Salari Keyan, Watkins Hugh, Ashley Euan A
Department of Genetics, Stanford University School of Medicine, 300 Pasteur Drive, Stanford, CA 94305, USA.
Eur Heart J. 2012 Jul;33(13):1564-70. doi: 10.1093/eurheartj/ehs112. Epub 2012 Jun 1.
Medicine has always been personalized. For years, physicians have incorporated environmental, behavioural, and genetic factors that affect disease and drug response into patient management decisions. However, until recently, the 'genetic' data took the form of family history and self-reported race/ethnicity. As genome sequencing declines in cost, the availability of specific genomic information will no longer be limiting. Rather, our ability to parse these data and our decision whether to use it will become primary. As our understanding of genetic association with drug responses and diseases continues to improve, clinically useful genetic tests may emerge to improve upon our previous methods of assessing genetic risks. Indeed, genetic tests for monogenic disorders have already proven useful. Such changes may usher in a new era of personalized medicine. In this review, we will discuss the utility and limitations of personal genomic data in three domains: pharmacogenomics, assessment of genetic predispositions for common diseases, and identification of rare disease-causing genetic variants.
医学一直都是个性化的。多年来，医生们已将影响疾病和药物反应的环境、行为及遗传因素纳入患者管理决策中。然而，直到最近，“遗传”数据还只是以家族病史和自我报告的种族/族裔的形式存在。随着基因组测序成本的下降，特定基因组信息的可获取性将不再受限。相反，我们解析这些数据的能力以及我们是否使用这些数据的决策将变得至关重要。随着我们对基因与药物反应及疾病关联的理解不断加深，可能会出现临床上有用的基因检测，以改进我们之前评估遗传风险的方法。事实上，针对单基因疾病的基因检测已被证明是有用的。这些变化可能会迎来个性化医疗的新时代。在这篇综述中，我们将讨论个人基因组数据在三个领域的效用和局限性：药物基因组学、常见疾病遗传易感性评估以及罕见致病基因变异的识别。
