Department of Nephrology, Royal Children's Hospital, Melbourne, Victoria, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
J Paediatr Child Health. 2022 May;58(5):758-761. doi: 10.1111/jpc.15955. Epub 2022 Mar 29.
Advances in the speed and accessibility of genomic sequencing are broadening the application of this technology to rapid, acute care diagnostics and pre-conception carrier screening. In both circumstances, genetic counselling plays a critical role in preparing couples for the strengths and limitations of the testing. For pre-conception carrier screening in particular, it is important that parents and clinicians are aware that even in the absence of an identified risk for recessive disease, a baby with a genetic condition may still be conceived. As an example, we present the genomic journey of a couple who underwent pre-conception carrier screening and following a low-risk result, delivered a baby boy who was diagnosed with Type 1 Bartter syndrome. Ultra-rapid, post-natal, trio whole genome sequencing resolved both parents as carriers of pathogenic variants in SLC12A1, a gene not included in the original pre-conception screening panel. This family's story highlights (i) the intricacy of gene selection for pre-conception screening panels, (ii) the benefits of high-quality pre-test genetic counselling in supporting families through adverse genomic findings and (iii) the role rapid genomics can play in resolving uncertainty for families and clinicians in circumstances where suspicion of genetic disease exists. This article is accompanied by a Patient Voice perspective written by the child's parents, placing emphasis on the essential role genetic counselling played in their journey.
基因组测序速度和可及性的提高正在拓宽这项技术在快速、急性护理诊断和孕前携带者筛查中的应用。在这两种情况下，遗传咨询在为夫妇准备测试的优势和局限性方面都起着至关重要的作用。特别是对于孕前携带者筛查，父母和临床医生应该意识到，即使没有隐性疾病的风险，也可能怀上患有遗传疾病的婴儿。例如，我们展示了一对夫妇的基因组之旅，他们进行了孕前携带者筛查，结果为低风险，随后生下了一名被诊断为 1 型巴特综合征的男婴。超快速的产后三人全基因组测序结果显示，父母双方均携带 SLC12A1 基因中的致病性变异，而该基因未包含在最初的孕前筛查面板中。这个家庭的故事突出了（i）孕前筛查面板中基因选择的复杂性，（ii）高质量的孕前遗传咨询在支持家庭应对不利的基因组发现方面的重要性，以及（iii）在存在遗传疾病怀疑的情况下，快速基因组学在为家庭和临床医生解决不确定性方面可以发挥的作用。本文附有一篇由孩子父母撰写的患者视角文章，强调了遗传咨询在他们的旅程中所扮演的重要角色。
