Targeting the difference gene

A major theme of my 2003 book on dwarfism, “Little People,” was what would happen in the not-too-distant future when inexpensive tests would be developed to detect the 100 or so most common genetic conditions in utero. Would dwarfism and other human variations be eliminated? How would it change our uneasy relationship with difference, which we both celebrate and fear?

Now it’s starting to happen. The New York Times reports today that a company called Counsyl has come up with exactly such a test. It costs only $698 for couples. It’s not an in utero test; rather, the aim is to tell would-be parents whether they are carriers of genetic conditions. And there are questions as to how effective the test will be. But we have finally reached the starting line.

The most common form of dwarfism, achondroplasia, is not on the list, and there’s a good reason for that: it’s a dominant condition. If you have the gene, you’re a dwarf, and a carrier by definition. But diastrophic dysplasia and cartilage-hair hypoplasia, recessive forms of dwarfism, are on the list. (For those of you who have seen “Little People, Big World,” Amy and Zach Roloff have achondroplasia. Matt Roloff has diastrophic dysplasia.)

And what are you supposed to do if you learn you are a carrier? Counsyl calls these “Preventable Genetic Diseases Covered by the Universal Genetic Test.” We get the picture, and it’s mighty chilling.

We are all entitled to as much information as possible. It’s up to each of us to decide what to do with that information. Nevertheless, you can’t help but be concerned about where this is going to lead.

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8 thoughts on “Targeting the difference gene”

  1. There is a reason that nature provides these variations. Who’s to say that evolution would not one day favor those variations we now find “abnormal”?

    To start messing with this is indeed the stuff of frightening science fiction.

  2. How long before “conversative” and “liberal” are on the list?

    Think I’m joking? It’s been a serious area of study (well, sort of) for several years now.

    Perhaps more importantly, people may scoff at such an idea but there’s definitely a subset of very serious people with substantial financial backing who are quite determined to find if there’s any genetic component to political affiliation. In other words, there’s so much at stake that odds are good that someone will, sooner or later, figure it out.

    The best part about this is, of course, that society is nowhere near ready to deal with the ethical implications of this. So it just increases the odds that it’ll rip the fabric of our society to shreds. Since I support the “Fight Club” approach to sociology, I’m all for that!

    P.S. How will we know when the rip starts? Watch for the first state to mandate that all members of a given subset of prisoners get tested.

  3. We are all entitled to as much information as possible.

    Oh really? I *dare* you to make a case that we, as a society, are better off now that we, as a society, are DROWNING in information. Compared to the pre-internet age.

    Personally, I don’t think we such be entitled to “as much information as possible”. We should be entitled to, for lack of a better way of putting it, “the truth”. Heaping tons of info on our brains does not make it easier to get “the truth”, it just makes it harder.

    Disclosure laws are meaningless when you don’t have the ethical, moral and intellectual basis to understand what’s being disclosed…and those doing the disclosing have learned how to make it impossible for anyone without years of free time and a Ph.D. to obtain that ethical, moral and intellectual basis.

  4. This is all really hard.

    I come from a family with lots of Down’s Syndrome. Because of its prevalence within the family our strain is likely caused by Trisonomy 21, though I’m not aware of anyone in my family that has had a genetic test to prove it.

    Because I am a healthy male it is more likely than not that I am not a silent carrier. At the same time the chance that I am a silent carrier is much much greater than the general population.

    You don’t need to tell me that a Downs baby isn’t the end of the world. They’re my family – I know that and I love (and in some cases dislike) all my family in a very common way. But you can’t tell me it is inconsequential either – it matters a lot. There is a significant burden on both parent and child, and yet its who we are – and we’re still proud people.

    With all of this in my head I just put off considering having children until I was 35. I wasn’t saying “no” – I was just putting it off – not sure what to make of it.

    Well, the clock ticks (as my wife reminded me). So I decided to get a genetic test. It wasn’t the one Dan mentioned here – but it was a simple blood test that was sent to genzyme for processing. I believe the cost was $800 (which is simultaneously absurdly expensive and absurdly cheap when you realize they can do genetic analysis for the cost of 2 weeks of rent!), but it was covered by insurance “due to my family history”.

    The test was negative. A couple years later and we have a gorgeous, healthy, baby girl that is the pride of our life. Would we have gone on and risked a gorgeous downs baby that would have been the pride of our life anyhow if the test was positive? I don’t know. I do often wonder.

    We certainly would not have terminated an in-utero pregnancy – Downs is a condition worth living with – my personal experience tells me that without question. But, in fact, I was already deciding not to try for a child based on my family history and the test allowed me to go ahead with an easier decision.

    I’m grateful for it.

  5. Anon 10:15: Your post is intelligent, and balances the complexities and subtleties of the struggle. It hardly belongs on the Internet! =)

    I’m so glad things worked out for you, and that you were able to guide your decision better. Is such testing always the right choice? That’s complex, too. I don’t know.

    So, an off-topic suggestion: “My Life As A Chicken” by Ellen A. Kelley. =)

  6. That they consider dwarfism a “disease” truly defines what passes for their moral compass. The fact that they term it a “preventable” disease — unless they know of a way to correct, remove or replace the gene causing dwarfism — is the really chilling part since that leaves only two options.Do they proudly label their business “Eugenics for the 21st century”?

  7. Two things. First, it has been proved in animals that if you breed a thoroughbred, or all identical, then it leaves that breed open to a disease that could wipe the lot out. Same would apply with Humans, so the deviations are, it could be argued, the life saver of the human race.

    Secondly, how long before insurance companies INSIST on such tests before giving cover?

  8. I don’t think that there’s any conflict or uneasiness with difference. I would guarantee that almost all parents, if they were aware of it and could afford it, would want this test, and do everything they can to have children free of disorders or disease, or ‘variation’ and ‘difference’. It’s human nature, no matter how much we try to educate or socialize ourselves into thinking otherwise.

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