genetic test for autism

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It's been a while since the study came out, especially in Canada where it was big news, that mapped the genes responsible for autism, 'succeptibility genes' as they call them. What I've been wondering is if anyone has heard about this test being available anywhere to the public.

http://www.citynews.ca/news/news_7975.aspx


http://www.ctv.ca/servlet/ArticleNews/s ... e=&no_ads=

I wonder if this answers the question. I just found it (after I posted the first part). I'm not being coy

How Much is Your Genome Worth To You? A Thousand Bucks?
Feb 22nd 2008
By G. Xavier Robillard
Health Highbrow

The squad of bio-dorks at 23andMe (the name indicates the number of chromosome pairs in the human genome) have introduced a spit kit you can use to send them a sample of your DNA. The service (for $999) claims to construct a genetic map of some 600,000 data points about your own personal genome.

Why would I want to know that? Genetics can answer many of life's pressing questions, like if you're at risk for heart disease, or if you inherited from Mom and Dad the ability to smell asparagus in your pee.

Once you've signed up for the service, you get access to the Gene Journal (Dear Diary, my guanine and cytosine pair just broke up), an Ancestry Section, which may tell you once and for all if the milkman is your father, and the Genome Lab, which will tell you precisely what these mad scientists are doing with your genes once they've gotten a hold of them.

What I'm curious about are the genes that are present in a cell. Some are turned on and some are turned off. So, if a person was mainstream normal, their cells could be full of really strange things that are turned off but, maybe, can be flipped on in their kids.

http://ghr.nlm.nih.gov/handbook/howgeneswork/geneonoff

I wondered about that because my daughter acts as wary and alert as a very smart wild animal, as opposed to a very smart golden retriever. So it made me wonder if, as we had to live in more and more crowded situations, our feral genes started being turned off but they're always still there.

The article leads off saying, "A rare genetic variation dramatically raises the risk of developing autism..." Then, a few paragraphs later says, "the gene glitch they've identified accounts for another 1 percent of cases." In other words, assuming they can even compute the 1% with any confidence, that it's another small piece in a large puzzle. The article also mentions, "only about 10 per cent of autism cases have a known genetic cause."

It's really hard to know where things are at or just how important a particular announcement is from a news blurb. The study itself would help a lot. All of the more recent studies in this area would allow for a more comprehensive understanding. But the sentences in the news story don't seem to be convincing that this is a major new development. More, another incremental step in improving our knowledge, some of which may explain some cases.

Autism, and I'm speaking more from the less-argumentative aspects of those fitting into the lower functioning area here where identification of associated behaviors probably more consistent is today's version of the 19th century's "consumption" illness. Limited kinds of observations organized into limited kinds of categories, one of which was called "consumption," but where the actual underlying causes were quite different. It took many decades to develop the necessary theories (first, of disease itself; then of a great many other refinements to medical theory) so that we could figure out what in the heck _to_ observe, at all, in order to begin to distinguish the issues. Let alone, offer some kind of intelligent remedies.

We have one child who is diagnosed profoundly autistic, 23, and another child who is diagnosed high functioning autistic. My wife has an informal diagnosis from a psychologist, arrived at from visits for different reasons. I am on the spectrum, as well, but do not have a diagnosis. We participated in several national scale blood studies some years back, where they took the parents' blood along with the blood of all three of our children. (We were selected for the studies because [1] we knew friends working at a teaching hospital who happened to be aware of the studies, and [2] we fit the criteria because we had two children identified as autistic. Not because of me or my wife showing any signs.) It took almost two years before we got the results back -- as they had promised. What shocked me, is that they reported that my factors suggested an 87-times higher probability of my being autistic than the public, at large. I had the highest score in my family. My profoundly autistic daughter had the next highest score, but it was in the 30-times area.

