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June 7th, 2012
05:24 PM ET

Baby's DNA constructed before birth

Mom gave a blood sample. Dad spit. The entire genome of their fetus was born.

Researchers at the University of Washington have, for the first time, done a near-total genome sequence of a fetus in this way.  Scientists published the results of this study in the journal Science Translational Medicine, suggesting that thousands of genetic diseases could be detected in children while they are still in the fetal stage.

Everyone has two copies of the human genome: One inherited from their biological mother and one from the biological father. With technology that's being used for genetic sequencing these days, it's not possible to say which variants on the chromosome you inherited from which parent.

Scientists also sequenced the cell-free component of the mother's blood - called the plasma - where about 10% of the DNA circulating is from the child, and the other 90% is from the mother. That introduces some difficulty, since it's hard to tell exactly what comes from the child.

Currently at least some component of diagnosis for genetic disorders in certain circumstances is done using technologies such as amniocentesis, which involves taking a sample of the fluid in the sac that surrounds the fetus in the womb – the mother has to have a needle inserted into her uterus, which is a lot more complicated than a simple blood test and carries some health risks.

"This might reduce the need to do invasive testing for fetuses," said Jay Shendure, associate professor of genome sciences at the University of Washington.

The focus of the study was the genome of a fetus whose mother's blood sample was taken at 18 weeks. The analysis of her blood, the father's saliva and the plasma contributed to a nearly full picture of the fetus's genome.  This model showed that the fetus had 39 mutations that it had not inherited from either parent.

To confirm, researchers looked at the baby's umbilical cord blood after it was born. In comparing the constructed DNA (from mom & dad's samples) and this cord sample,  researchers found five additional mutations that hadn't come from the mother or the father.  On the whole, the baby's artificially constructed genome using material from the parents was more than 98% accurate.

Researchers repeated the procedure on a different couple. This time the mother was only eight weeks pregnant when she donated her sample, and the father submitted a blood sample, which was processed in the same way that the other father's saliva was. This resulted in a fetal genome sequence that was 92% accurate.

"We could have brought it higher just by sequencing her plasma more deeply," said Jacob Kitzman, lead study author and graduate research fellow at the University of Washington.

There are also parts of the genome that technology available today just cannot measure very well, Kitzman says, so that's partly why there's not a 100% accuracy here.

Is gender selection of a fetus ethical?

Eight weeks are, however, well before mothers are able to get amniocentesis, which is often used at around 16 weeks.

It took more than a month to get the results from the sequencing, which is a lot longer than would be ideal in a clinical situation, Kitzman noted. In order to become more widespread, the technique would have to be easier to administer, quicker and less expensive.

So how much does this cost? Right now, in the ballpark of $50,000, Shendure says - and while that seems like a lot, keep in mind that this whole process involved sequencing the genomes of the mother and the father, separately analyzing the plasma and then double-checking the result with a sequence from the child's umbilical cord.

The price tag for sequencing has dropped by 10,000 fold in the last five years, Shendure says, so he expects this fetal genome technique will also become less expensive over time.

In the long-term, the technique may even help garner new insights about genetic diseases, but more immediately it would be restricted to identifying the genetic disorders that we already understand, he said.

"Whether this is the sort of thing we would do on a widespread basis for all pregnancies, that’s an open question and a complex one," he said.

The complexity comes, of course, from the ethical issues that arise concerning parents who would selectively abort fetuses that are predestined for certain conditions.

The technology worries medical ethicist Harriet Washington, who fears parents could use genome sequencing to predict and selectively abort children that don't meet certain standards - not just for diseases, but for things like hair and eye color.

“If we don’t look at the dangers, if we adopt this Pollyanna attitude and only look at the benefits, then it’s really easy to end up in a situation where we are blindsided,” Washington said.

Perhaps one day, even intelligence scores or skills could be forecasted, creating a situation akin the movie "Gattaca" where babies are basically custom-created to suit the needs of parents who can afford the technology.

What do you think about all this? Share your thoughts in the comments.


soundoff (344 Responses)
  1. april

    Do we want the humen race split into two different species ? 'The haves' and 'have-nots'."

    June 8, 2012 at 07:59 | Report abuse | Reply
    • Johan S

      Does government have the right to tell a parent what genes their child can have? Government dosnt even have the power to tell a parent how the kid is going to be educated, from where dos it derive th right to tell a parent what genes the child must have?

      June 8, 2012 at 08:21 | Report abuse |
    • Heidi

      We are already split into those to categories...always have been.

      June 8, 2012 at 08:37 | Report abuse |
    • J

      Is the government involved in this or is this done through private funding?

      June 8, 2012 at 08:50 | Report abuse |
    • Ron77

      Where have you been? Welcome to 2012.

