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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.
Acta Paediatrica (Oslo, Norway : 1992)
|December 28, 2017
Summary
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.