Godfrey Emma, Clark Phillipa
School of Medicine and Surgery, University of Birmingham, Birmingham, UK.
Acta Paediatr. 2014 Jun;103(6):574-7. doi: 10.1111/apa.12601. Epub 2014 Mar 17.
Chromosomal microarray testing (CMA) generally aids paediatric genetic diagnosis. However, pre-CMA counselling is important as results can be ambiguous, generate uncertainty and raise ethical issues. We developed standards for counselling and giving families results; using these we evaluated practice for children seen by the Auckland Developmental Paediatric team in 2011. Pretest discussion was documented in 14 of 28 subjects and potential outcomes in 4of 28. 8 of 28 received information leaflets, 1 of 28 gave signed consent. 3 of 3 with abnormal results and 4 of 5 with variants of unknown significance (VOUS) were offered clinical genetics referral. 8 of 20 families with normal results were written to; two with abnormal results were informed face-to-face and one in writing; most VOUS were communicated by phone, voicemail or letter.
CMA testing requires clear patient information sheets and in-depth pretest discussion for informed consent, timely feedback of results and genetics referral as appropriate. Authoritative guidelines and training are needed to strengthen CMA counselling.
染色体微阵列检测（CMA）通常有助于儿科遗传诊断。然而，进行CMA检测前的咨询很重要，因为检测结果可能不明确，会产生不确定性并引发伦理问题。我们制定了咨询标准以及向家庭告知检测结果的标准；利用这些标准，我们评估了奥克兰发育儿科团队在2011年接诊儿童的相关诊疗情况。28名受试者中有14名记录了检测前的讨论内容，28名中有4名记录了可能的检测结果。28名中有8名收到了信息传单，28名中有1名签署了知情同意书。3名检测结果异常的受试者中有3名以及5名意义未明变异（VOUS）受试者中有4名被转介至临床遗传学专家处。20名检测结果正常的家庭中有8名收到了书面通知；2名检测结果异常的家庭通过面对面告知，1名通过书面告知；大多数VOUS结果是通过电话、语音邮件或信件传达的。
CMA检测需要有清晰的患者信息表以及进行深入的检测前讨论以获得知情同意，及时反馈检测结果并酌情进行遗传学转介。需要权威指南和培训来加强CMA咨询工作。