      June 8, 2012 at 09:38 | Report abuse |
    • winema

      This is a great revolutionary technology that will give hope millions of people. Here some people afraid that parents may abort fetus with severe genetic disorder, but is it better for the new born child and his family spend whole life in miserable suffering of Down, Cerebral palsy, Tay-Sachs, Huntington's, ALD, muscular dystrophy, or is it better if parents just try again and have a new healthy baby? Yes, we may lose a handicapped fetus, but then parents most likely will try again and have one or more healthy babies. Having a handicap child would probably prevent them from having more children, so we are actually saving lives of the fetus siblings. Also parents who have genetic disorders now are very likely to remain childless, because they afraid that child will inherit their condition, but with this technology we give them hope, so they can try to have a healthy child. So again, we are saving healthy child life by telling parents if he has genetic problem or not.
      Government should support and fund this research, instead of force the parents and the children into misery.

      June 8, 2012 at 19:45 | Report abuse |
  2. libby

    yay for genetically modified children. Brave New World, here we come!!

    June 8, 2012 at 08:02 | Report abuse | Reply
    • Marlena

      Yes, indeed. This article gave me chills.

      June 8, 2012 at 08:50 | Report abuse |
    • Bill The Cat

      KAAAAAAAAAAAHHHHHNNNNNNNNNN!!!!!!!!!!!

      June 8, 2012 at 09:28 | Report abuse |
    • PandoraDoggl

      I'm so glad I'm a Beta... Alphas have to work so hard, after all, and well, you know, Gammas just don't live as well... it really is best to be a Beta.

      June 8, 2012 at 10:22 | Report abuse |
    • Daws

      What gives me chills is the thought of having your baby born with a genetic disease like tay-sachs. Good for this, I fully welcome GMOs in this case. People need to get over the fact that nature doesn't make everything perfect. People against fixing or preventing genetic disease may as well be Christian scientists denying their child cancer treatment IMO.

      June 8, 2012 at 20:11 | Report abuse |
    • want2believe

      "genetically modified children"

      There was no modification. Reading comprehension. If the science was above your head, go research it further so you don't look ignorant.

      June 10, 2012 at 15:17 | Report abuse |
  3. James

    Ah, designer babies, where all children will look and act alike.
    As for things like gender selection, take a look at China. They proved that didn't work too well.

    June 8, 2012 at 08:04 | Report abuse | Reply
    • DRSmith

      The human race has survived for approximately 10,000 years without being able to diagnose or predict gender, predisposition to specific disorders and diseases, intelligence, and many other factors. Why the fascination with doing so now?

      June 8, 2012 at 16:39 | Report abuse |
    • Robairdo

      @drsmith the human race has been around a lot longer then 10,000 years at least 150K years in its current form.

      June 8, 2012 at 17:04 | Report abuse |
    • winema

      I did a study on gender selection. First of all there always a little more boys born then girls in all nations at all times. In China the gender selection only about gives a 3% more boys then girls now. I other Asian countries like South Korea there was a little rise like this when Ultrasound gender prediction become available, but as the country turning more modern in the woman role, the gender selection went sharply down, so now there is no such problem in South Korea anymore. I think in China the gender selection also went down as woman status in society rises.

      June 8, 2012 at 19:56 | Report abuse |
    • Nigel Thornberry

      this artical is SMASHING

      December 12, 2013 at 15:35 | Report abuse |
  4. Sergio

    Get ready for Human 2.0. We will survive and we will improve our genome with science and YES there will be a new race of humans who will be the next step of evolution and it will be ushered in not by nature but by mans science.

    June 8, 2012 at 08:18 | Report abuse | Reply
    • henne

      Uh oh – here we go again. This was attempted before by different means in the Third Reich through 'selective breeding'. It's not nice to fool Mother Nature.

      June 8, 2012 at 08:35 | Report abuse |
    • Sergio

      Hitler tried to set the stage by force and war. This will happen in a different manner. Parents will want a perfect baby. Especially if their genome may have breast cancer or the common genetic problems.

      June 8, 2012 at 08:49 | Report abuse |
    • Sergio

      Dont forget the militarty applications. A soldier that lactic acid doesnt build up, more stamina more strength etc, less pain etc...

      June 8, 2012 at 08:57 | Report abuse |
  5. Heidi

    April – the world is already divided into the "Haves" and "Have Nots"...

    June 8, 2012 at 08:36 | Report abuse | Reply
  6. fekt

    as long as i'm allowed to clone myself for spare parts or somehow download my brain into the new body. i'd be all for that.

    June 8, 2012 at 08:42 | Report abuse | Reply
  7. Dino

    They had to ban sex selective abortions in India in the 90s. They still do it anyways. If it gets out of control the ratio of males far exceeds females. I'm not sure what forces of nature tend to keep female/male ratios so close to 50/50 when we don't abort but if parents know about IQ or other genetic factors then they are bound to know the sex of a baby too.

    June 8, 2012 at 08:54 | Report abuse | Reply
  8. LockandKey

    Gattaca anyone?????????

