Wiping out human variation

A test allowing people to see if they have 'preventable genetic diseases' gives them the chilling choice of eliminating difference
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Two weeks after our daughter was born we saw a geneticist – a polite, well-manicured woman in a business suit who would confirm (or not) our paediatrician's suspicion that our child had achondroplasia, the most common form of dwarfism.

The geneticist examined Becky and pointed to several characteristics of achondroplasia: a larger-than-typical soft spot at the top of her head, a slight separation between the third and fourth fingers of each hand (sort of a permanent Mr Spock greeting) and fatty deposits on the small of her back.

Following the examination, she sat us down and began speaking in her best concerned-doctor tone of voice. "I want you to know," she said, "that there really wasn't anything you could have done about this."

What she meant – and what we instantly knew she meant – was that there would have been no way of, and no reason to, screen for achondroplasia ahead of time. No way to terminate the pregnancy and try again, and to hope for something that she believed, or that she assumed we believed, would be better.

We were flabbergasted at the boldness with which she stated her case, but I suppose we shouldn't have been surprised. We have all been culturally conditioned to believe we are entitled to the perfect child. And a little girl who would grow up to be four feet tall with exceedingly short arms and legs does not fit that paradigm.

Seventeen years later, we are on the verge of being able to do something when our image of perfection is threatened. The New York Times reports that a company called Counsyl has developed a genetic test for about 100 genetic conditions. And it's cheap: $349, or $698 for a couple.

The Counsyl test will not be given in utero. Rather, it's designed to determine whether prospective parents are silently carrying any genetic diseases that might convince them they'd be better off adopting, or trying in vitro fertilization, or not having kids at all. And there are some truly horrible genetic diseases on the list – diseases like Tay-Sachs, which leads to death in early childhood.

But when I looked for what Counsyl rather ominously calls "preventable genetic diseases" that are covered by its test, I immediately saw two forms of dwarfism. Achondroplasia wasn't among them, and there is a good reason for that: it's a dominant condition. If you have the gene, you're a dwarf, and you are by definition a carrier.

What was on the list were two recessive forms of dwarfism, diastrophic dysplasia and cartilage-hair hypoplasia, both of which are perfectly compatible with a good quality of life. By way of illustration for you Little People, Big World fans, Matt Roloff has diastrophic dysplasia. His wife, Amy, and their son Zach have achondroplasia.

Moreover, the former head of our Little People of America regional group has cartilage-hair hypoplasia. He's a schoolteacher who rides a customised motorcycle and is married to a woman with achondroplasia.

In other words, these are not conditions that should be labelled as "preventable genetic diseases". That they would be considered as such underscores our conflicted attitude toward difference. We celebrate it, but we fear it as well, and would stamp it out if given the chance.

Nearly a decade ago I was researching my book on dwarfism, Little People, partly a memoir but mostly an extended meditation on the cultural meaning of difference. I had the pleasure of spending the better part of a day with a psychiatrist named Dorothy Wertz. Her husband was dying, and she would be dead within two years. Yet she cut a flamboyant figure, with a strong physical presence and down-to-earth manner.

In the late 1990s Wertz had conducted a study of about 2,000 people – one-half genetics professionals, one-quarter primary care physicians and one-quarter patients. They were asked whether they would choose abortion if achondroplasia were detected in utero. Among the genetics professionals, 57% would opt for termination; among physicians, 29%; and among patients, 24%.

It was a startling finding, made no less so by the fact that a significant minority of all three groups would choose abortion even if they learned their child's only genetic difference was a predisposition to obesity, of all things. In that context it is no wonder Counsyl would label dwarfism a "disease" that is "preventable".

The problem with such an attitude is that it could lead to the elimination of all sorts of genetic variations. Dwarfism isn't exactly a disease, but it does carry with it a variety of physical complications, mainly orthopaedic. Yet it's a normal part of the human spectrum. What implications might there be for the species if it were erased from our collective genome?

And what about other types of human variation that may have some genetic basis, like bipolar disorder, associated with artistic creativity? What about homosexuality – not a disorder at all, but not exactly welcome in many families? Or why go for a kid with average intelligence when you can try again and maybe produce the next Einstein?

Becky today is a happy, healthy high-school junior who takes care of the nursery-school children in church, writes for the school paper and is starting to think about college. There is every reason to believe she'll have as good and successful a life as her average-height 19-year-old brother, Tim.

Yet what if we had been told we were at risk of having a child with a "preventable genetic disease"? What would we have done? I'd like to think the answer would have been "nothing", but who knows? In 1992, we could at least feel secure in the knowledge that there wasn't anything to be done.

In 2010, and in the years and decades to come, we will not only be able to do something, but I fear we will be expected to do something as well. It's a chilling prospect, and one we haven't even begun to talk about. The time to start talking is now.

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