Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
Department of Nephrology, Royal Liverpool Hospital, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK.
Br J Hosp Med (Lond). 2023 Jul 2;84(7):1-11. doi: 10.12968/hmed.2023.0085.
Inherited kidney disease accounts for a significant proportion of chronic kidney disease and end-stage renal failure. There is increasing evidence that genetic testing for inherited kidney disease should be integrated into clinical care pathways at the earliest opportunity so that patients and their families can maximally benefit from carefully tailored care. Despite increased availability of genetic testing, the proportion of patients with renal disease undergoing genetic investigations remains low. This article introduces key concepts of genetic and genomic testing to the renal physician and addresses some common barriers to the wider integration of genetic testing in routine clinical practice to fully capitalise on recent advances in genomic medicine and improve patient outcomes.
遗传性肾病占慢性肾脏病和终末期肾衰竭的很大比例。越来越多的证据表明,遗传性肾病的基因检测应尽早纳入临床护理路径,以便患者及其家属能够从精心定制的护理中最大限度地受益。尽管基因检测的可用性有所增加,但接受基因检查的肾病患者比例仍然很低。本文向肾脏科医生介绍了基因和基因组检测的关键概念,并讨论了在常规临床实践中更广泛地整合基因检测的一些常见障碍,以充分利用基因组医学的最新进展并改善患者的预后。