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

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.

Source: Discover Magazine – Gene Expression