Genetic testing and diagnosing Autism

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Genetic testing and diagnosing Autism

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Some types of genetic testing that are sent out by a neurologist as part of the Autism diagnosis can be very difficult to decipher or understand. What we're learning today is that many children with autism have what we call copy number variance. So if we think of all of our genetic information as a book, for example, what we're able to do right now is read certain parts of the book and see if there are any errors are in the book. However, this becomes a tricky situation. As you can imagine, not all of our books are written the same way. That's why we all look different, have different personalities, strengths, and weaknesses. So when we see what we think is an error in the book in one of the sentences or on one of the pages, how do we know that's not just supposed to be there as part of that person's genetic make up? What we typically do if we find one of these unknown copy number variance, or an unknown error in the book, so to speak, is we'll send the same genetic test on both parents. That way if the same copy number variant, or the same difference, is seen in one or both of the parents, then we know that was not responsible for the child's symptoms, because the parents presumably do not have a diagnosis of autism. So we know that's part of that child's genetic make up. However if that copy number variant or difference is new to the child, then we enter in a databank. And as we collect more genetic information from more people, as we do this testing more often, we'll be able to hopefully pinpoint in the future that certain of these differences are associated with autism and certain ones are not. This is particularly challenging because there are of course also racial differences and you have to group the genetic information in that way as well. As our technology gets better with time, and as we collect more data from more children who are undergoing genetic testing, we'll be able to better pinpoint which differences in the testing are part of the child's genetic makeup, and which differences are possibly contributing to the autism diagnosis.

Watch Video: Genetic testing and diagnosing Autism by Jane Tavyev Asher, MD, ...

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Jane Tavyev Asher, MD

Division of Child Neurology - Cedars-Sinai Medical Center

Dr. Jane Tavyev Asher is a board certified Child Neurologist and Director of the Division of Child Neurology at Cedars-Sinai Medical Center.  Upon attaining her medical degree from Baylor College of Medicine, she completed residency/ fellowship training in Child Neurology and Neurodevelopmental Disabilities at Baylor College of Medicine/ Texas Children’s Hospital, where her clinical training focused on behavioral neurology, specializing in autism and other developmental disorders, and her research focused on epigenetic factors in autism.  She currently maintains a clinical practice at Cedars-Sinai Medical Center in Los Angeles, where she sees patients with a variety of neurologic conditions such as Autism Spectrum Disorders, developmental delay, ADHD, learning disabilities, tics, headaches, and cognitive/ behavioral management in neuromuscular disorders.  She holds an academic/ research appointment as Assistant Professor at UCLA in the Departments of Pediatrics, Psychiatry and Biobehavioral Sciences.  Her current research interest remains in the area of autism.  Dr. Tavyev Asher is proud to contribute to the training of the next generation of physicians including those specializing in Pediatrics, Child Psychiatry, and Child and Adult Neurology, and she enjoys giving talks on various neurologic topics locally and nationally.  She is a member of the Child Neurology Society, American Academy of Child and Adolescent Psychiatry, UCLA CART (Center for Autism Research and Treatment), and The Help Group-UCLA Autism Research Alliance.  She also serves on the Advisory Board of Healthy Child Healthy Child Healthy World.  She enjoys art, music, yoga, skiing, and relaxing with her family.

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Transcription: 
Some types of genetic testing that are sent out by a neurologist as part of the Autism diagnosis can be very difficult to decipher or understand. What we're learning today is that many children with autism have what we call copy number variance. So if we think of all of our genetic information as a book, for example, what we're able to do right now is read certain parts of the book and see if there are any errors are in the book. However, this becomes a tricky situation. As you can imagine, not all of our books are written the same way. That's why we all look different, have different personalities, strengths, and weaknesses. So when we see what we think is an error in the book in one of the sentences or on one of the pages, how do we know that's not just supposed to be there as part of that person's genetic make up? What we typically do if we find one of these unknown copy number variance, or an unknown error in the book, so to speak, is we'll send the same genetic test on both parents. That way if the same copy number variant, or the same difference, is seen in one or both of the parents, then we know that was not responsible for the child's symptoms, because the parents presumably do not have a diagnosis of autism. So we know that's part of that child's genetic make up. However if that copy number variant or difference is new to the child, then we enter in a databank. And as we collect more genetic information from more people, as we do this testing more often, we'll be able to hopefully pinpoint in the future that certain of these differences are associated with autism and certain ones are not. This is particularly challenging because there are of course also racial differences and you have to group the genetic information in that way as well. As our technology gets better with time, and as we collect more data from more children who are undergoing genetic testing, we'll be able to better pinpoint which differences in the testing are part of the child's genetic makeup, and which differences are possibly contributing to the autism diagnosis.