants promptly begged the question, and was modded +5 insightful. I then pointed out how he utterly missed my point and was modded, of all things, Offtopic (certainly if I was off topic, then so was he?)
You will see similar things with DRM discussions, or anything else that slashdot has an allergy to. Get too pointed in your criticisms, and all the wierdest moderation begins to happen-- only so long as the
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Give a mother of a newborn an option to be free of this thing that dominates so much of her time other than infanticide. I see no difference. Somehow the discussion of a "woman's right to abandon this dependent leech" doesnt come up so much.
Re:TFA's Scientist's take on Gattaca problem (Score:5, Insightful)
Thats begging the question
Stop right there. No it's not. I'll let you ask your question anyway, but it's going to be a strawman argument.
your argument would be akin to "why not let the parents decide if they want to abandon their newborn".
Called it! That's a strawman. We're not talking about a newborn, we're talking about an embryo. Everyone agrees that a newborn has rights, there is no consensus as to whether an embryo does. Furthermore, a newborn is not an obligate dependent on one specific person, newborns can be dropped off at any safe baby haven or given up for adoption. There's no similar alternative for pregnant women.
My point here is that this is a totally separate issue from abandoning a newborn.
Answering your point, no, I don't think letting the parents decide whether abortion is right or not for them is only ethical if we assume life does not begin at conception. In most countries, most ethical decisions are left up to the individual. There's no law that says I can't cheat on my wife, it's up to me to decide if I think that's ethical or want to do that. Lacking a law against adultery is not an unethical situation, it simply leaves the responsibility up to the individual.
Legalizing abortion doesn't endorse abortion, it only leaves the ethical question up to the people who deserve to make the choice: the parents.
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Called it! That's a strawman. We're not talking about a newborn, we're talking about an embryo.
And you just demonstrated, again, begging the question.
What is begging the question? Why, its the fallacy of beginning your argument by assuming the thing to be argued. And what did you just do, in an argument that is basically about whether or not an embryo is a human? Why, you started with the assumption that it isnt.
If you were to take anything from this, its that in future discussions you should to argue your point, not assume it.
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Legalizing abortion doesn't endorse abortion, it only leaves the ethical question up to the people who deserve to make the choice: the parents.
Exactly. I'm not so sure why an eager parent, on finding out their "unborn child" has no chance of any cognition but 100% chance of multiple gruesome surgeries, can't decide to abort as a parenting decision. Christ, we let parents opt out from leukemia treatment for their walking, talking kids. Anybody that's willing to say a prospective parent can't be trus
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Glad you've got the final say on what is and isn't human enough to kill and not some misogynist Bedouin or sheet wearing redneck. That could get morally messy, since every other time in history someone decided to use any sort of qualitative factor to determine humanity has worked out so well..
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Glad you've got the final say on what is and isn't human enough to kill and not some misogynist Bedouin or sheet wearing redneck.
I'd say it's better than someone declaring that women don't control their own bodies, quite possibly forcing them to risk getting abortions from shady characters utilizing coat hangers. Like it or not, that's what happened often in the past. Then you lose both the woman and the baby all because someone decided that free-thinking, independent human beings don't actually own their own bodies.
since every other time in history someone decided to use any sort of qualitative factor to determine humanity has worked out so well..
Society certainly doesn't seem to be breaking down because of abortions. I really don't see how that'd happen.
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Funny. Your well-reasoned direct response to a +5 Insightful is modded Off-topic. There isn't a -1 Disagree, so I guess it's more that even disagreeing puts you off-topic with regards to the topic of agreeing to the parent post.
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it's one of having to take basic stances and then argue from them
Thats fair enough-- Im just arguing against trying to make a cop-out argument that "it doesnt matter what you or I think, its what he thinks"-- because THAT IS begging the question. Arguing about the issue itself is fine, but the whole "im for letting OTHERs make their own choice" is so disingenuous its not funny.
Its one of the reasons the whole "pro-life" vs "pro-choice" nomenclature is so messed up-- its begging the question, false dichotomy, and misdirection all rolled into one awful bundle.
