Marsick R, Limwongse C, Kodish E
Department of Pediatrics, Rainbow Babies and Childrens Hospital, Cleveland, OH 44106, USA.
Am J Kidney Dis. 1998 Dec;32(6):934-45. doi: 10.1016/s0272-6386(98)70087-3.
Advances in understanding the genetic basis of renal disorders will soon allow for the clinical use of genetic diagnostic testing. In this article, we review renal diseases with a known genetic basis and the current methods available for genetic testing. We then examine the potential medical indications for genetic testing, with special attention to autosomal dominant polycystic kidney disease (ADPKD). Because clinicians will be faced with patients considering genetic testing, we review the ethical considerations regarding genetic testing for renal diseases, recent genetic privacy legislation, and the special role genetic testing may have in transplantation. We conclude with a review of the necessary elements of informed consent, which provides the ethical foundation for patients deciding about genetic testing with the assistance of their physicians.
在理解肾脏疾病遗传基础方面取得的进展，很快将使基因诊断检测能够应用于临床。在本文中，我们回顾了具有已知遗传基础的肾脏疾病以及目前可用的基因检测方法。然后，我们研究了基因检测的潜在医学指征，特别关注常染色体显性多囊肾病（ADPKD）。由于临床医生将面对考虑进行基因检测的患者，我们回顾了有关肾脏疾病基因检测的伦理考量、近期的基因隐私立法，以及基因检测在移植中可能发挥的特殊作用。我们最后回顾了知情同意的必要要素，它为患者在医生协助下决定是否进行基因检测提供了伦理基础。
