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.
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.