Genetic Testing of Neurodevelopmental Disorders in Israel

What are the rates of genetic counseling and testing among children with major neurodevelopmental disorders in Israel, and do these differ across subpopulations?In this cohort study of 2 406 763 children, 1.06% were diagnosed with major neurodevelopmental disorders, with a 54% to 80% underdiagnosis of autism among those of low socioeconomic status and minority groups. Overall, 38.7% of patients indicated for chromosomal microarray analysis received genetic counseling, and 24.5% underwent testing; rates were similar across subpopulations.The overall underuse of genetic evaluation for neurodevelopmental disorders and the underdiagnosis of autism in certain subpopulations highlight the need for awareness and equity.

Corresponding Author: Dalit May, MD, PhD (dalitma1@clalit.org.il), and Dorit Shmueli, MD (jrdoritsh@clalit.org.il), Clalit Health Services, Medical Genetics Institute, Shaare Zedek Medical Center, Shmuel Beyth St 12, Jerusalem, Israel, 9103102.

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