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.
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“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 consistency of health care and improve outcomes for patients with rare genetic disorders.”
Exome and genome sequencing are two methods used to analyze large amounts of DNA in order to identify genetic variations. The testing can potentially determine if a child has an identifiable condition, which “can lead to changes in management that will influence mortality, morbidity and reduce the burden on patients and families searching for answers,” the guidelines state.
Currently, the American College of Medical Genetics and Genomics notes that there is “considerable variability” in the use of diagnostic testing for individuals with congenital anomalies, developmental delay and intellectual disability. The guidelines will help all providers — both those in the genetics field and otherwise — to use and interpret exome and genome sequencing, they said.
The new recommendation does not speak to whether exome and genome sequencing should be used for individuals with autism alone, but notes that evaluation of the tests for those on the spectrum is ongoing.