What is the meaning of a 'genomic result' in the context of pregnancy?
What is the meaning of a 'genomic result' in the context of pregnancy?
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DOI：
10.1038/s41431-020-00722-8
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发表时间：
2020-09-14
影响因子：
5.2
通讯作者：
Lucassen, Anneke
中科院分区：
文献类型：
--
作者：
Shkedi-Rafid, Shiri;Horton, Rachel;Lucassen, Anneke
过去，产前基因测试和分析通常只有在注意到或怀疑特定的胎儿表型时才进行，这意味着对已确定的基因变异的过滤和解释可能植根于试图解释现有的健康问题。现在，先进的基因组测试越来越多地用于“低风险”妊娠，在赋予其意义所必需的表型数据之外产生有关基因的信息，从而增加了预测特定基因变异是否以及如何影响未来发育和健康的难度。因此，医疗保健科学家、临床医生和父母面临的一个挑战是，决定产前基因变异应该具有什么品质，才能被构建为一种结果。同时，为了对是否继续怀孕做出两难的决定，经常需要重新进行这样的测试。随着一系列专业组织制定怀孕期间使用高级基因组测试的指南，我们强调了发现模糊发现的特别困难，例如具有不确定临床意义的变异、神经发育问题的易感基因以及成人发病疾病的易感性。我们的目标是促进关于如何做出关于披露的决定以及如何传达不确定性的国际讨论。
Prenatal genetic testing and analysis in the past was usually only offered when a particular fetal phenotype was noted or suspected, meaning that filtering and interpretation of genetic variants identified could be anchored in attempts to explain an existing health concern. Advanced genomic testing is now increasingly used in "low-risk" pregnancies, producing information on genotype adrift of the phenotypic data that is necessary to give it meaning, thus increasing the difficulty in predicting whether and how particular genetic variants might affect future development and health. A challenge to healthcare scientists, clinicians, and parents therefore is deciding what qualities prenatal genotypic variation should have in order to be constructed as a 'result.' At the same time, such tests are often re requested in order to make binary decisions about whether to continue a pregnancy or not. As a range of professional organizations develop guidelines on the use of advanced genomic testing during pregnancy, we highlight the particular difficulties of discovering ambiguous findings such as variants with uncertain clinical significance, susceptibility loci for neurodevelopmental problems and susceptibility to adult-onset diseases. We aim to foster international discussions about how decisions around disclosure are made and how uncertainty is communicated.