New Universal Embryo Test Can Detect 15,000 Genetic Diseases

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karyomapping

The Times (London) reports on the development of a new pre-implantation genetic test called karyomapping:

Karyomapping … can be performed within a few weeks, for any inherited condition. At present, costs are comparable to the £1,500 price tag of standard PGD (pre-implantation genetic diagnosis), but these are expected to fall significantly as the technology is developed.

DNA samples are first obtained from the parents and a close relative, usually a child who has the disease in question. This can be done using a noninvasive cheek swab.

This information is then compared with DNA from an embryo, obtained by a biopsy in similar fashion to PGD, to map how its chromosomes are built from the genetic material of its four grandparents. The map can determine whether the embryo has inherited chunks of chromosome that contain any faulty gene…

Karyomapping works by analysing chromosomes – the packets that hold genes. Humans have 46 chromosomes arranged into two sets of 23, one provided by the mother and one by the father, through eggs and sperm.

When these are made, they each receive just one set of 23 chromosomes, so that when they fuse they create an embryo with the normal complement of 46.

During this process, a man's sperm acquires some blocks of DNA that originally came from his mother (the embryo's grandfather), and some that he inherited from his father (the embryo's grandfather). The same applies to a woman's eggs.

Karyomapping involves drawing up a chart of where these grandparental chunks lie on an embryo's chromosomes. This can be done by comparing DNA from the parents, at least one close relative, and the embryo itself.

Scientists examine more than 300,000 DNA markers throughout the genetic code, which together can show which grandparent provided a particular block of DNA. Once the map is complete, it can be examined for faulty genes.

It is not necessary to know the DNA code of a particular mutation, only its position on a chromosome and the grandparent who passed it on. The gene that causes cystic fibrosis, for example, lies on chromosome 7. If the embryo's paternal grandfather was a carrier, and the embryo has inherited a chunk of his DNA at the critical position, it will have the faulty gene.

The same thing can be done again and again across all the chromosomes, to allow screening for multiple genes. In practice, this is difficult for more than two or three traits, because few embryos will have the desired DNA at every point. A karyomap could also be reused after a screened embryo has developed into a child. This could reveal genes that give a raised risk of Alzheimer's or heart disease.

As the Times headline suggests, widespread use of karyomapping "could kill off inherited illnesses." 

Whole Times story here

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  1. Oh goody. An abortion thread. weeeeeeeeeee

  2. Over/under on miss-the-point shock headlines referencing “eugenics” within the next week? How about 50?

  3. Question: Do they consider stupidity a genetic disease?

  4. Tomcat1066, it does seem to run in my fambly.

  5. “could kill off inherited illnesses”

    Interesting choice 😉 of words.

  6. widespread use of karyomapping “could kill off inherited illnesses.”

    …by killing off the people who carry them. But you knew that.

    If there were actually a way to modify these genes without harming the embryo, I don’t see how there could be moral objections — but otherwise it’s at the very least creepy as hell.

  7. Why are none of the chromosomes in the picture black?

  8. This embryo’s got a problem. The red chromosome on the far right is unpaired.

  9. SFH, that’s the gay chromosome. Pairing isn’t allowed by law.

  10. Question: Do they consider stupidity a genetic disease?

    Yes, but if you’re a Democrat, you believe that those afflicted with it should receive public funding.

  11. brotherben, you’re on fire today. 😀

  12. Why are none of the chromosomes in the picture black?

    The test tech was a J-E-W.

  13. It is not necessary to know the DNA code of a particular mutation, only its position on a chromosome and the grandparent who passed it on

    This is the tricky bit. You could be giving away DNA mapping for free, and you’ll be no closer to “killing off inherited diseases” if you can’t identify which genetic material causes the diseases. There’s about 3 billion base pairs in the human genome, and complex diseases can involve DNA from multiple chromosomes. The Times reporter is too credulous.

  14. brotherben: mine too.

    Perhaps now that we can identify stupidity in the embryo, we can work towards fixing this so that there won’t be poor, stupid people in this world.

    And, since they breed at a far faster rate than the rest of us, this is for the good of humanity!

  15. I want to live!!!!

  16. This embryo’s got a problem. The red chromosome on the far right is unpaired.

    That’ll be the X chromosome. The Y is the little blue stub in the top center of the picture.

  17. That’ll be the X chromosome. The Y is the little blue stub in the top center of the picture.

    So it’s a boy? That’s a disease, or at least it is in Sweden.

  18. I thought this was a picture for a new Benetton ad campaign at first.

  19. Parents now have an awesome new power. I hope they use it wisely, and I’ll fight hard to make sure that they get to decide which embryoes to implate without any outside pressure. On a personal note, I decided not to procreate, because I learned in grad school that any kids I sired might spend most of their lives in a hospital. I would clone offspring from my DNA to ensure that they could lead healthy lives, but I don’t think I would use pre-implantation selection to pick only offspring with healthy DNA for survival.

  20. widespread use of karyomapping “could kill off inherited illnesses

    Only if people stop procreating the good old-fashioned way.

  21. Does this mean we can kill off sick fucks already alive–like Bailey?

  22. Well, fuck me!

  23. Hey Ron, when does an “embryo…develop[e] into a child”? Whenever the mother decides?

  24. dorothy – that’s not the correct question, of course. The question is, when does the child’s legal right to live exceed the mother’s legal right to terminate the pregnancy (yes, thereby killing the unborn child, which may be an embryo, or a fetus, or a zygote, or a blastula, or a gastrula).

