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Pediatric Neurologists' Decision-Making Regarding Genetic Testing for Patients with Developmental Delay/Intellectual Disability: A Nationwide Survey in Japan

Clinical Genetics and Therapeutics
  • Primary Categories:
    • Clinical- Pediatric
  • Secondary Categories:
    • Clinical- Pediatric
Introduction:
Advances in genetic analysis technology have led to an increasing number of genetic diagnoses in cases of developmental delay/intellectual disability (DD/ID). However, the decision to perform genetic testing often depends on individual physician policy, and access to genetic testing varies by country and region.

Methods:
Japanese pediatric neurologists participated in an online survey conducted in February and March 2023 to investigate their attitudes toward genetic testing for DD/ID.

 

Results:
The survey included 266 pediatric neurologists, 41 of whom were clinical geneticists. G-banding was the most common first-line genetic test for DD/ID in Japan. In DD/ID cases without physical or behavioral abnormalities, 30% of pediatric neurologists indicated that they would not perform genetic testing, compared to 15% of clinical geneticists. Clinical geneticists were more likely than pediatric neurologists to perform genetic testing even when DD/ID was associated with behavioral or physical abnormalities.

Conclusion:
Wider use of genetic testing for DD/ID requires a standardized testing policy, especially for non-genetic specialists. This finding underscores the importance of collaboration between pediatric neurologists and clinical geneticists in optimizing genetic testing for patients with DD/ID.

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