Genetic Testing

[HaoZi]

Hibernator (who didn't have to be up early this morning but was anyway and might need a new name, lol) saw her pediatrician today. Yet another one that thinks the psychiatrist can diagnosis the kiddo in 15 minutes a months or less. Needless to say because of that view he wouldn't refer her to a neuropsychologist. He did, however, give her a referral for genetic testing.

I did some research on the Human Genome project, and it might not be out of the question to have the genetics show up propensity for ADHD, Asperger's and other Autism Spectrum Disorders (ASD), Pervasive Developmental Disorder (PDD), etc. Has anyone else had theirs go through this kind of genetic testing? The doctor he referred her to for this has a lot of experience in genetic research (20+ years) and has done a fair number of lectures and new research (yes, I googled the genetics doctor).

Thoughts? Yes I know anything that shows up in their testing will follow her forever.

 

[smallworld]

We have had genetics testing done to rule out Fragile X, Turners Syndrome, etc. We have also had testing done to determine how our son's liver metabolizes medications (genetic liver enzyme testing). Can you cite the specific genetics testing your doctor ordered?

 

[Marguerite]

Genetics testing is literally like looking for a needle in a haystack. If you know specifically what you are looking for (ie going in with a magnet to find tat needle) you have a better chance. But "genetic testing" is always specific. It doesn't happen yet, that we can have our personal DNA code assessed, sequenced and have someone say, "You have a tendency to develop this, a possibility for that, and by the way your eyes are blue, your hair is brown and you are tall."

Science just isn't there yet.

However, a genetics expert who is told of the range of problems that are concerning you, can run specific tests say, for Fragile X or for a general chromosomal abnormality (which takes time and very careful study down a microscope). There are a lot of conditions in existence for which we do not have genetic testing.

We had our boys tested for Fragile X. Tests were negative. It would have been wonderful if they could have done genetic testing for autism, or somehow used the results in some sort of study to compare results with other kids. But it doesn't work that way.

So find out exactly what can be done, then work out what you want done.

And the doctor who won't refer to a neuropsychologist is an idiot.

Marg

 

[SRL]

Typically when kids present with Autism Spectrum Disorders (ASD)-like symptoms it's only recommended if there's a suspicion of Fragile X, Wilson's Syndrome, Turner's Syndrome etc. Is your doctor suspecting anything along those lines?

This was the most recent news I had come up for Autism-related genetic testing. Did you find anything else?
http://blog.autismspeaks.org/2010/03/19/new-clinical-recommendations/

I think testing would be valuable if something specific like Fragile X turned up. If the doctor is just fishing for a result that shows " a propensity towards Austim", well, you already know that.

I'd only go ahead with it if I knew the results were being released to a doctor I trusted to handle whatever results well (or be prepared to change afterwards if needed), and under no circumstances would I sign a release to the school district or other general release form.

Why wouldn't he refer to a neuropsychologist? Maybe you just need to find a pediatrician who is on board with you.

 

[Fran]

I'm less worried about the truth(labels) following my child since his behavior speaks for itself than I am wondering what are you looking for and how would that affect the treatment plan?
Are you concerned about fragile X syndrome?

 

[HaoZi]

No, Fragile X is not on my list of worries. The office for the genetics testing isn't open Friday afternoons, so I didn't get to talk to them since I got the referral late Friday. Here's what I did find when I researched the human genome project:
http://www.ncbi.nlm.nih.gov/omim/143465
http://www.ncbi.nlm.nih.gov/omim/608638
http://www.ncbi.nlm.nih.gov/omim/612759

As I said, I also researched the doctor that runs the lab, and she's a genetic researcher with a lot of experience. Until I can call them Monday and get more information on what they can (or think they can) test for I won't know what they routinely screen for or have the capability to test for. If you want I can PM you the site for the lab/office and you can tell me what you think.

 

[BusynMember]

My son had genetics screening. He is going to have another one, more intensive.

Genetics screenings can not tell if your child has autism, Pervasive Developmental Disorder (PDD), bipolar, etc. It can only tell if they have a disorder where genes are irregular (which is not the case in those disorders). It's always worth a try. Fragile X is a genetic disorder that causes autistic symptoms. If this is one doctor, out of thousands, claiming she can pinpoint things like Pervasive Developmental Disorder (PDD) through genetics testing, then I would wonder if she is for real or kind of a quack...you'd think everyone would use this method if it were really available and helpful...good luck.

 

[HaoZi]

I'll be asking a lot of questions when I call their office. The research I linked to is just that - research. Not definitive for a diagnosis I don't think, but if something shows up as off then maybe it will net her more referrals to more specialists, right? I thought Fragile X was linked to Down's and similar? Kiddo is gifted, which is why I wouldn't have linked her to Fragile X, but if there's more to Fragile X then it may well be worth a closer look at.

 

[BusynMember]

Most kids with Fragile X have significant learning disorders.