Paediatricians underuse recommended genetic tests in children with global developmental delay

Area of Science:

• Medical Genetics
• Paediatrics
• Clinical Practice Guidelines

Background:

• Global developmental delay (GDD) affects children's development, necessitating accurate diagnostic tools.
• Genetic testing plays a crucial role in identifying the underlying causes of GDD.
• Understanding paediatricians' current practices and knowledge regarding genetic testing for GDD is essential for improving care.

Purpose of the Study:

• To evaluate the utilization of genetic testing among paediatricians for children diagnosed with GDD.
• To assess paediatricians' awareness of existing clinical guidelines for genetic testing in GDD cases.
• To identify factors influencing the decision-making process for ordering genetic tests in children with GDD.

Main Methods:

• A questionnaire was developed and administered to Quebec paediatricians evaluating children with GDD.
• The survey assessed the frequency of genetic test orders and familiarity with relevant guidelines.
• Descriptive and statistical analyses were conducted on the collected data.

Main Results:

• A significant majority of eligible paediatricians (93.6%) ordered genetic tests for GDD, including Fragile X testing, karyotyping, and chromosomal microarray.
• Fewer than half (31.9%) were familiar with guidelines for genetic testing in GDD.
• Ordering patterns varied based on clinical presentation, with higher rates for GDD with dysmorphic features, microcephaly, or fetal alcohol exposure compared to isolated GDD.

Conclusions:

• While paediatricians commonly use genetic testing for GDD, their knowledge of and adherence to guidelines are suboptimal.
• There is a clear need for enhanced and updated training on genetic testing for GDD within paediatric residency and continuing medical education programs.
• Integrating current knowledge on genetic testing into paediatric training is vital for optimizing diagnostic strategies for children with GDD.