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Genetic counseling and testing rates for neurodevelopmental disorders (NDDs) are low, especially in minority groups. Many patients receiving genetic counseling do not undergo testing, highlighting access and awareness gaps.

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Area of Science:

  • Medical Genetics
  • Pediatrics
  • Public Health

Background:

  • Genetic testing, including chromosomal microarray analysis (CMA), is crucial for diagnosing neurodevelopmental disorders (NDDs) like autism and intellectual disability.
  • Despite advancements, clinical use data for genetic testing in NDDs remain limited.
  • Understanding genetic counseling and testing rates is essential for improving diagnostic pathways.

Purpose of the Study:

  • To evaluate the rates of genetic counseling and testing in patients diagnosed with major neurodevelopmental disorders (NDDs).
  • To analyze the clinical and sociodemographic characteristics associated with genetic counseling and testing uptake.
  • To identify disparities in access to genetic services for individuals with NDDs.

Main Methods:

  • A longitudinal, retrospective, population-based cohort study using electronic health records from Clalit Health Services in Israel.
  • Analysis included individuals born between 2000 and 2020 diagnosed with major NDDs (autism, intellectual disability, global developmental delay, epilepsy, cerebral palsy).
  • Outcomes measured included rates of genetic counseling, CMA testing, and NDD diagnosis.

Main Results:

  • Of 25,403 individuals with major NDDs, only 38.7% received genetic counseling and 24.5% underwent CMA testing.
  • Genetic testing rates were higher for multiple co-occurring NDDs (36.9%) compared to autism alone (21.2%).
  • Autism diagnosis rates were significantly lower (54%-83%) in lower socioeconomic status and minority populations, impacting access to genetic services.

Conclusions:

  • A substantial proportion of patients referred for genetic counseling did not proceed to testing.
  • Significant disparities exist in autism diagnosis and access to genetic services for lower socioeconomic status and minority populations.
  • National initiatives are needed to enhance awareness and equitable access to genetic counseling and testing for all NDDs.