By Dave Andrusko
We’ve written two stories about a very important topic—a new noninvasive procedure that may allow women someday to test their unborn babies for more than 3,500 genetic disorders. Needless to add, there are ethical concerns galore in opening this “Pandora’s Box,” as NPR’s Rob Stein described it.
The research, published in the journal “Science Translational Medicine,” draws on a relatively new discovery that there is DNA from the baby that circulates in the mother’s blood. So the trick is to find a way to extract and analyze that DNA. It turned out that this could be done by taking blood from the mother and saliva from the father.
The lead scientist, Dr Jay Shendure, said, “This work opens up the possibility that we will be able to scan the whole genome of the fetus for more than 3,000 single-gene disorders through a single, non-invasive test.” How far off this maybe is speculation, but they seem to think within five years, others much further down the line.
What I didn’t think about until I read about a story on NPR’s website today is that this is building on something that is already available on the market and about which we have written several times.
Within the last couple of years “there have been other tests,” according to Stein, “that also take advantage of the fact that there’s DNA circulating from the fetus in a mother’s blood.” These tests are much more specific, he explained.
“They don’t analyze the entire genome,” Stein told NPR’s Audie Cornish. “They don’t spell out every single letter in the genetic code. They look for very specific variations, usually things like Down syndrome and conditions related to that.”
Put another way, the same search-and-destroy test that potentially targets babies with Down syndrome will someday be available to find some 3,500 genetic disorders.
Cornish and Stein had this most revealing concluding exchange
“CORNISH: And so what have been the concerns people have raised about ethics?
“STEIN: Yes. The tests that have come on the market in the last year or two, they’re now considered pretty reliable, but they still need to be confirmed by follow-up tests if there’s a positive result. The concern there is that maybe some people would get frightened and act prematurely and terminate the pregnancy without getting that confirmatory result.
“Other people are worried about just the whole idea of terminating a pregnancy with, let’s say, a Down syndrome baby. There’s a lot of concern that people don’t really understand Down syndrome, that it’s – people can live full lives with Down syndrome and any – of course, anything that involves terminating a pregnancy is always controversial because that involves abortion, of course.
“CORNISH: And can this also lead to parents also picking out the traits they want in a child?
“STEIN: Right, right. That’s the theoretical possibility that some day down the road, this can open up a real Pandora’s Box of all kinds of moral and ethical problems. If you can scan the genetic code of a fetus for Down syndrome, for example, could you some day scan the genetic code for a gene that makes somebody a good athlete or give somebody blue eyes or makes them tall or short or be smart?
“Now, none of that is possible anytime soon, but theoretically, some day, it might be possible and, if so, that raises all sorts of possibilities, including that we might create, some day, this ‘Gattaca’ world where you can pick and choose the traits of your child to try to create the perfect baby, what they call a designer baby.”
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