Would not work (Score:1)
People are flawed. Left to their own passions, they will murder, rape, kidnap and steal.
People need laws to stop them from descending into savagery.
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I disagree with you both. I find nothing ethically wrong with abortion or screening for diseases. How about we let parents decide whether it's ethical for them?
Then how about your insurance company gives you breaks on your premiums if you ONLY bring the most genetically suitable offspring to full term (or your government gives you tax breaks if the government is the insurer)?
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With as many folks as we have in the US that are very, very, very against abortion, I am interested as to what you believe a screening process would accomplish. The only things that I can see are (a) higher insurance premiums - in which case, this is going to be a hard sell to even the lowest common denominator, (b) to abort the fetus before the issues arise - but GOD made my child be born without arms, so let it be born, or (c) for shits and giggles - and that's just confusing.
So, what would the uses of a
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when this sort of thing comes up, it's good to remember that practically every kind of screening is voluntary.
hell, people still opt out of finding out the sex of the baby (though in my case it was a surprise anyway - expected a daughter, got a son).
when things like this start becoming mandatory, we'll have already been too far gone as a society for a long time.
They made a movie about this... (Score:2)
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Yes in Gattaca you could tell the genetics of your unborn child, but you could also do genetic engineering on the unborn child in Gattaca and it was that portion that had more to do with the plot.
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Yes in Gattaca you could tell the genetics of your unborn child, but you could also do genetic engineering on the unborn child in Gattaca and it was that portion that had more to do with the plot.
What fucking genetic engineering on the unborn child did you see? They clearly showed that children were selected from a number of fertlized eggs while the rest of the embryos were discarded.
I'm assuming you didn't actually see Gattaca but another movie, and are confusing the two.
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I guess that depends on how you view the 'engineering'.
No modifications were made to fertilized eggs, iirc.
But let's say you have 8 fertilized eggs, but only the desire for 1 child - then isn't picking one of those 8 that meets your 'demands' tantamount to engineering?
What if you don't pick any of the 8, and instead fertilize 8 more, and again, and again, until you hit the result you were hoping for?
This is at the core of much of the debate on genetic engineering, in that some genetic modifications are simp
Re:They made a movie about this... (Score:5, Informative)
Now you appreciate I can only work with the raw material I have at my disposal but for a little extra...I could also attempt to insert sequences associated with enhanced mathematical or musical ability.
Emphasis mine.
Mod AC Informative? (Score:2)
You're absolutely right, AC.
I don't know why somebody quoted the script, considering a script is not necessarily a director's final vision of the story. I guess one could consider it a parallel universe version in which those scenes are left in; I believe the scenes were shot and ended up on the cutting room floor, based on the doctor's mouth moving without any speech - if the scene were to end there, it would have been more natural for the shot to end on a mouth closed pose.
Those looking for confirmation
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Now you appreciate I can only work with the raw material I have at my disposal but for a little extra...I could also attempt to insert sequences associated with enhanced mathematical or musical ability.
It was only a single sentence so you probably just missed it.
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Also, call me a technophile, but I don't think the problem with Gattaca's dystopia was that sequencing was possible. I think the problem was how people used the technology. Much like, oh, every technology ever invented.
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'KHAAAAAAAAAAAAAAAAAAN!'
They're also a few steps away from this.
still too early, but... (Score:1)
James Watson had 20-some unrealized defects (Score:2)
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Don't be too sure about that latter part. Once insurance companies feel that they have a method to screen for a demographic subgroup that doesn't violate civil rights they'll be happy to define it and use it, especially if investigation of that group yields viable statistics. That doesn't mean that every member of that group, especially a genetically-defined group, will manifest the traits associated wit
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What about genomic testing before marriage/mating? (Score:2)
Reading this, since they took the dna from blood and saliva, not from the fetus, it raised the question for me, why wait until conception?
In the future, will couples get genetically screened during pre-marital counseling, to see if they have good compatibility (in terms of not having high risk of genetic problems in offspring)? Sounds terribly un-romantic, doesn't it?
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the future is now? if you have the money to get tested.
