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Paediatricians' expectations and perspectives regarding genetic testing for children with developmental disorders
Isabelle Tremblay1,2,3,4,5, Anne-Marie Laberge1,3, Dominique Cousineau4,6,7
1CHU Sainte-Justine Research Center, Montréal, QC, Canada.
Insights
Paediatricians anticipate positive outcomes from genetic testing for children with developmental disorders, such as clarifying diagnosis and etiology. However, parental understanding and anxiety regarding genetic testing require further investigation.
Area of Science:
- Medical Genetics
- Developmental Pediatrics
- Clinical Psychology
Background:
- Genetic testing is increasingly utilized for children with developmental disorders.
- Understanding healthcare provider perspectives is crucial for effective implementation.
Purpose of the Study:
- To explore paediatricians' expectations and perspectives on genetic testing for children with developmental disorders.
- To identify perceived benefits and challenges associated with genetic testing in this population.
Main Methods:
- Survey of paediatricians in a developmental clinic ordering chromosomal microarray (CMA).
- Mixed-methods analysis of survey data and clinical chart reviews.
- Data collected during the ordering of CMA for children with developmental disorders.
Main Results:
- Most paediatricians expected positive impacts from genetic testing, including diagnostic clarification and understanding etiology.
- A significant proportion of parents experienced difficulties understanding genetic testing and reported anxiety.
- Chromosomal microarray testing yielded explanatory abnormal results in 19% of cases, with 12% being of unknown significance.
Conclusions:
- Paediatricians generally hold optimistic views regarding the benefits of genetic testing for children with developmental disorders.
- Addressing parental comprehension and anxiety is essential for optimizing the utility of genetic testing.
- Further research should incorporate parental perspectives to provide a comprehensive understanding.
Aim:
To investigate paediatricians' expectations and perspectives of genetic testing for children with developmental disorders.
Methods:
Paediatricians working in a developmental clinic were surveyed each time they ordered a chromosomal microarray (CMA) for a child with developmental disorders. Clinical charts were reviewed. Results were analysed using mixed methodology.
Results:
Ninety-seven % (73/76) of surveys were completed. Paediatricians reported that 36% of parents had difficulties understanding genetic testing and that 40% seemed anxious. The majority expected testing to have positive impacts on children/families. The themes raised were (i) clarifying the diagnosis (56%), (ii) understanding the aetiology of the condition (55%), (iii) enabling prenatal diagnosis/counselling (43%), (iv) improving medical care for the child (15%) and (v) decreasing parental guilt/anxiety (8%). Less than half anticipated negative impacts; 74% expected that the most helpful result for their patient would be an abnormal result explaining the disorder. Among the 73 children for whom CMA was ordered, 81% got tested: 66% of the results were normal, 19% were abnormal and contributed to explain the condition and 12% were abnormal but of unknown significance.
Conclusion:
Paediatricians generally expect many positive and less negative impacts of genetic testing for children with developmental disorders. Parental perspectives are needed.