    June 8, 2012 at 09:15 | Report abuse | Reply
  9. AndriconBoy

    I’m a little disappointed in the lack of religious nutbags making comments about the evils of science and “god” and other garbage. They always make for a good read.

    Or maybe this is just one scientific article that too greatly demonstrates that there probably isn’t a god, nor is there a need for one.

    June 8, 2012 at 09:15 | Report abuse | Reply
    • Bill The Cat

      And why should we believe you?

      June 8, 2012 at 09:29 | Report abuse |
    • AndriconBoy

      Your response is one indicating that you're one of the religious types I was speaking about, so the better question being – Why should I believe you? You're the one making the assertion a god exists. Why is one fairy tale any more plausible than another? I'm still waiting on demonstrable evidence.

      June 8, 2012 at 10:06 | Report abuse |
    • maestra730

      "Demonstrable evidence"? Where's yours?

      June 8, 2012 at 10:14 | Report abuse |
    • AndriconBoy

      Where my evidence about what? Something not existing? lol
      Are you really that stupid?

      June 8, 2012 at 10:22 | Report abuse |
    • KyleB68

      He does not need to demonstrate evidence he’s not taking the positive position that something exists when there is no proof it does. If that is how you want to argue then magical purple 9 headed donkeys that breath fire also exist because you can’t prove they don’t.

      June 8, 2012 at 10:39 | Report abuse |
  10. Ethics Board

    Meh, if a couple chooses to abort an embryo, that's their choice, no one elses. Plenty of people won't "sex" select, so it won't be an issue. As for detecting genetic disorders, this is very important for some. If I knew my unborn child was going to have some horrible, terminal condition early in life, I don't think I would want to put them or my family through that.... its not fair to anyone involved. Others may feel differently, but that's their choice.

    June 8, 2012 at 09:16 | Report abuse | Reply
    • WhatNow

      I agree. Why create suffering?

      June 8, 2012 at 09:28 | Report abuse |
    • Bill The Cat

      Why is it not also the embryo's fault? As seen in the article, it is a unique life form with a distinct dna sequence. Biology calls that an individual in the species.

      June 8, 2012 at 09:31 | Report abuse |
    • Bill The Cat

      I meant the embryo's choice.

      June 8, 2012 at 09:31 | Report abuse |
    • JenLaw

      The living can not obliterate suffering for others. That is life, folks. The genome is not perfect, never will be. We can say we give life and we take it away, but we shouldn't. Otherwise, yeah, Gattaca.

      June 8, 2012 at 10:48 | Report abuse |
    • AndriconBoy

      Bill.

      Each of us has “unique” DNA, randomized by chance, heredity, gestational conditions, etc. Having arranged DNA doesn’t make you a new species any more than the random arrangement that occurs naturally. It's still human DNA. Not nimatode, not amphibian – human.
      To subscribe to your point is like saying each human is its own “unique” species because we all have distinctly arranged DNA. And yet there are billions and billions of us, all vastly more similar than we could ever possibly be dissimilar by any natural means.

      Humans, like snowflakes, may each be unique, but that hardly makes us special. We’re just a random arrangement of amino acids.

      June 8, 2012 at 10:50 | Report abuse |
    • ElaineV

      life's not "fair", get over it... Who gets to decide what condition or disorder is bad enough to warrant selecting death? How awful. You can call it whatever you want, but killing someone (aka terminating a pregnancy) just because they have a health issue, is wrong.

      June 10, 2012 at 23:07 | Report abuse |
    • Get Real

      I wish you anti-abortion fanatics would figure out that aborting a fetus is not "killing". You can't kill something that is not yet a lliving being. It is an embryo. Take a biology class and maybe you'lll learn the difference. Just because something will become something else after 9 months' time does not mean it should be thought of that thing already. Would you pay $300,000 for the blueprints to a house? Would you go to the store for a tree and pay the same amount for a seed if they were out of stock? Seriously, you need to examine your logic–or lack thereof.

      December 31, 2012 at 00:53 | Report abuse |
  11. RM13

    Everyone needs to calm down a bit. this article has a misleading headline and a misleading conclusion. All they did was sequence the genes..not construct them. It is nothing more than a check for genetic diseases that is more accurate and less invasive than amnio. It is just knowledge, people need to stop being afraid of knowledge.

    June 8, 2012 at 09:28 | Report abuse | Reply
    • dx2718

      Amen on not being afraid of knowledge! However, there is generally an ethical concern with selective abortion. There's some theory that even undesirable traits have survived in the population because they have some benefit to some people. For example, one sickle cell anemia gene provides immunity from malaria, whereas two provides sickle cell anemia. If we selectively abort all fetuses with undesirable traits, we may eliminate potentially useful genes from the gene pool. There is also the theory that technology is fueled by need, and that technology created to help people with disabilities could be useful in other contexts but wouldn't be developed at all if it weren't for the existence of the disabled people (yes, there was an episode of Star Trek: The Next Generation about this issue).

