Substack cometh, and lo it is good. (Pricing)

Your child's genome before the 2nd trimester?

A long piece in Slate, Will Gattaca come True?:

When Lo licensed his technology to Sequenom, he stipulated that it could not be used for sex selection. Rabinowitz says Natera won’t test for sex at this point, either. But how long such provisions will hold is unclear. Meanwhile, NIPD’s reach is expanding as the technology used to analyze cffDNA improves. In December 2010, Lo published a paper in Science Translational Medicine showing that in principle, at least, scientists can piece together the entire fetal genome from cffDNA. Lo says that exceeded even his own expectations: “If you asked me prior to 2008, I would have probably said that was science fiction.”

At the time his paper was published, the process cost $200,000. Now, with the cost of DNA sequencing dropping faster than that of computing power, he estimates the bill may come to one-tenth of that—still expensive, but no doubt tempting for some parents. Lo wagers complete fetal genome testing might be widely available in a clinical setting within a decade. What fetal genes might one day suggest about a baby’s eye color, appearance, and intellectual ability will be useful to parents, not insurers. But with costs coming down and insurers interested in other aspects of the fetal genome, a Gattaca-like two-tiered society, in which parents with good access to health care produce flawless, carefully selected offspring and the rest of us spawn naturals, seems increasingly plausible.

First, it’s rather crazy that as we live and breathe it is on the order of $20,000 to get a genome of your unborn children! I say on the order because no one knows, and I assume that they’re being optimistic here for media consumption. We plan to get screening for karyotype scale issues for our next child, so I keep track of this area with some interest.

All that being said, without pre-implantation genetic diagnosis it’s going to be very unlikely that you will get the “perfect child,” barring gene therapy. I may be unimaginative, but I can’t see the actionable use of a relatively dense genotype, let alone a full genome, at this stage once you eliminate the risks of very problematic diseases. I suppose at this point I can divulge that I tried to get my daughter’s genetic material from a c.v.s., so she could get typed while she was in utero, but that was mostly for the “wow!” factor (for what it’s worth, it’s really hard to get genetic material back from large biomedical firms).

Finally, I don’t find the beating-around-the-bush about “trick ethical questions” that is par for the course of these sorts of pieces useful. The reality is that most of the public finds this aspect of personal genomics “scary.” You don’t need to genuflect to it, just accept it as a given. Rather, lay out the issues in explicit detail, and let the people make their own judgement.

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