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A new recommendation from a leading medical association is urging children with intellectual disability, developmental delay and other congenital anomalies to undergo genetic testing.
The American College of Medical Genetics and Genomics put out its first-ever clinical guidelines this month looking at the use of exome and genome sequencing in this population. The professional organization, which is made up of medical geneticists, said the testing is “strongly recommended” as a first or second-tier test for children with congenital anomalies that onset by age 1 as well as those with developmental delay or intellectual disability that occurs by age 18.
The guidelines published in the journal Genetics in Medicine are the result of an evidence-based review that was initiated in 2017, findings of which were published in 2020.
“Our committee included 10 experts in clinical genetics, neurogenetics, genetic counseling, a parent and advocate and methodologists,” said Dr. Fuki Marie Hisama and Dr. Murugu Manickam, who co-chaired the working group responsible for the recommendations, in a joint statement. “We expect this (evidence-based clinical practice guideline) will help to raise the quality and...