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Potential Personal Genomics

Neuroskeptic iconNeuroskeptic
By Neuroskeptic
Nov 19, 2011 9:35 PMNov 5, 2019 12:15 AM


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A while ago I wrote about how new findings in genetics could herald a new kind of "eugenics", based not around selective breeding to ensure that "bad" genes aren't passed on, but rather based on using fetal genetic testing to choose which variants enter the gene pool in the first place.

I said-

In the near future, we might be able to routinely sequence the genome of any unborn child shortly after conception

But I didn't realize that this may be really very near indeed. Two recent reportshave shown that it's possible to sequence fetal DNA from a maternal blood sample. In one case it was used to diagnose a 35 week fetus with a genetic deletion on chromosome 12 seemingly associated with autism, developmental delay and shortness.

In this case it was inherited from the father (which is why they decided to test for it), but this approach could equally be used to screen for the de novo mutations that account for much disease, as I discussed in the last post.

This is big. Currently, the main way to get fetal DNA is through amniocentesis, i.e. inserting a needle into the womb. It's a substantial and not entirely safe medical procedure. A blood sample would be an order of magnitude cheaper and safer, but most of all it would be something you could do at home.

No longer would you need to go to a hospital and discuss everything with a doctor. You could take some blood, send it off anonymously to a sequencing company, and get the results in an email. It would take it out of the hands of professionals and open up a space for individual choice.

The cost of whole-genome sequencing has been falling exponentially and many think it will fall below the $1000 mark within a few years. Combine that with fetal DNA testing and we might see moderately well-off parents able to sequence fetal DNA within the next decade.

When this happens I think the personal genomics industry will suddenly become extremely "hot". At the moment you can sequence your own DNA for a few thousand $ if you want. The results may be interesting but they're of little obvious use. Whatever your genes are, you're stuck with them.

But as soon as we're talking about potential human genomes, it'll kick things up a notch. Media interest and political controversy is sure to follow. Personally I think it'll the debate will begin in earnest when we start seeing selective abortions on the basis of genes for "normal" variants rather than "disease" genes.

It's one thing to not want a child with blindness, or a high risk of leukaemia. But as a society I don't think we're ready for not wanting a child because they're predicted to be a B student rather than an A student, or brunette rather than blonde. At some point soon, though, we'll have to decide what we think about that.

Peters D, Chu T, Yatsenko SA, Hendrix N, Hogge WA, Surti U, Bunce K, Dunkel M, Shaw P & Rajkovic A (2011). Noninvasive prenatal diagnosis of a fetal microdeletion syndrome. The New England journal of medicine, 365 (19), 1847-8 PMID: 22070496

Srebniak M, Boter M, Oudesluijs G, Joosten M, Govaerts L, Van Opstal D, & Galjaard RJ (2011). Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow. European journal of human genetics : EJHG, 19 (12), 1230-7 PMID: 21694736

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