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Prenatal Screening Could Eradicate Genetic Disease, Replace Natural Conception

Genetic birth defect screening is about to get faster, cheaper, and more comprehensive – all at once. A new technique could soon make genetic defects a thing of the past… and replace natural conception altogether. So much for the birds and the bees.

Newborn screening has become nearly ubiquitous in the US, but many couples want to prevent genetic disorders altogether. For years, preimplantation genetic diagnosis (PGD) has allowed couples to ensure the health of their child. But a new screening technique called karyomapping is going to improve prenatal diagnosis in basically every way, abc_embryo_070704_mnreplacing traditional PGD techniques. Karyomapping will allow doctors to detect both chromosomal abnormalities and single gene defects with a single test, making it a near-universal embryo screening. The technique should go into regular use by the end of the year.

To perform PGD, doctors take oocytes (immature ovum cells) from the mother’s body and fertilize them in vitro, or in test tubes. Once the embryos have developed, each one is biopsied and tested for various genetic disorders. When a healthy embryo has been identified, it can be implanted into the mother and carried to term, disorder-free.

Current PGD techniques can test for about 350 disorders, but doctors must first determine the exact DNA mutation that is common in a family. Once the mutation is identified, a custom test must be developed, which can take weeks or months. Karyomapping can identify any one of the 15,000 genetic conditions we know of, and it can currently take as little as 3 days. The technique currently costs the same as traditional PGD (a few thousand dollars), but the price will likely drop soon, bringing it within reach for more and more families.

pgdKaryomapping compares the embryo’s DNA with genetic samples from family members to determine how inherited disease has passed down the generations. Over 300,000 areas of the genome are analyzed using microarray chip technology. Literally every genetic disorder we know about can be detected, and the test doesn’t have to be patient-specific. That makes it cheaper, quicker, and better than current PGD techniques (and more viable for widespread use).

Normally, separate tests are required to detect gene defects and aneuploidy (an abnormal number of chromosomes). Karyomapping can screen for both, which should speed up the doctor’s visit. Improvements in vitrification methods will allow doctors to freeze embryos at the blastocyst stage, which gives them time to run the screening. This means that fewer embryos will need to be vitrified as compared to traditional methods, which will improve efficiency (and thereby costs).

Besides the regular debates over embryonic ethics, prenatal screening always brings up the whole Gattaca prospect: that soon, every one of your traits will be hand-chosen by your parents, doctor, or government. Previously, we’ve covered the designer baby debates, making the point that the issue is here to stay. Parents have already chosen their child’s gender, and more traits will likely follow. It’s worth mentioning, however, that outside genes aren’t added (just one parent’s genes chosen over another)… sort of like fixing the dice.

Regardless, these technologies will continue to become more widespread, especially as new techniques like karyomapping make it more accessible. If there’s a time to have the ethical debate, it’s certainly now. But it’s important to consider that more and more often, genetic disorders won’t need to be treated; they’ll just be prevented altogether. A future in which genetic disorders have been eradicated altogether is one worth fighting for, and that’s becoming a reality. Pretty cool.

Who’s to say in vitro fertilization won’t become more widespread as it becomes easier and better? Couples could increasingly choose IVF over natural conception to ensure their child’s health. Maybe some day, gambling with old fashioned genetic recombination will be considered child cruelty, an unnecessary risk that carries a social stigma. What if natural conception was actually illegal?

Would you ever consider karyomapping your kids? Why or why not? What if you could be 100% sure they would be free of any and all genetic diseases?

We’ll continue to report on genetic screening (and designer babies, of course) as this young and exciting technology continues to develop.

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11 comments

  • David Wood says:

    This sounds great. I have no problem with the idea of screening for genetic diseases or even families choosing non-health related traits in their children (as long as those traits don’t jeopardize the baby’s health). Only problem is the cost. Healthcare and especially elective procedures like this don’t seem to come down in price ever. Just the opposite. There’s not the price reduction for health technology that there is for other kinds of tech. So how to keep this from being a rich only option?

  • David Wood says:

    This sounds great. I have no problem with the idea of screening for genetic diseases or even families choosing non-health related traits in their children (as long as those traits don’t jeopardize the baby’s health). Only problem is the cost. Healthcare and especially elective procedures like this don’t seem to come down in price ever. Just the opposite. There’s not the price reduction for health technology that there is for other kinds of tech. So how to keep this from being a rich only option?

  • Matthew says:

    I thought there was about 4,000 genetic disorders, not 15,000.

  • Matthew says:

    I thought there was about 4,000 genetic disorders, not 15,000.

  • World of Science says:

    The generally accepted guidelines for eligibility of pregnant women for prenatal diagnosis by amniocentesis or CVS are based on evidence that the risk that the fetus is abnormal is at least as great as the risk of miscarriage from the procedure itself.

  • World of Science says:

    The generally accepted guidelines for eligibility of pregnant women for prenatal diagnosis by amniocentesis or CVS are based on evidence that the risk that the fetus is abnormal is at least as great as the risk of miscarriage from the procedure itself.

  • marge says:

    What is the cost for screening embryos for detected genes?

  • marge says:

    What is the cost for screening embryos for detected genes?

  • finalhero says:

    This is stupid. Why would you even want to do this? Yeah okay, so your kid could be perfect and healthy. To have a perfect kid would be unnatural. It would also be taking away some factors that would contribute to natural death, meaning a longer lifespan and more people on the planet. We're already overcrowded in a lot of areas so to do this would just make it worse. It's not just that i think this is a terrible idea… i think it's one of the worst ideas ever. Why not just leave it to nature and let it be? If you do this and your kid has a disease/birth defect what are you going to do, scrap them and start over? I would never ever do this.

    • Peter says:

      If you had genetic disease, lets take Huntington’s for example, and you know that you and your family are going to go through years of pain before you die, often more than twenty years before you should; then would you not want to eradicate the problem for the next generation so no one would ever have to go through the same thing. If this does not give you a reason for supporting it then you a cruel and heartless person. If then you will not support because of compassion, support due to money. If there was nobody who ever needed to be treated in a hospital because of a genetic disease, tax would go down, the hospitals would be faster, cleaner and much more well equipped to treat the remainder of patients. It is so much harder to find a cure for 15000 diseases rather than finding a universal prevention system.

  • Peter says:

    If you had genetic disease, lets take Huntington’s for example, and you know that you and your family are going to go through years of pain before you die, often more than twenty years before you should; then would you not want to eradicate the problem for the next generation so no one would ever have to go through the same thing. If this does not give you a reason for supporting it then you a cruel and heartless person. If then you will not support because of compassion, support due to money. If there was nobody who ever needed to be treated in a hospital because of a genetic disease, tax would go down, the hospitals would be faster, cleaner and much more well equipped to treat the remainder of patients. It is so much harder to find a cure for 15000 diseases rather than finding a universal prevention system.

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