Counsyl, Genetic Screening, and the Very Common Medical Procedure That Must Not Be Named

As someone who is Jewish, and thus at an elevated risk for Tay-Sachs disease, a degenerative disease that inevitably kills small children, and does so miserably, I appreciate the need for genetic screening. So, while it's not perfect, I think companies like Counsyl that are selling screening for harmful genetic diseases are providing a useful service (although many conditions will still be missed). Nonetheless, their stated marketing pitch is missing something. Can you figure out what it is?

From The NY Times:

The company, Counsyl, is selling a test that it says can tell couples whether they are at risk of having children with a range of inherited diseases, including cystic fibrosis, Tay-Sachs, spinal muscular atrophy, sickle cell disease and Pompe disease (the one afflicting the children in the movie).

Once informed, Counsyl says, couples can take steps like using in vitro fertilization with genetic testing of the embryos, to avoid bearing children who would have the diseases, many of which are incurable and fatal in childhood.

Some genetic testing of prospective parents is done now, but only for a few diseases like cystic fibrosis and Tay-Sachs, and only for certain ethnic groups. Each test can cost hundreds or even thousands of dollars.

Counsyl's test, which analyzes DNA from saliva samples, costs $349 for an individual or $698 for a couple. Similar tests from others are on the way, experts say.

Keep in mind that this model will mean that many couples will spend thousands of additional dollars to have a child because in vitro fertilization is expensive. There is another option that they're not mentioned--and is where I think it will actually be used: selective abortion.

I realize this is anathema to the Disciples of the Blessed Blastocyst, but this is the humane thing to do for diseases like Tay-Sachs.
Consider this:

Infants with Tay-Sachs disease appear to develop normally for the first six months of life. Then, as nerve cells become distended with gangliosides, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. Death usually occurs before the age of 4.

The abortion is not the tragedy--the incurable disease is. Admittedly, we, as a society, refuse to discuss what is an integral part of reproductive biology--that is, as long as women can become pregnant, they will take steps to become unpregnant.

But it would seem to me that this is another justifiable use for this technology.

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But it would seem to me that this is another justifiable use for this technology.

And IIRC even even extremely Orthodox religious authorities agree. They're not generally happy about abortion, but they want families with healthy children, not little graves and suffering. Thus a fetus who threatens the mother is a rodef and abortion is at least permitted if not required. The same reasoning is applied by some (R. Waldenberg, for instance) to lethal congenital defects which cause suffering for all involved and may dissuade parents from the mitzvah of reproduction.

By D. C. Sessions (not verified) on 02 Feb 2010 #permalink

Obviously, abortion is cheaper than IVF by a factor of ten. That said, for a family hoping for a healthy child, I'm sure it's harder to get pregnant and have to abort than to be able to select a healthy embryo for implantation. If they have the money, of course. Since lots of families don't have that kind of money, the abortion option must be available.

There was recently a story in the popular press that reminds me of this. A baby was born in Florida with anopthalmia (no eyes) and it was NOT DETECTED ON ULTRASOUND!!!! They went on at some length about that . . . yet no mention that the only difference it would have made, would have been that the mom would have had the choice to abort.

By Deborah Rowan (not verified) on 02 Feb 2010 #permalink

I'm not opposed to the availability of abortion, but in fairness I think it should be pointed out that some people are counseled to abort embryos that turn out to be perfectly normal.

My brother and his wife were advised that they might want to consider an abortion after an abnormal alpha fetal protein test. They do not believe in abortion, and their baby was perfectly normal.

BaldApe @#4;

There's quite a large difference between 'counseled to abort' and 'advised that they might want to consider an abortion'. One is pushing toward a specific course of action, the other is making sure that the prospective parents are educated as to all their possible options.

I wasn't there of course, so I cannot know exactly how that 'counseling' went - but I find it very hard to believe that the parents were actually counseled to abort, as opposed to simply being informed that abortion was an option to consider.

If they were, I'd agree that the doctors were wrong to do so.

Point taken. Also, when under emotional stress, what is intended one way may sound like another thing entirely.