New Genetic Test More Effective at Diagnosing Autism?

Researchers at the Children’s Hospital Boston and Autism Consortium have found that a new genetic test, Chromosomal Microarray Analysis (CMA), is three times better at detecting chromosomal abnormalities related to autism than other standard tests.

The research team assessed the diagnostic value of CMA in the largest cohort to date — 933 patients with a clinical diagnosis of ASD (by DSM-IV-TR criteria) who received clinical genetic testing in 2006, 2007 and 2008.

Testing included the two currently used tests (G-banded karyotype and fragile X), as well as CMA. When the researchers compared the tests’ diagnostic yield, they found:

• Karyotyping yielded abnormal results in 2.23 percent of patients
• Fragile X testing was abnormal in 0.46 percent
• CMA results were judged to be abnormal in 7.3 percent of patients when the entire length of the chromosomes (the whole genome) was sampled.

The researchers believe that using CMA as a standard test for autism will lead to more accurate diagnosis and early intervention for individuals afflicted with Autism Spectrum Disorders (ASD). Establishing a genetic basis will also help parents determine the possibility of having another child with autism. The full article includes contact details for families interested in scheduling an appointment at Children’s.

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