Departments of Medicine.
Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Pharmacogenet Genomics. 2019 Jan;29(1):18-22. doi: 10.1097/FPC.0000000000000361.
Hypertension and chronic kidney disease are inextricably linked. Hypertension is a well-recognized contributor to chronic kidney disease progression and, in turn, renal disease potentiates hypertension. A generalized approach to drug selection and dosage has not proven effective in managing these conditions, in part, because patients with heterogeneous kidney disease and hypertension etiologies are frequently grouped according to functional or severity classifications. Genetic testing may serve as an important tool in the armamentarium of clinicians who embrace precision medicine. Increasing scientific evidence has supported the utilization of genomic information to select efficacious antihypertensive therapy and understand hereditary contributors to chronic kidney disease progression. Given the wide array of antihypertensive agents available and diversity of genetic renal disease predictors, a panel-based approach to genotyping may be an efficient and economic means of establishing an individualized blood pressure response profile for patients with various forms of chronic kidney disease and hypertension. In this manuscript, we discuss the validation process of a Clinical Laboratory Improvement Amendments-approved genetic test to relay information on 72 genetic variants associated with kidney disease progression and hypertension therapy. These genomic-based interventions, in addition to routine clinical data, may help inform physicians to provide personalized therapy.
高血压和慢性肾脏病是密切相关的。高血压是慢性肾脏病进展的一个公认的致病因素，反过来，肾脏疾病也会加重高血压。药物选择和剂量的一般方法在治疗这些疾病方面并不有效，部分原因是患有不同病因的肾脏疾病和高血压的患者经常根据功能或严重程度分类进行分组。遗传测试可能是接受精准医学的临床医生的重要工具。越来越多的科学证据支持利用基因组信息来选择有效的降压治疗，并了解导致慢性肾脏病进展的遗传因素。鉴于可用的降压药物种类繁多，以及遗传肾脏疾病预测因素的多样性，基于面板的基因分型方法可能是为患有各种形式的慢性肾脏病和高血压的患者建立个体化血压反应谱的有效且经济的手段。在本文中，我们讨论了一种经临床实验室改进修正案批准的遗传测试的验证过程，该测试用于传递与肾脏疾病进展和高血压治疗相关的 72 种遗传变异体的信息。这些基于基因组的干预措施，除了常规临床数据外，还可能有助于告知医生提供个性化治疗。