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I imagine that artificial wombs will be invented long before the government gets into the child making business.
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How could they not resist such power and control?
What you wrote here does not make sense.
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yes.... There is a 100% chance that it will be law in the US in the next 30 years. Go ahead and add in the predictors for aggression and aversion to authority and you have the perfect country of slaves for our 400 masters. It will look something like this only slightly updated... http://www.youtube.com/watch?v=1i6ozLpNr3Q [youtube.com]
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Per TFA, the fetus' DNA is in its mom's blood. So you cannot get any (non-random) information prior to conception.
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In the future, will couples get genetically screened during pre-marital counseling, to see if they have good compatibility (in terms of not having high risk of genetic problems in offspring)?
Commonly done now, for Ashkenazi Jews to check for certain endemic problems (Cystic Fibrosa, I think), and it was certainly discussed for Sickle Cell Anemia.
Sounds terribly un-romantic, doesn't it?
No more unromantic than making up a pre-nup. Marriage contracts used to be common for guildsmen, let alone nobility. And, at 40+% divorce rate, maybe "romantic" is a tad over-rated.
Let me be the first one to say it: (Score:5, Insightful)
"Gattaca" wasn't fiction - it was an accurate prediction of a dystopian, fast-approaching and very real future.
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The only thing from Gattaca that seems close is the technology, society is still very far from that.
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"Gattaca" wasn't fiction - it was an accurate prediction of a dystopian, fast-approaching and very real future.
You misspelled "Idiocracy"
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Fapping to visions of dystopia is delectable, but humans have been breeding selectively by preference as long as we've existed.
BTW if undesirables never make it to term by parental choice than no ones rights are violated or infringed. If you are choosing to produce offspring, why not have more granular control of outcomes?
The world has enough window-lickers as it is.
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Emphasis mine.
And just who determines who is undesirable? The parents? Why? Why do they get to determine the relative worth of a human being they haven't even met yet? And what traits make someone undesirable? Physical disability? Does having a less than perfect body make you worth less? Hellen Keller would
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leads to two classes (Score:2)
those that can pay for optimization, and those that can't. The gulf between the two gets ever-wider.
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Eugenics (Score:5, Interesting)
What if you could read much of your child's medical future while it was still in the womb?
The more worrying question here in the U.S. is, "What if your insurance company could decide your child's medical access while it was still in the womb, based on poorly-understood genetic risk factors and eugenics pseudoscience?"
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Well since genetics is hereditary we do not really have to sequence the babies genes to know its medical future.
don't vote GOP as that will be what insurance (Score:2)
don't vote GOP as that will be what insurance will be like.
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And don't vote DEM as they will simply have an unelected and unanswerable Health Control board do exactly the same thing, with the threat of legal fines or imprisonment to back them up.
Of course, if Insurance companies try, you can always get laws passed that prevent it. Insurance companies can't toss you in Gitmo for ignoring them. If the government does it you are pretty much out of luck.
I'll stick with Conservative/Libertarians, thanks.
My WTF, explained (Score:5, Informative)
What's decidedly unclear from the summary: they're sequencing fetal cells found in the mother's blood. It was separated from the mother's own blood cells with a nify trick using the father's DNA.
So it allows them to sequence the baby's type without having to touch the infant itself. They're not making any "mother+father=baby" predictions before the baby is conceived, which would be impossible just from their ordinary (somatic) cells.
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What's decidedly unclear from the summary: they're sequencing fetal cells found in the mother's blood. It was separated from the mother's own blood cells with a nify trick using the father's DNA.
What if the man the woman says is the father is not the father?
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Then it ain't gonna work, I imagine.
Accurately predicted ...almost ... (Score:2)
Was the mother or father possibly driving.... (Score:1)
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I'm pretty sure you are the only one, and I'm pretty sure you've got issues, bro.
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There's a difference between an orange seed and a sprouted orange seed. And plant life doesn't have a distinct stage called birth. If murdering a tree is illegal (let's assume), when does killing that orange plant become murder?
Birth is a relatively arbitrary point to consider in a lot of ways.