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Wednesday, November 11th, 2009

Not All Genetic Tests are Prenatal

May 16, 2006 by Lei  
Filed under Health

With recent news of the UK approving more uses of pre-implantation genetic diagnosis (PGD) to identify embryos carrying the BRCA and HNPCC genes, prenatal genetic testing must also be on everyone’s minds. Perhaps now is a good time for a reminder that not all genetic testing involves eggs, sperm, embryos, and fetuses.

Kristina at Autism Vox mentioned a genetic test for autism offered by the Baylor College of Medicine – Chromosomal Microarray Analysis. If I’m not mistaken, I think Kristina thought it was for prenatal “diagnosis” of autism. Several readers of Autism Vox thought it was for PREnatal “diagnosis” of autism when it is for POSTnatal use. Given the complex nature of autism, specific genes have not yet been identified that increase the risk of autism significantly and that would be of value in a prenatal testing environment.


The genetic test offered by the Baylor College of Medicine is for assisting in the diagnosis of children and adults who seem to have autistic symptoms but are difficult to diagnose.

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.

Although prenatal genetic testing is fraught with controversy, I think the use of genetic tests to enhance diagnosis and treatment should be more clear cut (I’m sure many would disagree). It is the aim of personalized medicine to find the medical approaches that are suited specifically to our unique needs as determined by genes and other factors. Eventually, genetic tests will be routine not just for expecting parents, but for all of us.

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Comments

9 Responses to “Not All Genetic Tests are Prenatal”
  1. Kristina says:

    Hi Hsien!

    Thanks for this.

    I didn’t think the Baylor test was a prenatal genetic test, though some readers of the website might be misled about that.

    Nonetheless, genetic testing is a controversial topic in autism discussions, especially among autistic adults, I think. Sites like yours, with their thoughtful and informed perspective, provide the insights that we all need.

    Hope you don’t mind if I post more about these kinds of tests at AutismVox.

  2. Kristina: I would love it if you would post more about it because there seems to be a lot of misperceptions about genetic tests and how they can be used (and misused). The key point I think people need to remember is that for most complex diseases like autism, only the media is eager to declare the use and availability of prenatal tests. Medical professionals and families are understandably leery.

  3. Kristina says:

    I will, and I really need your help in this area, needless to say!

    Genetic testing is a “fighting word” in autism discussions, esp. among autistic adults who immediately connect it with eugenics. But as a parent I wish very much that we had known earlier about Charlie having autism. Looking back, there were plenty of signs when he was 10 months and younger and I wish we could have started specialized therapy for him. Not to “cure” him, at all, but to help him.

    Thanks again—

  4. Judson says:

    Don’t forget the multitude of genetic tests for acquired abnormalities (cancer). I don’t think it really gets overlooked, but the area is so different it’s not usually in the same conversation.

  5. Judson: Yup, you got it! Genetic tests have quite a few uses and to only think of it in terms of prenatal testing, abortions, etc. ignores all the potential they hold for improving our health.

Trackbacks

Check out what others are saying about this post...
  1. [...] 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. [...]

  2. [...] This week’s hot button topic was all about prenatal testing so I’ll just round out the discussion with this week’s genetics quiz question: [...]

  3. [...] What I’ve repeatedly said here about genetics research on controversial diseases, disorders, or characteristics is that it is not about the elimination of “undesirable” people from the population. Genetic testing isn’t always about prenatal diagnosis and abortion. Certainly, there are some who believe in eugenics but the majority of scientists are looking for genetic information that enhances diagnosis and treatment. [...]

  4. [...] 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? [...]



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