      June 10, 2012 at 03:37 | Report abuse |
  12. GenomicsGuy

    Although 98% of a correct sequence sounds like a great accomplishment, we share better than 99.5% of our genetic sequence with chimps, and somewhere in the 68-72% with orchid flowers, so a 98% accuracy reading does not seem like a great way to determine potential genetic disorders. On top of that as it states shortly above, you would not be able to tell which Chromosome is the active one, whether it is the Father's or Mother's, and you wouldn't be able to tell where the Chromosomes form their Chyasma and actually cross genetic information. All this to say that as advanced as we are, we still cannot say if your child will have a genetic disorder that is not a chromosomal difference (See Down's Syndrome).

    June 8, 2012 at 09:35 | Report abuse | Reply
    • Nancy

      Thanks, GenomicsGuy, for providing some knowledgeable perspective sorely needed.

      June 8, 2012 at 09:55 | Report abuse |
    • Jason

      I don't think that they're saying the 98% is in reference to base calling across the whole genome – they had a subset of heterozygous loci they were examining – so presumably if they had adequate whole-genome coverage, the fraction would be higher. According to the paper, they had 40x coverage from the cord blood, so that's probably enough to make some conclusions.

      June 8, 2012 at 10:45 | Report abuse |
    • Genetics Major

      @GenomicsGuy: "and you wouldn't be able to tell where the Chromosomes form their Chyasma and actually cross genetic information. All this to say that as advanced as we are, we still cannot say if your child will have a genetic disorder that is not a chromosomal difference (See Down's Syndrome)."

      First, crossing over takes place between the two chromosomes of the grandparents within a single parent, when the gametes are formed. So you WOULD be able to detect crossovers just by comparing the fetus's sequence from that parent to both copies of the parent's own genes in the same region. Though, I must say, I don't see what relevance that has anyway.

      Secondly, there are many disorders that are detected at the gene or even base-pair level. We are not confined to chromosomal disorders. It is true, of course, that this test has the most applicability to trisomy disorders.

      But it's foreseeable that you could be heterozygous for a genetic disease that never manifested in you, due to your peculiar genetic background, but would nonetheless have a high probability of manifesting in your offspring, if that was the copy that you passed them. In that case, many people would not want to take the 50% (or greater) chance that the defect would manifest in their offspring; they would choose to abort. This test would give them the ability to do so much earlier–currently at 12-16 weeks, and perhaps earlier as the test becomes more streamlined. And this would be a much-appreciated advantage for people in high-risk categories wishing to try again. Aborting early is much easier than aborting later.

      Lastly, this test would allow you to detect mutations that were not present in either parent, called "de-novo" mutations. These would include mutations at the gene level, not just the chromosome level.

      December 31, 2012 at 01:51 | Report abuse |
  13. Mike

    Agreed Genomics guy. 98% may sound well and good, but that last 2% could hold so much information and could change the entire story of what is going on with the fetus. Considering the billions of base pairs in DNA, missing 2% of them is tremendous. They will need to vastly improve the technology before they start making life and death decisions based on this testing.

    June 8, 2012 at 09:54 | Report abuse | Reply
    • Genetics Major

      The purpose of the test is to detect abnormalities, not verify perfection. It's not perfect, but knowing that 98% of the genome is okay is a heck of a lot better than knowing nothing at all. I'll take 98% over nothing any day. I think most logical people would.

      December 31, 2012 at 01:56 | Report abuse |
  14. Scott Pilgrim

    This sounds like a dystopian novel I had to read back in high school called "Brave New World." While it does have scientific value in helping prevent or cure disease, you don't think that people who are corrupt and have money won't just manipulate this to design their own kid? Frankenstein teaches us a good lesson about trying to manipulate the forces of nature too much. Not saying that I think they should shut this down, but it has the potential to be much less of a noble cause than they're letting on.

    June 8, 2012 at 10:06 | Report abuse | Reply
    • JenLaw

      Scott, where's the Vegan? (laughing!)

      June 8, 2012 at 10:51 | Report abuse |
    • dx2718

      It would take quite a while to make a designer kid using this technology, given that the only possible action is to abort and start over. Probably the time it would take to conceive, test, abort, conceive, test, abort, etc. until you get your "designer" kid would be way more time than anyone is fertile, or maybe even alive.

      June 10, 2012 at 03:40 | Report abuse |
    • Genetics Major

      If a designer kid is what you want, that could be done the first time through–on a computer. We have the ability now to assemble base pairs in precisely the order specified. But this article is not about that. It's about detecting abnormalities in a fetus much earlier than you would be able to do with an amniosyntesis, and with much less risk (almost zero) to the fetus if it does happen to be healthy, as the vast majority are.

      December 31, 2012 at 02:02 | Report abuse |
  15. paby4

    Reblogged this on paby4.

    June 8, 2012 at 10:07 | Report abuse | Reply
  16. Duh

    Evolving right back out of the gene-pool.

