Jefferis Julia, Mallett Andrew J
Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.
Faculty of Medicine, The University of Queensland, Brisbane, Australia.
Clin Kidney J. 2024 Feb 21;17(3):sfae043. doi: 10.1093/ckj/sfae043. eCollection 2024 Mar.
Clinical genetics is increasingly recognized as an important area within nephrology care. Clinicians require awareness of genetic kidney disease to recognize clinical phenotypes, consider use of genomics to aid diagnosis, and inform treatment decisions. Understanding the broad spectrum of clinical phenotypes and principles of genomic sequencing is becoming increasingly required in clinical nephrology, with nephrologists requiring education and support to achieve meaningful patient outcomes. Establishment of effective clinical resources, multi-disciplinary teams and education is important to increase application of genomics in clinical care, for the benefit of patients and their families. Novel applications of genomics in chronic kidney disease include pharmacogenomics and clinical translation of polygenic risk scores. This review explores established and emerging impacts and utility of genomics in kidney disease.
临床遗传学在肾脏病护理领域日益被视为一个重要领域。临床医生需要了解遗传性肾脏疾病，以识别临床表型，考虑使用基因组学辅助诊断，并为治疗决策提供依据。在临床肾脏病学中，越来越需要了解广泛的临床表型和基因组测序原则，肾脏病医生需要接受教育和获得支持，以实现有意义的患者治疗效果。建立有效的临床资源、多学科团队和开展教育，对于增加基因组学在临床护理中的应用、造福患者及其家庭而言非常重要。基因组学在慢性肾脏病中的新应用包括药物基因组学和多基因风险评分的临床转化。本综述探讨了基因组学在肾脏疾病中既有的和新出现的影响及应用。
