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Autism Vox

Genetic Testing for Autism: Too Close for Comfort

by Kristina Chew, PhD on May 15th, 2006

I just found this test, Chromosomal Microarray Analysis (CMA), now offered by Baylor College of Medicine. I have not heard of it: What does everyone, anyone, know about this?

In a comment on a previous Autism Vox post, Bonnie Ventura of Aspergian Pride referred to prenatal genetic testing for autism as “eugenic abortion.”

Shudder.

Today is Charlie’s ninth birthday–and without this day to celebrate as Charlie’s Day, the world would be a far poorer, and far worse, place.

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Hsien Lei
May 16, 2006 at 12:06 am

Happy Birthday, Charlie! My! How you have grown! :) Wishing you all the most wonderful moments in the world.

As for the Baylor genetic test, it appears NOT to be a prenatal test but one that can be used to help with autism diagnosis where the symptoms are nebulous and hard to pin down.

Chromosomal Microarray Analysis will provide a major advance in the diagnosis of patients in which a genetic cause of disability is suspected but not confirmed by traditional methods.

I don’t know how solid the evidence is behind these tests but it’s one step forward toward personalized medicine tailored to a person’s genetic make-up.
Bonnie Ventura
May 16, 2006 at 4:50 am

Yes, Kristina, you are right, they are marketing it for prenatal diagnosis. I hadn’t heard of it before, either, but I googled it and found this:

http://www.bcm.edu/cma/prenatal.htm

I’m very glad you are blogging about this issue. We all need to speak up before it’s too late.
Hsien-Hsien Lei, PhD
May 16, 2006 at 4:58 am

Bonnie, I don’t believe they are marketing the CMA for autism as a prenatal diagnostic test. The page you linked to may have the autism CMA in the sidebar but it is a distinctly separate test. Please see my comment above for the specific paragraph that makes me believe that the autism CMA is for diagnosing current patients, not fetuses.

Also see my post at Genetics and Health for more info.

Not All Genetic Tests Are Prenatal
Hsien-Hsien Lei, PhD
May 16, 2006 at 5:10 am

Please also note that there is a page at Baylor for POSTnatal chromosomal microarray analysis.

http://www.bcm.edu/cma/postnatal.htm
Joseph
May 16, 2006 at 6:28 am

It’s hard to tell how accurate this test might be. It seems to include some of the new linkages in addition to Rett and so on. But the science is not at the point where autism can be predicted through genetics, so I seriously doubt this is accurate in any way.
Hsien-Hsien Lei, PhD
May 16, 2006 at 6:31 am

Joseph, I agree. CMA will definitely have to be used together with existing methods of diagnosis but it can often be helpful to have more information. Being able to group autism cases based on their genetic underpinnings could help to define more specific and more effective treatments.
Joseph
May 16, 2006 at 6:34 am

Prenatal CMA:
One standard fee of $1,900 is charged for prenatal CMA. The comprehensive charge includes testing on the maternal, fetal, and paternal samples. Please contact our genetic counselors at 800-411-4363 prior to prenatal sample submission.

It’s expensive, so I don’t believe it will be used extensively. In any case, despite accuracy issues, I’d say the next fight has officially started.
Hsien-Hsien Lei, PhD
May 16, 2006 at 6:36 am

Joseph,

You’re quoting the price for PREnatal CMA which is not the one for autism. The autism CMA being offered is for POSTnatal diagnosis in chidlren and adults.

Fro the POSTnatal FAQ:

How much does the test cost? Will insurance pay for the test?

CMA cost is $1,500. Payment in full is required at the time of sample submission. Insurance is filed as a courtesy when a Patient Insurance Verification Form is submitted. Insurance coverage is determined by the insurance company and depends on individual policy limitations and medical indications.
Joseph
May 16, 2006 at 6:45 am

Ok, I suggest boycotting CMA until they remove the Prenatal option from their site. That is, parents should not use the services of this site until they remove that option. I don’t think my son should’ve been aborted, and I’m sure other parents feel the same way. By having that option there, they are basically saying that our children should’ve been aborted.
Joseph
May 16, 2006 at 6:50 am

You’re quoting the price for PREnatal CMA which is not the one for autism.

