McKay Victoria, Efron Daryl, Palmer Elizabeth E, White Susan M, Pearson Chris, Danchin Margie
Department of General Medicine, Royal Children's Hospital, Melbourne, Victoria, Australia.
Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
J Paediatr Child Health. 2017 Jul;53(7):650-656. doi: 10.1111/jpc.13523. Epub 2017 Apr 27.
Chromosomal microarray (CMA) is an important diagnostic test for children with multiple congenital anomalies or certain developmental behavioural problems suggestive of an underlying genetic diagnosis. However, there are medical and ethical complexities to its use and few Australian policies to guide practice. We aimed to describe the current practice of Australian paediatricians in relation to CMA testing. We hypothesised that there are knowledge gaps in their use of CMA.
Online survey completed between September 2015 and January 2016 by paediatricians in secondary care settings. Participants were members of the Australian Paediatric Research Network. One hundred and sixty five (43%) of 383 active members responded. Our main outcome measures comprised: (i) the indications for which paediatricians request CMA; (ii) their approach to consent; (iii) their interpretation of results; and (iv) their understanding of the impact on patient management.
A significant proportion of paediatricians (21-52%) did not regularly use CMA for conditions with established evidence of diagnostic yield. Paediatricians under-estimated the potential for CMA findings to alter patient management. There was wide variability in paediatricians' approach to consent, and low use of consent forms and fact sheets. Paediatricians reported difficulties interpreting CMA results, with high rates of referral to clinical genetics services.
The reported practice of Australian paediatricians is not consistent with international standards on CMA. Australian practice could be improved by a standardised approach to ordering CMA, consenting patients and interpreting results. We provide resources for CMA ordering and make recommendations about preparation for next generation sequencing.
染色体微阵列分析（CMA）是针对患有多种先天性异常或某些提示潜在遗传诊断的发育行为问题儿童的一项重要诊断测试。然而，其使用存在医学和伦理复杂性，且澳大利亚几乎没有指导实践的政策。我们旨在描述澳大利亚儿科医生在CMA检测方面的当前实践情况。我们推测他们在CMA的使用上存在知识差距。
2015年9月至2016年1月期间，对二级医疗机构的儿科医生进行在线调查。参与者为澳大利亚儿科研究网络的成员。383名活跃成员中有165名（43%）做出了回应。我们的主要结果指标包括：（i）儿科医生要求进行CMA检测的指征；（ii）他们的知情同意方式；（iii）他们对检测结果的解读；以及（iv）他们对检测结果对患者管理影响的理解。
相当一部分儿科医生（21%-52%）没有针对已证实具有诊断价值的疾病定期使用CMA。儿科医生低估了CMA检测结果改变患者管理的可能性。儿科医生在知情同意方式上差异很大，同意书和情况说明书的使用率很低。儿科医生报告在解读CMA结果方面存在困难，转诊至临床遗传学服务的比例很高。
所报告的澳大利亚儿科医生的实践与CMA的国际标准不一致。通过采用标准化的CMA检测申请、患者知情同意和结果解读方法，可以改进澳大利亚的实践。我们提供了CMA检测申请的资源，并就下一代测序的准备工作提出了建议。
