Varga Elizabeth A
Division of Hematology/Oncology/BMT, Nationwide Children's Hospital, The Ohio State University, Columbus, OH, USA.
J Genet Couns. 2012 Jun;21(3):382-5. doi: 10.1007/s10897-012-9482-1. Epub 2012 Apr 11.
As a genetic counselor, I had mixed opinions when my mother told me of her intent to undergo genomewide, SNP-based direct-to-consumer (DTC) genetic testing. I cautioned her that results could be misleading, could increase anxiety and were often of limited clinical validity or utility. I warned of the possibility of learning unintended health information and expressed concerns about how the information might be used by a private company. I told her about the variability in results among companies. Yet, she persisted in her desire, reminding me that she was an informed consumer. After reviewing her goals and understanding of the information she might receive, she elected to proceed. Despite my insistence that I would not be her personal genetic counselor, when the results came back, I found myself immersed in her genetic data. In this manuscript, I will examine how this personal experience challenged my perceptions of DTC testing.
作为一名遗传咨询师，当母亲告诉我她打算进行全基因组、基于单核苷酸多态性（SNP）的直接面向消费者（DTC）基因检测时，我看法不一。我告诫她，检测结果可能会产生误导，会增加焦虑，而且临床有效性或实用性往往有限。我提醒她可能会得知意外的健康信息，并对一家私人公司会如何使用这些信息表示担忧。我还告诉她不同公司的检测结果存在差异。然而，她坚持自己的想法，提醒我说她是个明智的消费者。在审视了她的目标以及她对可能收到的信息的理解后，她选择继续检测。尽管我坚持表示不会担任她的私人遗传咨询师，但结果出来后，我发现自己沉浸在了她的基因数据中。在这篇手稿中，我将探讨这段个人经历如何挑战了我对DTC检测的认知。