    June 8, 2012 at 10:20 | Report abuse | Reply
  17. paby4

    I agree with a previous post by RM13.
    We all need to calm down and think about this. This article is about gaining knowledge, not making life or death decisions about someone's children. This is a great advancement in helping parents prepare themselves emotionally, spiritually, and most of all, financially. This is an advancement in screening for genetic defects and illnesses at this point. It is not suggesting creating designer babies, on the one hand, or aborting gender specific babies.
    This kind of testing is a giant step forward and not invasive like amniocentesis which carries risks to the baby and mother. I believe most parents posses "unconditional love" for their children and want the best for them. By knowing the expected financial burdens posed by various genetic defects, the parents are able to responsibly plan their finances and life's basic needs around the needs of that child. Knowledge and planning for a child can only be a good thing. Most parents are very responsible and want the best for their progeny. "Enlightened" parents are far better able to care for a child with genetic defects. It's the science like this that allows people to the enlightened. If you look hard enough you will always find a few "bad apples" in your life's journey. But, I ask, "Do you really want to hide in the DARK due to a fear of the UNKNOWN?" Live in the LIGHT, with KNOWLEDGE, and GROW and LEARN. Do not be afraid!!!

    June 8, 2012 at 10:37 | Report abuse | Reply
  18. Ana

    I agree with those who say that this sounds like something from a dystopian novel. And it gives the idea as if children whose genes have not been 'engineered' in this way are somehow less, and could lead to parents rejecting their children if they are not deemed as "perfect" as they had wished.

    June 8, 2012 at 10:48 | Report abuse | Reply
    • Chelle

      The other potential dystopian movie nightmare is the one where children who are made this way aren't considered as human as non-mutant children.

      Alternatively, what if, either through selective breeding/aborting or some other means, we figured out how to do something with genes that effectively made people with abilities naturally arranged people don't have? I dunno if there's a gene for line-of-site teleportation or levitating or anything like that, and it's extremely implausible, but since we're all using works of fiction as our primary source of ideas for the potential ways this all *could* go wrong, why leave out the comic books?

      July 3, 2012 at 14:41 | Report abuse |
  19. Mayfair

    We knew this technology was coming and we're going to have to prepare for it. However, no matter how strictly it may be regulated in the future, there will be black markets. SciFi movies have played on our worst fears about the potential for abuse of the technology rather than hilighting its potential benefits.

    Unless you are a parent of a child born only to die a slow and painful death from diseases such as Tay-Sachs, Huntington's, ALD, muscular dystrophy,cancer, etc,. you can't begin to understand how important this technology could be. Not all parents would avail themselves of it but the choice would be possible.

    Yes, there will be abuse and corruption – it's a trade-off for something that could be so life-changing for human kind.

    June 8, 2012 at 10:49 | Report abuse | Reply
    • JeramieH

      Thank you Mayfair. People always seem to assume everything is either perfectly positive or perfectly negative. Like most things in life, there will be benefits and downsides to be managed and balanced.

      June 8, 2012 at 10:59 | Report abuse |
  20. KyleB68

    So long as we are altering dna and stuff can we start making children better people then their parents? There are still too many dbags and bad drivers out there.

    June 8, 2012 at 11:05 | Report abuse | Reply
  21. medschoolkid

    Just to reassure everyone we are nowhere near altering an unborn child genetically. This is important for screening purposes. Honestly I see this whole study as expensive and impractical since the vast majority of human DNA is "junk" and doesn't do anything, A more practical approach would be developing genetic tests for certain congenital conditions.

    June 8, 2012 at 14:34 | Report abuse | Reply
    • WhatNow

      It's probably someones thesis research. I really wish they wouldn't publish this stuff for the general population.

      June 8, 2012 at 15:44 | Report abuse |
  22. MomofAngels

    I wish scientists would spend more time finding resolution for mothers who cant carry their babies full term instead of this, giving parents the opportunity to find out what is wrong with their children before their born so they have the chance to make a decision whether to keep the baby. I would do anything to have my children alive and with me. Being a mother of 3 and one who couldn't carry my babies full term and still have no answers, I wish they would spend time on helping mothers being able to keep their babies inside. I delivered my daughter at 26 weeks and im thankful she is still here today but I put two of my only sons to rest because I wasnt able to keep them inside long enough. My first son I delivered also at 26 weeks and my second son who recently passed away I only made it to 22 weeks with him. The condition I had while pregnant, there is no cure yet but delivery. Its a deadly condition on which I wish scientists would test to find a cure.

    June 8, 2012 at 14:45 | Report abuse | Reply
    • JeramieH

      You know, the world can work on more than one problem at a time.

      June 8, 2012 at 17:27 | Report abuse |
    • ATLApplePie

      I'm so sorry for your loss. Thanks for sharing. God bless.

      June 10, 2012 at 01:24 | Report abuse |
  23. Max Brooks from Florida

    I'm glad the article mentioned Gattaca because that's exactly what I was thinking while reading this.

