Genetic testing among Spanish pediatric neurologists: Knowledge, attitudes and practices

Area of Science:

• Pediatric Neurology
• Clinical Genetics
• Neurodevelopmental Disorders

Background:

• Genetic testing advances improve etiological diagnosis for pediatric neurological conditions.
• Understanding child neurologists' perspectives on genetic testing is crucial for optimizing its application.

Purpose of the Study:

• To investigate Spanish child neurologists' knowledge, attitudes, and practices regarding genetic testing.
• To identify the most common indications and types of genetic tests used in child neurology.

Main Methods:

• A survey was administered to 118 child neurologists in Spain.
• Participants reported on their recent genetic test requests (within the past six months).
• The survey explored perceptions of readiness for genetic-related decision-making.

Main Results:

• Genetic testing was most frequently requested for global developmental delay/intellectual disability and autism spectrum disorders.
• Chromosomal microarray (CGH-array) was the most commonly requested genetic test.
• Most neurologists felt prepared for genetic decisions but desired enhanced support from geneticists and more genetics education.

Conclusions:

• Child neurologists are actively utilizing genetic testing, particularly for neurodevelopmental disorders.
• There is a need for increased collaboration between child neurologists and geneticists.
• Integrating more genetics into continuing education programs is essential for child neurologists.