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Paediatricians’ expectations and perspectives regarding genetic testing for children with developmental disorders
Author(s) -
Tremblay Isabelle,
Laberge AnneMarie,
Cousineau Dominique,
Carmant Lionel,
Rowan Anita,
Janvier Annie
Publication year - 2018
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/apa.14203
Subject(s) - medicine , anxiety , etiology , genetic testing , genetic counseling , pediatrics , psychiatry , clinical psychology , genetics , biology
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.