    June 8, 2012 at 18:28 | Report abuse | Reply
  24. winema

    This is a great revolutionary technology that will give hope millions of people. Here some people afraid that parents may abort fetus with severe genetic disorder, but is it better for the new born child and his family spend whole life in miserable suffering of Down, Cerebral palsy, Tay-Sachs, Huntington's, ALD, muscular dystrophy, or is it better if parents just try again and have a new healthy baby? Yes, we may lose a handicapped fetus, but then parents most likely will try again and have one or more healthy babies. Having a handicap child would probably prevent them from having more children, so we are actually saving lives of the fetus siblings. Also parents who have genetic disorders now are very likely to remain childless, because they afraid that child will inherit their condition, but with this technology we give them hope, so they can try to have a healthy child. So again, we are saving healthy child life by telling parents if he has genetic problem or not.

    Government should support and fund this research, instead of force the parents and the children into misery.

    June 8, 2012 at 19:44 | Report abuse | Reply
  25. Daws

    The only thing here is were the parents at risk for having a child with a genetic disease? The article mentions the baby had 44 mutations, however we need to keep in mind the average for every human is about a couple dozen. Most are meaningless and harmless as a vast majority (a super-majority even, to use political terms) are simply junk DNA that doesn't make proteins nor is involved in gene regulation. If they spent 50,000 to get rid of that, they woefully wasted their money. They need to be indentifying the nature if the mutation first...and even then we may be undercutting potentially beneficial mutations later on that come about from building on earlier innocuous mutations. Don't take something out just because it's a mutation.

    June 8, 2012 at 20:20 | Report abuse | Reply
  26. blah blah

    They might be able to snip a code here or snip a code there but when it comes to making a code from scratch to create genes that results in organs and etc. they are hundreds if not a few thousand years away. They still do not know all the mechanics to a cell especially mitosis.

    June 8, 2012 at 21:03 | Report abuse | Reply
  27. choc

    As far as gender selection goes all you need to look at is the sonogram practically most every pregnant woman gets now anyway. Don't need expensive testing for genomes for that. (And after 30 years in OB/Gyn/Women's Health I have not seen a single parent abort on the basis of gender). All they are trying to do is find a way to check for problems without having to do an invasive amniocentesis - which like all invasive procedures has risks (for example of injury to mom or fetus as well as miscarriage). It blows my mind how many parents opt for "elective" c-sections. I've seen c-sectioned infants receive emergency surgery because the infants decided to move the wrong way at the wrong time when the scapel was cutting open the uterus and mom's die from hemorrhage and sepsis post-operatively. I've seen amniocentesis cause hemorrage in both mom and fetus, premature rupture, and miscarriage. I've seen an infant move the wrong way at the wrong time impale its foot completely through with the amnio needle. What if it had been its heart or another vital organ? If they can find a safer way to make the same determinations as an amniocentesis and do so cost effectively and with quick turn around of results then I'm all for it. However, there is the catch - It is neither cost effective nor does it have a quick turn around - and we are far from being technologically advanced enough to do so as yet.

    June 9, 2012 at 16:23 | Report abuse | Reply
  28. choc

    Oh...and they aren't even close to manipulating DNA here. They are simply trying to "identify" (not manipulate) and we are still a very long way off from even being able to completely tell what's what much less what each and every one of them do or do not do. The same wild, blown up, science fiction ideas, concerns, and questions of ethics were brought up when amniocentesis first came about. Most/More abortions are done as a means of birth control for unwanted pregnancy than they are done for known birth defects much less "potential" birth defects. Amniocentesis is not even done unless there are potential risk factors and the parents agree to it. And the majority of them that do opt for an amnio just want to know so that they can be prepared and learn all they need to be able to give the care required as best they can. Many of those with such risks have other relatives with Down's, etc. and elect not to even have the amnio because they intend to have it regardless and are already familiar with how to meet the child's needs.

    June 9, 2012 at 17:29 | Report abuse | Reply
    • Eiko

      While world attention is foeucssd on the human rights in other parts of Africa, One World Action is seriously concerned about the deteriorating human rights situation in Malawi. President Mutharika has imposed restrictions on freedom of speech and has accused civil society organisations of undermining the country. Civil society activists have experienced intimidation and the office of one high profile activist has allegedly been raided. This crackdown is having a major the impact on the women we work with. Should Malawi not also be considered a ‘country of concern’?

      October 11, 2012 at 19:36 | Report abuse |
  29. Mike

    Having a child who is autistic I hope 500 years fast forward we can eliminate genetic diseases.

