The age of non-invasive pre-natal testing is here

By Razib Khan | February 20, 2013 12:19 pm

Last summer Neuroskeptic posted on The Coming Age of Fetal Genomics. It seems likely to me that this “age” won’t be ushered in with a bang, but we’ll be there before we know it. After all, most people aren’t thinking about having children at any given moment, and don’t track biomedical advances in genetic disease screening until they’re crossing that bridge. Over at Xconomy Luke Timmerman has a post up, Natera Joins Quest in Four-Way Battle for Prenatal Genetic Tests. Here are some important details:

…The company uses the same basic instrument to analyze DNA—Illumina’s HiSeq—but it has been tailored differently to look for about 20,000 different single nucleotide polymorphisms (SNPs) in the mom’s blood sample. The workflow is pretty simple—a clinician takes a blood sample from the mom, it gets shipped to Natera’s centralized lab in San Carlos, CA, and results are sent back to the physician and patient in two weeks.

After meeting with executives from all four major players in the non-invasive prenatal genetic testing market, and many physicians at the Society for Maternal-Fetal Medicine meeting, JP Morgan analyst Tycho Peterson wrote that the market appears poised to take off.

“In stark contrast to just a few years ago, NIPT [non-invasive prenatal genetic testing] is now widely understood and used by the maternal-fetal medicine community, which tends to be an early adopter of new technology and often sees high-risk patients,” Peterson wrote in a note to clients Feb. 18. Still, he cautioned there are “widely divergent views” among physicians about the appropriate use of the technology, particularly on whether it should be expanded beyond high-risk pregnancies and into more mainstream usage.

For readers of this weblog who are interested in this sort of thing I think the key to note is that it doesn’t matter what your doctor’s views are, just find a doctor who will align themselves with your views. You’re paying for it, and you are going to raise your children, not them.

And by the way, 20,000 SNPs is a decent amount to work with if you got the raw data. It would be good enough probably for inferring the identity-by-descent from various grandparents and such.

CATEGORIZED UNDER: Genetics, Genomics, Personal Genomics
  • Robert Ford

    Razib, are these tests looking for *any* abnormality or just ones that we know may result in problems? If there is a deletion/mutation that is not well understood do you decide to abort based on where the deletion is located? I’m trying to get a sense of how useful it would truly be. Meaning, when there is a “problem” with the fetus that, not only will the test find it but that “you’ll know what to do.”

    • Mike Keesey

      I know a couple who has had two children with Tay-Sachs disease. A test like this could be useful for people like them.

    • razibkhan

      these are narrow and targeted.

  • Laura Hercher

    Razib, important to stress that this technology is still a screen and positive results should aways be confirmed by CVS or amnio — counselors are reporting both false positives and false negatives. For now, the test is also limited compared to other prenatal screens that can show a risk for conditions other than aneuploidy so may be additional rather than a replacement for older technology.

    • razibkhan

      i’m pretty sure we’re going to move past aneuploidy’s soon enough, don’t you think? perhaps better than proof-of-principle whole genome sequencing is going to be well down the line, but in most cases that’s overkill

      • Laura Hercher

        It depends what you mean by soon enough. I would guess that this will be game changing technology, but it is a tad oversold at the moment — and its utility in a low risk population has not been studied at all. Probably not a good bet for most people, even for aneuploidy. So I just wanted to add that point, for anyone thinking about using it today.


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About Razib Khan

I have degrees in biology and biochemistry, a passion for genetics, history, and philosophy, and shrimp is my favorite food. In relation to nationality I'm a American Northwesterner, in politics I'm a reactionary, and as for religion I have none (I'm an atheist). If you want to know more, see the links at


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