Murdoch Children's Research Institute, Melbourne, VIC, Australia.
The University of Melbourne, Melbourne, VIC, Australia.
Eur J Hum Genet. 2024 Feb;32(2):150-154. doi: 10.1038/s41431-023-01477-8. Epub 2023 Oct 20.
Rapid genomic testing in critically ill children is becoming the standard of care where there is a high suspicion of an underlying genetic condition and should be provided equitably for all patients in acute care settings. The HGSA encourages an appropriately resourced multidisciplinary team approach, particularly involving genetic health professionals, wherever practicable in the delivery of rapid genomic testing services. Pre-test genetic counselling should be tailored to the family and followup appointments should be offered. Explicit informed consent for rapid genomic testing should be obtained, even in acute care settings. Rapid genomic testing should be delivered with as fast a turnaround time as possible. Laboratories should use genome, rather than exome, sequencing wherever possible. Incidental, secondary findings, and variants of uncertain significance should be reported judiciously. While we recommend the trio approach in this setting, infants or children should not be excluded from rapid genomic testing programmes if one or both biological parents are unavailable.
在高度怀疑存在潜在遗传疾病的情况下，对危重症儿童进行快速基因组检测正成为标准的治疗方法，应在急性护理环境中为所有患者公平提供。HGSA 鼓励在可行的情况下，通过多学科团队方法，特别是涉及遗传健康专业人员，提供快速基因组检测服务。在进行快速基因组检测之前，应根据家庭情况提供个性化的遗传咨询，并提供随访预约。即使在急性护理环境中，也应获得明确的快速基因组检测知情同意。快速基因组检测应尽快完成。实验室应尽可能使用基因组测序，而不是外显子组测序。应谨慎报告偶然发现的、次要的、意义未明的变异。虽然我们在此情况下推荐三对测试方法，但如果一对或双方生物学父母无法提供样本，也不应将婴儿或儿童排除在快速基因组检测计划之外。