That’s not clear at all from the site. They refer to everything as CMA. In any case, I don’t believe in pre-natal genetic testing for behavioral phenotypes.
Hsien-Hsien Lei, PhD
May 16, 2006 at 6:51 am

It appears that there is a great deal of confusion regarding whether CMA for autism is for PREnatal diagnosis of unborn fetuses or POSTnatal diagnosis of children and adults.

I have written directly to the Baylor Medical Genetics Labs to ask for clarification.

From what I have read, it is a POSTnatal (AFTER the child is born) genetic test.
Hsien-Hsien Lei, PhD
May 16, 2006 at 6:53 am

Joseph, You’re right that it is not at all clear from the site but based on my reading (I am a genetic epidemiologist not affiliated with Baylor), it appears to be a POSTnatal test. Since I have alerted them, perhaps they will make the necessary clarifications.
Hsien-Hsien Lei, PhD
May 16, 2006 at 6:56 am

May I add that to the best of my knowledge there is no sanctioned PREnatal testing currently available for autism precisely because the causes and risk factors are so poorly understood.

Current genetic testing for autism focuses on diagnosis of individuals already exhibiting symptoms.
Kristina Chew, PhD
May 16, 2006 at 8:17 am

Hsien, thanks for all all of your insights!

I think that ANY mention of genetic screening for autism raises, for very good reasons, a lot of alarm in the autism community. I need to research this, but have any studies been done if the numbers of individuals with Down’s syndrome has decline due to prenatal testing?

I guess I really feel that we have to do a lot to change the public understanding and perception of autism so that no parent would think of not having an autistic child.

As Baylor has a Christian affiliation, I think that its medical school working on pre-natal genetic testing of any kind would seem to be contradictory.
Hsien-Hsien Lei, PhD
May 16, 2006 at 8:45 am

I was totally spamming your blog there for a moment, Kristina! Try to think of it as adding content to your blog. :P

And, I would just like to point out that not all prenatal testing leads to abortion. Many times, knowing what to expect when it comes to having a special needs baby helps to prepare parents and gives them some time to do research so when the baby arrives, they know how to deal with any medical interventions, unique care, etc.

I’ll let you know if the Baylor genetics labs respond.
Kristina Chew, PhD
May 16, 2006 at 9:22 am

Always glad to hear from you, Hsien!

Prenatal autism testing is a loaded issue in autism circles, from what I’ve read—of course, prenatal autism screening need not result in abortion. I think the discussions tend to go that way because of discussions of prenatal testing for Down’s, and because of various autism organizations talking about “curing” and even “ending” autism.

Definitely would like to know if Baylor responds!
Julia
May 16, 2006 at 2:22 pm

I don’t have any figures handy, but my understanding is that the incidence of babies born with Down’s Syndrome has been going down with prenatal testing. (I can try to dig for numbers later.)

I know that if I had been in a risk group where amniocentisis was recommended, I would have gone through with the test, and if the results showed a child with Down’s, I would have started reading up and bugging someone I know on-line who has a daughter with Down’s. But I would not have aborted, because I understood at the time that with the right care, a person with Down’s could lead a fairly productive life and would probably be a nice person to have around anyway.