Becky's comments about genes being activated or deactivated is also additionally complicated a bit in females, if I recall correctly. Females have two X chromosomes, but only one of them is activated in each cell. Not always the same one, though. (See: X chromosome deactivation.) So, while in males they only have one X and it must be active, in females each cell turns off one of the two X chromosomes, and it may be the proportion of one versus the other that leads to increased or decreased observational "issues" in the end. For example, Rett syndrome is pretty much only observed in females because males die before being born, depending only upon the X chromosome they have which carries the defect, while females can often live, but with widely varying degrees of problems since the proportions of defective X chromosomes that are activated varies between individuals. Of course, that applies both to inherited genetics as well as random mutations, if on the X chromosome.

But the bottom line is that I'm not sure if the article announces something dramatically significant. It seems like it is one step of a great many, to me. But maybe I'm wrong. I've only seen the occasional report and probably don't know how to put it into context. Sadly, as I read it the article doesn't do that very well, either. But it does seem to hype up the idea a lot.

Jon

Thank you both for all the rich information, Its really giving me a lot to think about for a while.

I remember way back last year when the story came out in Canada, it was all over the news and we had local coverage of a family they talked to who had two high functioning Aspergers boys. The parents were completely normal but because all their children were on the spectrum they tested them all and found the ‘autism gene’. I remember being just fascinated with the story. They seemed like a beautiful family, the kids were very happy and intelligent.

I just think without a clear diagnosis, many can become extremely alienated, angry and isolationist. I know people who have the attitude for instance, of being incredibly indignant every time someone doesn’t do things one way, or explain all asperger sensitivities and differences from others by saying, in highly philosophical terms but basically – I don’t fit in with this world because I’m a superior being and I don’t like being around you or you… therefore you must be bad or people so they must all be bad in general etc… it goes on and on, these rationalizations. If people could see things in terms of something as basic as the difference is in the genes... it could save people from spending a lifetime pretending to be something they are not or justifying every behavior with other strange reasonings. I think it’s confusion about the self that leads much aggression in people.

There is a part of me that gets very narrow minded (like Gattica) thinking that genetic testing could be the answer to all of this and I know that is a fault as soon as I examine it logically, because as we know Gattica also portrayed a very rigid and flawed society that took it too far, in terms of actually screening to prevent certain births at all, not just to understand them. I also remember from Victorian literature classes, the terrible reality of craniology, finding physical reasons however advanced, to label and judge a person also takes away any dignity or sense of independent self and thought from them as the mysterious human beings they are. Maybe it is the apsergers part of myself that just wants to shine the light of clarity on everything, come up with percentages, even though, as Jon's story proves, this is impossible, in terms of real life realities sometimes.

It was my hope that such testing could lead to self awareness and understanding from others and save many from undergoing such a long, arduous and complicated battle of wills, at places of employment for instance. It would remove the ‘ego’ from the whole interrelational dynamic and also people who are different would not feel they have personally failed when they cannot adapt to certain circumstances. But then again it could put it back in again in different ways. It could make things worse or become an excuse for leaving families and basic moral obligations such as basic social caring for others.

I understand the limitations of science and that yes, thinking in terms of the results can probably be just as much misleading or inaccurate at times. It is actually very shocking to me that the percentages came out the way it did for your family, Jon.

Also the previous analogy to 19th century consumption is very interesting, I never thought of that. I know people often identified autistic traits in feral children, which reminded me of OregonBecky's comments about her alert daughter, maybe because autistic kids are god at imitating creatures as well. I only know about consumption from literature, but it seems consistent because it’s a condition that appears and reappears and keeps one from parties. Also things like “nerves” etc… which maybe women or the wealthy could get away with more easily.

On autism spectrum people saying that they're superior, it's a very common and natural reaction of an oppressed minority to react by looking for ways that they're better than the ones who control the status quo. Idon't think it's bad. I gives a lot of people some need empowerment to defend their place in the world.

Being mainstream normal is way overrated. I don't want to look like my female peers, anyways. :O)