    June 10, 2012 at 00:22 | Report abuse | Reply
  30. TG

    Human life is precious in God's eyes, so the taking of any unborn child life is an affront to him as our Maker. Under the Mosaic Law, if a person or persons even accidentally caused the death of an unborn child, the penalty was death for the offender.(Ex 21:22, 23) David wrote over 3000 years ago, that God's "eyes saw even the embryo of me, and in your book all its parts were down in writing (the DNA), as regards the days when they were formed and there was not yet one among them."(Ps 139:16)

    Here is a real life example of a 36 year old man named Joel with Down Syndrome or trisomy 21. Trisomy 21 is a congenital defect causing mental retardation. Chromosomes normally come in pairs, but babies born with trisomy have an extra chromosome on one of the pairs. Trisomy 21 affects chromosome 21.

    The parents were saddened by the pediatrician’s diagnosis of Down syndrome, who decided to consult another medical specialist. He carefully examined little Joel for nearly an hour without saying one word. Finally, the doctor looked up and said, “Your child will be very dependent on you.” Then, with kindness in his voice, he added, “But Joel will be happy because his parents love him!” Overwhelmed by emotion, the mother cradled Joel in her arms, and then both parents took him home. He was only eight weeks old.

    Further medical tests revealed that Joel also had a serious heart malformation and a severe form of rickets. Because his heart was too large, it pressed against his lungs and made him prone to infections. Before long, when he was four months old, Joel contracted bronchial pneumonia and had to return to the hospital, where he was quarantined.

    It was agonizing for the parents to see him struggle. They wished they could hold him in their arms and caress him, but for ten distressing weeks, they were not allowed to touch him at all. Both parents could do no more than watch, hold each other, and pray.

    During the first years of Joel’s life, the pediatrician often repeated to us, “Joel needs lots of love.” Every year for the first seven years of Joel’s life, they dealt with the same sequence of events. Between October and March, he suffered one health problem after another, and they had to take him back and forth to the hospital.

    However, through the years, the parents taught Joel to love our Creator, Jehovah God. At age 17, Joel symbolized his dedication to God by water baptism. Since then, his love for Jehovah God and zeal for the truth of the Bible have not diminished. In fact, to everyone he meets, Joel likes to say, “The truth is my life!”

    June 10, 2012 at 00:30 | Report abuse | Reply
  31. ATLApplePie

    This is not a Democratic or Republican issue. I happen to be a Democrat. Look at the online videos of children in the womb moving away from the cutting and suction device as their little body parts are seperated. Also see pictures of how their tiny bodies are reassembled to make sure all the body parts were removed. This is reality, not a theory. This is life ended. These are people. When I read this article I think of Theoretical Physicist, Cosmologist and Author Stephen Hawking who has ALS and communicates via voice computer. I'm sure his en utero genetic tests would have shown him to be a horrible candidate to live a full life. Because of him, we have a better understanding of the universe we live in, quantum physics and black holes. I use to be pro choice and bought into the big deception. Once I took at little bodies being ripped apart, my perspective changed.

    June 10, 2012 at 02:23 | Report abuse | Reply
    • TAK

      Your analysis is based on the assumption that the body makes the person. The body is nothing but organic material without the mind. Don't even try to tell us that a zygote or fetus has a functioning mind.

      June 10, 2012 at 14:54 | Report abuse |
    • want2believe

      And I can respect your opinion, as long as you can respect the opinions of others.

      June 10, 2012 at 15:13 | Report abuse |
  32. momto5

    I am sick of the "is it ethical" question?
    Of course I want to know my entire genome and that of my baby, as early as possible.
    I want to know EVERYTHING POSSIBLE. If we're smart enough to do this, awesome! Accuracy could improve with time...

    June 10, 2012 at 11:18 | Report abuse | Reply
    • TAK

      I agree wholeheartedly. How can anyone ever think that having less information, less knowledge, is a good thing?

      June 10, 2012 at 15:00 | Report abuse |
  33. Janie, Parish Nurse

    I have a 20 year old granddaughter who has tuberosis sclerosis with an accompanying giant cell astrocytoma (brain tumor). She has had gamma knife radiation and 4 brain surgeries. She also has a VP shunt which drains the spinal fluid that is blocked by the tumor. She will be most happy to have this information as she recently told me that she would not want to have a child who has to go through what she has gone through. On the other hand, I love this child/adult most dearly and am so glad that she is a part of my life. She is bright and happy and accepting of her lot in life. There are always 2 sides to every story. Janie

    June 12, 2012 at 14:48 | Report abuse | Reply
  34. Memoe

    5 or 6 generations with no immunizations and going strong! No deaths so far....Can you taught the same? None...Not one shot...

    June 13, 2012 at 22:25 | Report abuse | Reply
  35. Sandip

    If the mother does not use dunirg her pregnancy then the child should be fine physically. Bipolar disorder is genetic so the use of drugs by the parents will have no effect negative or positive on the development of Bipolar. However parents who abuse drugs and alcohol do not make very good parents (parents who PREVIOUSLY used drugs and alcohol are a bit better). Children are neglected and often emotionally or physically abused this can lead to the development of all sorts of disorders from personality disorders to anxiety disorders Bipolar and Schizophrenia are genetic so they will develop independent of home life. Any other mental health issue can be caused by environment. Addiction is also an inherited trait parents can pass a tendancy to be an addict to their children. Doesn't mean that the children will automatically be addicts but it means that they will be more likely to be addicts than the standard population.