If only all that PR about autism had been more positive before we got our son’s diagnosis….
Autism Vox » Them’s Fighting Words 2: Genetic Testing, Prenatal
May 17, 2006 at 1:21 pm

[…] A few days ago, I posted about a genetic test for autism. As Hsien at Genetics and Health posted, “not all genetic tests are prenatal.” The genetic test I mentioned, Chromosomal Microarray Analysis (CMA), is not a prenatal genetic test for autism. […]
Autism Vox » “We must all play god when it comes to genetics”
May 19, 2006 at 8:54 am

[…] In light of the recent discussion here at AutismVox on a prenatal genetic test for autism, an article by Dr. Arthur Caplan, the director of the Center for Bioethics at the University of Pennsylvania, raises even more tough questions regarding prenatal genetic testing. […]
Mitzi
May 23, 2006 at 2:39 pm

re: Down syndrome and genetic testing, yes, numbers are way downbdue to prenatal testing. The abortion rate when DS is identified prenatally is 80-90 percent, mainly due to the apallingly poor quality of genetic counselling that is given with tests but also because we live in a society that pathologises difference. An excellent and well-researched explanation can be found here:
Hunt, Linda M. (2000) “Routine prenatal genetic screening in a public clinic: Informed choice or moral imperative?,” Medical Humanities Report, 22 (2). Online at: http://www.bioethics.msu.edu/mhr/01w/prenatalscreening.htm
There is a news story at http://www.cnsnews.com/ViewCulture.asp?Page=%5CCulture%5Carchive%5C200504%5CCUL20050405a.html with a pretty good round-up of the most recent studies on this topic.
Given that autism is usually painted as even more of a “catastrophe” than DS, I think prenatal testing is one of the greatest dangers we and our families face. After all, chances are all of us with autism in our families are “carriers” (horrid term).
Kristina Chew, PhD
May 24, 2006 at 11:57 am

Thank you so much for the references. What you write about Downs syndrome and genetic testing was my sense of the situation. And the notion of “us with autism in our familes as ‘carriers’” has come to my mind more than once—some of my relatives have ASD traits and others on my husband’s side of the family have other “stuff” (inelegant word). It makes me think, with a shudder, what if researchers came up with some “profile” of those more likely to be “carriers”—would a couple be told, be careful or you may have a child with…….
Autism Vox » Prenatal Genetic Testing for Autism: Two Perspectives
Aug 1, 2006 at 8:00 am

[…] I have posted before about how a prenatal genetic test for autism evokes a highly charged response in autism circles, to the point that the very term prenatal genetic test for autism can be considered a fighting words. Two fellow bloggers (and parents) provide some thoughtful commentary on this issue. […]
Autism Vox » Genetics and Autism Interview
Sep 14, 2006 at 8:16 am

[…] Via both our blogs, we experienced some confusion over genetic tests offered by the Baylor Medical Genetics Labs. How well would you say the general public understands the difference between genetic testing as an adjunct to treatment vs. prenatal testing? […]
Autism Vox » Genetic Testing: Let the buyer beware
Feb 17, 2007 at 11:00 pm

[…] Right now, there is no prenatal genetic testing available for autism, but there is genetic testing. Back in May 2006, I posted about Chromosonal Microarray Analysis (CMA), which (according to this information from Baylor College of Medicine) has “advantages for testing for disorders manifesting autistic features.” Some discussion ensued among commenters about what this genetic test was for; it was not clear if this test could or could not be used for prenatal genetic testing for autism. The CMA webpage now clearly states that “CMA is not a general test for autism. CMA is not appropriate as a prenatal test for autism.” […]
donna middaugh
Jan 11, 2008 at 6:51 am

Our family has participated in the genome project for the past 15 years. It only occurs to me now that we may have contributed to a kind of eugenic selection. I have mixed feelings about being part of the study. Had there been a prenatal test for autism I would almost certainly aborted. That would have been a huge mistake. Like most parents, I can’t imagine my life without my “litttle bundle of pathology”. He is the most beautiful person I have ever known.
Kristina Chew, PhD
Jan 11, 2008 at 12:32 pm

@donna, My once little now so big “bundle” — what would I do without him!

Have any parents or other participants in the study communicated these concerns to the scientists? I am very interested in finding out more about the genetics of autism and of thinking of how this knowledge can be used ethically, and wisely. And carefully.