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首页> 外文期刊>Journal of Personalized Medicine >An Altered Treatment Plan Based on Direct to Consumer (DTC) Genetic Testing: Personalized Medicine from the Patient/Pin-cushion Perspective
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An Altered Treatment Plan Based on Direct to Consumer (DTC) Genetic Testing: Personalized Medicine from the Patient/Pin-cushion Perspective

机译：基于直接针对消费者（DTC）基因测试的变更治疗计划：从患者/枕形肌瘤角度看个性化药物

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Direct to consumer (DTC) genomic services facilitate the personalized and participatory aspects of “P4” medicine, but raise questions regarding use of genomic data in providing predictive and preventive healthcare. We illustrate the issues involved by describing a pregnancy management case in which a treatment plan was modified based on a DTC result. A woman whose personal and family history were otherwise unremarkable for thromboembolism learned through DTC testing about the presence of a prothrombin (factor 2) gene mutation (rs1799963). Twice daily injections of enoxaparin were recommended throughout pregnancy for this patient who, without prior knowledge of this mutation, would not have been offered such therapy. Moreover, genetically based medical guidelines are a moving target, and treatment of thrombophilic conditions in asymptomatic patients is controversial. We address the state of the art in actionable personalized medicine with respect to clotting disorders in pregnancy, as well as other factors at play— economics, patient preference, and clinical decision support. We also discuss what steps are needed to increase the utility of genomic data in personalized medicine by collecting information and converting it into actionable knowledge.
机译：直接面向消费者（DTC）的基因组服务促进了“ P4”药物的个性化和参与性方面，但引发了有关在提供预测性和预防性医疗保健方面使用基因组数据的问题。我们通过描述一个怀孕管理案例来说明涉及的问题，在该案例中，根据DTC结果修改了治疗计划。通过DTC测试了解到存在凝血酶原（因子2）基因突变（rs1799963）的女性，其个人和家族史对血栓栓塞没有明显意义。对于该患者，建议在怀孕期间每天两次注射依诺肝素，因为他们事先不知道这种突变，因此不会提供这种治疗。此外，基于基因的医学指南是一个移动的目标，无症状患者的血栓形成性疾病的治疗引起争议。我们针对与妊娠凝结疾病有关的实用个性化医学以及其他因素（经济，患者偏爱和临床决策支持）探讨了最新技术。我们还将讨论需要采取哪些步骤，通过收集信息并将其转换为可操作的知识来提高基因组数据在个性化医学中的用途。

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