    I’d say, at least at the point of extra-uterine viability, except in cases of risk to the life or the health of the mother.

    You may now return to your regularly scheduled trollery.

  25. dorothy, from the linked article:

    “Karyomapping builds on the standard PGD procedure, which was developed by the same doctor, Alan Handyside, in the late 1980s. In PGD, embryos are created by IVF, and when they have grown to eight cells a single cell is removed from each embryo for genetic analysis. Only unaffected embryos are then implanted into the womb.”

    So, I’m guessing, after the doctor decides.

  26. Only unaffected embryos are then implanted into the womb.

    And what, pray tell, happens to the “affected” embryos?

    Amazing how people who are so confident that what they’re doing is not only not immoral but also so beneficial to humanity, feel the need to resort to tedious circumlocutions.

  27. I’d say, at least at the point of extra-uterine viability, except in cases of risk to the life or the health of the mother.

    The excess embryos produced by IVF are already outside the uterus, so it would appear they pass your test for the right to life.

  28. a single cell is removed from each embryo for genetic analysis. Only unaffected embryos are then implanted into the womb.

    The way its written it sounds like the “affected” embryos are the ones that have had 1/8 of their cells removed.

    C’mon, man, say what you mean: “Flawed embryos are flushed. An unflawed embryo may be implanted, or if it is surplus to requirements, may be flushed as well.”

    NTTAWTT.

  29. Tulpa@ 3:26pm

    nice

  30. The question is, when does the child’s legal right to live exceed the mother’s legal right to terminate the pregnancy […].

    I’d say, at least at the point of extra-uterine viability, except in cases of risk to the life or the health of the mother.

    Which brings us to Niven’s ninth law and the question “Should the Supremes revisit the issue with regard to how you divy up the term for the purpose of allowing state regulation?”

    And the follow on question: “Can a unwilling mother past the moment of her rights be judged superior lawfully cause an early live birth, and if so, who pays for the subsequent care of the infant?”

  31. R C Dean,

    Could they have meant “afflicted?” As in “Only unafflicted embryos are implanted.” Unless they are cloning the embryos, testing one and then implanting an untested one doesn’t make any sense. Every embryo is a different roll of the genetic dice.

    And the unused embryos could be used to make stem cell lines. Waste not, want not.

  32. I’d say, at least at the point of extra-uterine viability, except in cases of risk to the life or the health of the mother.

    The excess embryos produced by IVF are already outside the uterus, so it would appear they pass your test for the right to life.

    Er.

    No.

    They can be artificially kept alive for a while, or kept on ice indefinitely, but they have to go in utero before they can grow to be a baby.

    Or you can store them in hopes of fully artificial support becoming possible at a later date. If you do, who is going to take responsibility for the kids?

  33. “could kill off inherited illnesses” along with any unforseen talents or unique abilities. Here we go with designer babies again.

  34. And the unused embryos could be used to make stem cell lines. Waste not, want not.

    The astute reader will recall other historical examples of humans having the wrong genetic makeup being offed and having useful parts of their bodies (such as teeth with gold fillings) removed for the use of the state.

  35. Yes, Tulpa. Because flushing 16 cells is exactly like murdering a Jewish person with poison gas.

  36. Way to Godwin the thread, SF.

  37. Why do all this expensive genetic testing to find out if the kid has some kind of disease? Just wait for the kid to be born, and if it shows signs of disease or abnormality, just leave it somewhere to die, like the old pagans did before the Christians spoiled everyone’s fun.

  38. Just wait for the kid to be born, and if it shows signs of disease or abnormality, just leave it somewhere to die,

    Call it a 10-month embryo and a post-partum abortion, and you’re home free.

  39. is it too late to abort Tulpa?

    Tulpa, if you think that the extra-uterine embryos produced by IVF are independently viable, take them home and set a place at the dinner table for them.

  40. I don’t see your average newborn independently using the correct fork at the dinner table, either.

  41. Mad Max | July 7, 2009, 5:00pm | #
    Why do all this expensive genetic testing to find out if the kid has some kind of disease? Just wait for the kid to be born, and if it shows signs of disease or abnormality, just leave it somewhere to die, like the old pagans did before the Christians spoiled everyone’s fun.

    This.

  42. Tulpa – feel free to help out the embryo by holding a spoon of mashed peas up to its mouth

  43. Did I tell you about the time I resolved the abortion debate once and for all? 😉

  44. “During this process, a man’s sperm acquires some blocks of DNA that originally came from his mother (the embryo’s grandfather), and some that he inherited from his father (the embryo’s grandfather).”

    So the paternal donor to this hypothetical embryo was himself once a very unique even progressive embryo, one comprised of 23 chromosomes from the father’s sperm and 23 from the other father’s egg? Or in cases where both maternal and paternal donors are fathers does the embryo get one set of 23 from the father’s sperm and the other from the motherfather’s sperm?

    Impossible to determine by reading the article how the embryo was made, but since it appeared in the Times of London, it’s my guess the two to be grandfathers met in a club down in old Soho, where they drank champagne that tasted just like cherry-cola, one was named Lola, and …or, maybe it was just a typo.

  45. Thanks for the informative post..IO like it very much. keep sharing..

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