Corpas Manuel
J Genet Couns. 2012 Jun;21(3):386-91. doi: 10.1007/s10897-011-9473-7. Epub 2012 Jan 6.
This article presents a personal journey of a close-knit family from Málaga, Spain who engaged with direct-to-consumer (DTC) genomic testing. Whilst the testing was initiated by one member of the family who works as a genome bioinformatician, none of the remaining family had any prior experience with DTC genetic testing. A thoughtful account, written in the first person, is offered on the experience of genome testing across the various members of the family together with a reflection on how it felt to be a custodian of the 'family genome'. The way the family processed their genome information is explored and the difficulties and challenges that resulted are discussed. Whilst there is a wealth of literature that describes how families communicate information surrounding single genes, there is very little which explores the experience of communication about whole, shared genomes. The experiences described in this paper provide an insight into this new territory.
本文讲述了西班牙马拉加一个关系紧密的家庭进行直接面向消费者（DTC）基因检测的个人历程。虽然检测是由家中一位从事基因组生物信息学工作的成员发起的，但其他家庭成员此前都没有过DTC基因检测的经历。文章以第一人称进行了深入叙述，介绍了家庭中各个成员的基因检测经历，并反思了作为“家庭基因组”守护者的感受。探讨了这个家庭处理其基因组信息的方式，并讨论了由此产生的困难和挑战。虽然有大量文献描述了家庭如何交流关于单个基因的信息，但很少有文献探讨关于整个共享基因组的交流体验。本文所描述的经历为这一全新领域提供了深刻见解。
