What Do You Think About Genetic Testing and Autism?
July 12, 2007 by Kristina Chew, PhD
Filed under Health
There is currently no genetic test for autism; the mention of one can incite a serious discussion: If there were a prenatal genetic test for autism, and if expecting parents found out that they might or would have a child with autism, what choice might they make? Would they keep the child? Might they choose to abort the child? (About 90% of women who learn that they will have a child with Down syndrome choose not to have the child.) Autism is currently diagnosed based on behavior; would a genetic test provide a definitive answer for parents trying to understand what their has and what they might do?
My friend Dr. Hsien Hsien Lei is a consultant for DNA Direct, which provides clinical genetic testing online. She posts some thoughtful comments on perceptions of DNA testing in the context of breast cancer; “[i]s medical genetic testing worth the ordeal if there is no cure or 100% effective prevention?” she asks. Her responses to “some general attitudes towards genetic testing” are reasonable and well-reasoned indicate that, even if some condition can be identified via genetic testing, other factors come into play.
The test is worthless because it doesn’t mean that you will definitely develop the disease if you carry the gene variant.
Few things in life are 100%. It’s important to assess how much a gene mutation increases the risk of a particular disease compared to your risk without the gene mutation. Then you must weigh that against what you personally find acceptable. Carriers of the BRCA1 and BRCA2 mutations have a 3 to 7 times higher risk of developing breast cancer than people who do not have the mutation. Should these statistics be cause for concern when we are susceptible to a whole slew of other diseases and negative life events simply by being alive? I say yes but others might say no.A negative test result is still no guarantee you won’t get the disease later.
Yes, and a positive test result is also no guarantee you will get the disease. But it might spur you on to live a healthier life, make better healthcare decisions, stop putting off writing that will, and make other preparations just in case any other calamities befall us in our short lives.……….
Having a positive results will only increase your anxiety and cause you to live every day in fear.
This really depends on the individual. Some are glad to have more information while others are not. Don’t let other less-informed people tell you what you should do. Make your own decisions based on careful thought and research. This list of Pros & Cons of Testing @ DNA Direct.com*[*Hsien Hsien Lei is a consultant for DNA Direct.] may help.
I especially appreciate Hsien’s answer to the middle question: Whatever the results of any genetic test, the ball is in your court. The decisions that people—-parents knowing that their baby will very likely have autism—-make will be influenced by perceptions of a condition, of a disability; of the possibilities for treating and helping their future child; of their own understanding of a disability such as autism. And this is one reason that I seek out, and seek to foster, perceptions of autism that are true and that are full not of darkness and kaka, but of light and—to refer to an earlier post from today—the green of growing things.
Photo courtesy of AJR2006 via Flickr
A load of old bollox.
Genetic testing couldn’t tell a basilisk from a camelopard.
It seems to me that the concept of a genetic test for autism presumes that “autism” is a single condition, and in much of the posting you’ve been providing on this blog (and in the excellent work of many other bloggers, especially those providing a perspective on neurodiversity) there seems to be much evidence for a wide variety of “autisms” — indeed, the more I read, the more the notion of “spectrum” (with its essentiallly linear, one-dimensional metaphor) really seems inadequate… I think a two- or even three-dimensional metaphor would be more reflective of the diversity of experience that is collectively labeled “autism” (and at that point, we’re back to the “what counts as…” question[s]).
So I’d be skeptical that a single genetic test — or even a limited battery of tests — could really indicate “autism” unless the definition of “autism” were very much restricted or bracketed, and it doesn’t seem to me that this would be either likely or even desirable…
And indeed, if one is willing to entertain the notion that genetic predisposition is not the only factor in an autistic individual’s abilities, but that environmental (no, not necessarily mercury) or developmental factors can influence “ability to function”, then the genetic info would be of seriously limited use (as Kristina observes even of truly dangerous/lethal conditions such as cancer).
Of course, knowing about genetic predisposition to sensitivity to certain factors might be useful to parents seeking to protect their children from ill effects of those factors (for example, serious life-threatening/anaphylactic allergies to certain foods, etc). And here we’re coming dangerously close to the less dogmatic side of the “mercury/heavy metals” theory, which postulates a child’s ostensible genetic inability to remove heavy metals from the body, process toxins, etc…
It does seem to me that autism genetics will be complicated indeed—-that more than one gene might be involved, and that combinations of various genes might be involved. Then there is the issue of what exactly would be looked for as regard autism genetics…..
I had genetic counciling when I was expecting my 2nd child…….Due to the fact my 1st child had recently been diagnosed with AS.
The doctor told me there was a high chance that the baby I was carrying had autism also! Then proceeded to ask me if I wanted to terminate the pregnancy!
I must say, that at this point I was almost 20 weeks pregnant, feeling my baby move inside me!
I was horrified, walked out stating “I will get what I am given”.
Yes, both of my children have autism, and also my youngest has severe ADHD aswell, but would I be without them? NO!!!!!
I think a genetic test would be a dangerous thing, the media has managed to raise the public’s awareness of autism, but not always in a good way. So many delightfull children will not be born, So many valuable adults would not then exist!
I mean, come on………how many of us are perfect anyway? We are who we are!
And what is perfection anyways…….. What a question for that doctor to ask!
perfection……does it exist? I don’t think so. What a boring world it would be if everyone fitted perfectly into their societies expectations!
and that would be a huge danger if people made decisions from a genetic test!!!!
As M’s Dad points out, autism—”autisms”—has so many facets, a test would be complicated and complex in and of itself. My son is definitely perfect “as is.”
Maybe there is no autism gene. The word is going around that the reason for the recent spectacular jump in autism diagnosis is that it is fashionable. People don’t like to think they have mental illness. Also, mental illness is a defense against internal conflict, and people don’t like to threaten those defenses with enlightenment. Behavior modification is OK, but enlightenment is out.
So, since autism is supposedly a neurological defect–and all neurotic symptoms can fit nicely into an autism diagnosis (look at schizoid personality disorder or NPD for instance)– everybody demands to be diagnosed as autistic!
If you don’t mind my saying so, I’m not demanding it—there are many similiarities between my son and me, and some very real differences.