New research changes perspectives on Down syndrome

In an ironic twist, while traveling to present at a conference on prenatal testing and Down syndrome, news broke that they may have “fixed” Down syndrome. The reactions to this news may change perspectives on Down syndrome.

Today I present at a conference at Trinity University sponsored by the Lejeune Foundation. If you are not planning on attending, you can live-stream the conference at this link. While driving up for the conference, news broke of a major development in Down syndrome research.

Researchers were successful in de-activating–turning off–much of the genetic material on the extra 21st Chromosome that is the basis for Down syndrome. Using the same genetic instructions that instruct the extra X chromosome in females (women have two X chromosomes whereas men have an X and a Y) to turn off, the researchers were able to deactivate the extra 21st Chromosome.

Now, this only occurred in cells in a petri dish. So, any treatment for individuals with Down syndrome remains a long way off. But, the research suggests a potential gene-based treatment. The news drew instant reactions across the internet, which should change some perspectives on Down syndrome.

First, for women expecting a child with Down syndrome in the future, a treatment may be a very real option someday. With a potential treatment, it will reconfigure what it means to have Down syndrome, similar to how the cochlear implant changed what it meant to be deaf.

And, like the cochlear implant, many parents of children with Down syndrome reacted much the way that parents whose children are deaf reacted to that technology development. Many parents expressed ambivalence, or even resistance, to the news that someday their child’s Down syndrome may be “turned off.”

Now, before some of you have a reflex and say: “well, those Luddites–that’s borderline child abuse! Why wouldn’t the parents want to fix their kid?” understand that many parents do not think there’s anything wrong with their child with Down syndrome and they love them just the way they are. If anything, they worry what turning off the extra chromosome would mean in the way of their child’s personality and how they acted.

So, both reactions should change perspectives on what it means to have a child with Down syndrome.

This is yet another step into the Brave New World, where parents will have the ability to choose their children’s characteristics. It’s already happening through the selection of embryos prior to IVF, with those decisions ranging from avoiding terminal conditions, to selecting for eye, hair, and skin color.

The new research comes with many ethical questions that go to the nature of who we ultimately are: are we determined, in whole or in part, by our genetic nature? Can man be trusted to exercise control over that nature? If Down syndrome is a natural part of the human condition, what will it mean if it disappears due to treatment? And, will treatment become normative, like prenatal testing is becoming, where it is seen as something that should be done, rather than viewed as a choice left to the parents?

And, finally, when the news broke, I couldn’t help thinking of what this same development would mean for other conditions. Because it’s just the start with Down syndrome. If they can turn off the genes on the 21st Chromosome, it’s only a matter of time before they figure out how to turn off genes on other chromosomes.

Perhaps it’s just a thought experiment, but it is often noted how society’s approach to prenatal testing would change depending on the genetic condition. This is already the case where the genetic condition is “sex,” where it is understood such testing can express a discriminatory attitude towards the selected against sex, currently most often female. How would this news be greeted if (when) they discover a genetic basis for homosexuality, the so-called “gay gene.” How would this development be covered if researchers had discovered how to turn off the gay gene, allowing parents that genetic “treatment?”

Regardless, the new development will change perspectives on Down syndrome: for some it promises a treatment, for others they do not think their child needs to be changed from who they are.