CHU Sainte-Justine Research Center, Montréal, QC, Canada.
Department of Psychology, CHU Sainte-Justine, Montréal, QC, Canada.
Acta Paediatr. 2018 May;107(5):838-844. doi: 10.1111/apa.14203. Epub 2018 Jan 24.
To investigate paediatricians' expectations and perspectives of genetic testing for children with developmental disorders.
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.
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.
Paediatricians generally expect many positive and less negative impacts of genetic testing for children with developmental disorders. Parental perspectives are needed.
调查儿科医生对发育障碍儿童进行基因检测的期望和看法。
每次为发育障碍儿童开染色体微阵列（CMA）检查时，对在发育诊所工作的儿科医生进行调查。回顾临床病历。使用混合方法分析结果。
完成了 97%（73/76）的调查。儿科医生报告称，36%的家长在理解基因检测方面有困难，40%的家长似乎感到焦虑。大多数人期望检测对儿童/家庭产生积极影响。提出的主题包括：（i）明确诊断（56%）、（ii）了解病情的病因（55%）、（iii）能够进行产前诊断/咨询（43%）、（iv）改善儿童的医疗护理（15%）和（v）减轻父母的内疚/焦虑（8%）。不到一半的人预计会有负面影响；74%的人预计对他们的患者最有帮助的结果是异常结果，能解释疾病。在为 73 名儿童开 CMA 检查的情况下，81%的儿童接受了检查：66%的结果正常，19%的结果异常并有助于解释病情，12%的结果异常但意义不明。
儿科医生普遍期望对发育障碍儿童进行基因检测会产生许多积极影响，较少产生负面影响。需要了解家长的看法。
