Paper Outlines Approach to Genetic Diagnosis in Autism (N...

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Paper Outlines Approach to Genetic Diagnosis in Autism (Newswise)

Newswise — A practical, stepwise approach to diagnosing genetic causes of autism and related disorders is proposed in the January issue of Genetics in Medicine, official journal of the American College of Medical Genetics (ACMG), published by Lippincott Williams & Wilkins.

The three-tiered approach will yield a specific genetic diagnosis in approximately 40 percent of patients with autism-spectrum disorders, according to the report. The new approach was developed, based on the best available research evidence, by Drs. G. Bradley Schafer of University of Nebraska and Nancy J. Mendelsohn of Children's Hospitals and Clinics of Minnesota.

The number of patients diagnosed with autism-spectrum disorders—including "classic" autism as well as related disorders such as Asperger's syndrome and Rett syndrome—has increased dramatically in recent years. Despite strong evidence that autism is primarily a genetic disorder, diagnosis is still based mainly on behavioral factors. Clinical geneticists are challenged to provide the best possible genetic diagnosis and counseling services for patients and families affected by autism, even as research knowledge of the causes of autism—genetic and otherwise—continues to increase.

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I fail to see the value of this.

More of that beware of big headed girls stuff. The Chinese say skinny necked women are unfaithful.

If you pass tests for autism, other causes are ruled out, it runs in your family, we might have a 40% chance of predicting it in your children.

It only costs $10,000 and your insurance will pay for it, until they drop you.

It seems this Profession is carving some economic space for themselves, for with more study, they can be wrong 60% of the time.

It sounds like someone who got a Degree in Cosmic Waves Affecting Fine Art, and now think artists should pay them to study their work.

Astrology has a higher hit ratio.

The number of patients diagnosed with autism has increased dramatically in recent years, since it was put in the DSM.

Before that Dr. Freeloader said it was Freeloader Syndrome, and Dr. Quack said it was Imaginary Geek Disorder.

The American College of Medical Genetics hopes it will cure their unemployment rate.

No one is willing to pay for speculation about what might be genetic, when there is no treatment, even if like a stopped clock, they were right twice a day.

Dr's Freeloader and Quack are awaiting trial, and The American College of Medical Genitics is three months behind in their $200 a month office rent.

They sit beside major stoplights with hand lettered cardboard signs that say, "Will run Clinical trials for food."

I wish I could understand this article better. Apparently they are trying to systemize the diagnosis process. They want to start with a behavioral screening and add a genetic screening and an MRI. That sounds very, very expensive. I doubt it is going to happen.

Well, I guess it's a start. 40% is a pretty awful number, but that'll improve. Where I see the value in this is the potential for the future. You have to start somewhere, if we can reach 95% plus, and an affordability that allows testing of all infants, this could be incredibly useful - you could get kids into therapy very early on, which would be a fantastic development. Right now, it's not a lot of use, but I do think if they can manage this, they'll improve over time.