    September 11, 2012 at 18:45 | Report abuse | Reply
  36. sharlene

    I HAD MANY OF THESE TESTS DONE AND ALL CAME OUT TO BE STRESSFUL AND WRONG WITH MY 10YR OLD DAUGHTER THEY KEPT RECOMENDING THE AMNIOCENTESIS I HAD 8 OF THEM DONE AND WAS NOT EVEN INFORMED OF THE MEDICAL RISK THAT HAVING SO MANY DONE COULD INVOLVE. EVERY TIME THEY CAME UP WITH A POSITIVE RESULT THAT MY DAUGHTER WOULD BE BORN WITH DOWN SYNDROME DUE TO AN RH FACTOR RESULT..IT WAS COMPLETE AND UTTER HELL.EMOTIONALLY I DISTANCED MYSELF FROM THE PREGNANCY BUT WAS DETERMINED TO TAKE CARE OF MY BABY..MY DAUGHTER WAS BORN COMPLETELY HEALTHY AT FIRST I COULDNT BELIEVE IT BECAUSE I HAD BEEN SET ON HAVING A CHILD WITH DOWN SYNDROME ALL OF THE GENETIC COUNSELING AND CLASSES JUST BECAUSE THEY WER SO SURE. IT WENT ON TO HAPPEN TO ME AGAIN WITH MY LAST BORN MY NOW 3 YR OLD HE WAS SUPPOSED TO BE BORN WITH CYSTIC FIBROSIS BECAUSE I WAS THE CARRIER OF THE GENE..THIS ONE WE PUT IN GODS HANDS AND MY NOW 3 YR OLD IS COMPLETELY HEALTHY WTH NO TRACE OF ANY GENETIC DIBILITIES.ALTHOUGH I BELIEVE IN COREECT GENECTIC TESTING FOR THE WELL BEING OF YOURSELF AND CHILD AND FAMILY DO NOT LET ANYONE DECIDE YOUR OUTCOMES.

    September 23, 2012 at 18:23 | Report abuse | Reply
  37. Jack

    I agree that this will lead to a higher abortion rate, just because the child doesn't have the DNA the parent's wanted them to have.
    This is wrong.

    December 3, 2012 at 00:03 | Report abuse | Reply
    • Jack

      But on the other hand I do agree that it can help prevent genetic diseases that inhibit the child to live life fully.

      December 3, 2012 at 00:05 | Report abuse |
  38. Ramon F Herrera

    Let's say that due to economies of scale the tests drop dramatically in price and they are covered by ObamaCare.

    In that case the "haves and have nots" is not a factor.

    December 29, 2012 at 15:25 | Report abuse | Reply
  39. Ramon F Herrera

    As the technology progresses, the results will be obtained earlier and earlier in the pregnancy. Let's say, a week after conception. Frankly, I don't have a problem stopping something at that early stage, like the morning-after pill.

    December 29, 2012 at 15:38 | Report abuse | Reply
  40. InnaXcellentx

    I really like your writing style, good information, appreciate it for putting up : D. InnaXcellentx http://aoichiii.tumblr.com

    February 11, 2013 at 21:51 | Report abuse | Reply
  41. raydioed

    This is a deep subject so I wont g far into it however instead I know they should spend lots more time finding a cure for cancer !!

    February 26, 2014 at 15:15 | Report abuse | Reply
  42. raydioed

    Dont know much about why they are so interested in this sort of thing but I know they should be spending much more time finding a cure for cancer !!

    February 26, 2014 at 15:17 | Report abuse | Reply
  43. raydioed

    How Many New Cancer Cases and Deaths Occured in 2008 Worldwide?
    According to estimates from the International Agency for Research on Cancer (IARC), there were 12.7 million new cancer cases in 2008 worldwide, of which 5.6 million occured in economically developed countries and 7.1 million in economically developing countries (Figure 1). The corresponding estimates for total cancer deaths in 2008 were 7.6 million (about 21,000 cancer deaths a day), 2.8 million in economically developed countries and 4.8 million in economically developing countries. By 2030, the global burden is expected to grow to 21.4 million new cancer cases and 13.2 million cancer deaths simply due to the growth and aging of the population, as well as reductions in childhood mortality and deaths from infectious diseases in developing countries. Seems to me if all the medical scientists worlwide would put thier heads together they could surely find a cure for this deadly disease.

    February 26, 2014 at 16:22 | Report abuse | Reply
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Get a behind-the-scenes look at the latest stories from CNN Chief Medical Correspondent, Dr. Sanjay Gupta, Senior Medical Correspondent Elizabeth Cohen and the CNN Medical Unit producers. They'll share news and views on health and medical trends - info that will help you take better care of yourself and the people you love.