Consensus Statement on Clinical Genetic Testing

In a consensus statement published yesterday in the American Journal of Human Genetics, the International Standard Cytogenomic Array Consortium urged health care providers to make the chromosomal microarray (CMA) test standard practice for diagnosing children suffering from unexplained developmental disabilities, including autism. The Autism Consortium, which was involved in a study published last month demonstrating that this test is at least three times more effective that a karyotype in identifying genetic causes, hopes that this consensus statement will encourage more doctors to recommend the CMA to families, and that more insurance companies will cover the cost.

Traditional genetic testing, G-band Karyotype, identifies chromosomal duplications or deletions in about 3 percent of children suffering from unexplained developmental disabilities. CMA can increase that number to about 15 percent. By identifying the genetic abnormality, physicians may be able to determine which specialists need to be added to the team and how best to treat the patient.

There are many benefits for families to receive genetic testing:

• Genetic test results can confirm a genetic component to a child's ASD and allow families to more quickly access services.
• Using the test results, clinicians can employ the experiences of other children who have the same condition. For example, providers are able to alert families to potential medical conerns that may have occurred in children with the same or similar diagnoses. Using new information for preventive surveillance, medical concerns can be addressed before symptoms even appear.
• Finally, parents might be given a window into what to expect in their child's future. Working together, clinicians and researchers are sharing knowledge about what they are seeing as young children with ASDs pass through the developmental stages. They pass this along to parents of similar children so that time can be used to prepare and address challenges, and advocate for a child's anticipated needs.
• Genetic testing that identifies a specific cause for a patient's ASD diagnosis facilitates much more accurate genetic counseling about the chances for future children born to parents of a child with ASD would inherit the same genetic risk factor for ASD.

Finally, clinical genetic testing is adding important data to the body of knowledge that researchers are using to understand the genetics of autism.

The Autism Consortium agrees that the CMA should be part of the initial diagnostic evaluation of all patients with ASDs unless a genetic diagnosis has already been made.

To read the full consensus statement, please visit: http://www.cell.com/AJHG/fulltext/S0002-9297%2810%2900208-9

To read the Autism Consortium press release and full publication on Clinical Genetic Testing in ASDs, please visit:                             http://www.autismconsortium.org/press-releases/press-release-clinical-genetic-testing-in-asds.html