Rosenberg E E, Tannenbaum T N, Miller S D, Lamothe E M, Rosenblatt D S
Division of Clinical Epidemiology, Montreal General Hospital, Quebec.
Clin Invest Med. 1992 Oct;15(5):440-4.
Because of the availability of presymptomatic testing for autosomal dominant polycystic kidney disease (ADPKD), we assessed the response of nephrologists, patients, and at-risk relatives to the introduction of a genetic counselling program for ADPKD. Fifty-six of seventy-six nephrologists responded. Ninety-eight percent reported 'generally' telling their patients that the disease was hereditary, but fewer reported screening relatives (81% for children and 70% for siblings and parents). Ninety percent were interested in referring patients to the service. Fourteen of the 24 patients in one renal clinic and 18 of their at-risk relatives were interviewed. Ten of the patients but only five of the relatives stated that the disease was hereditary. The precise mechanism of inheritance was poorly understood by most patients and relatives. Of 21 patients offered genetic counselling, nine made appointments to see the genetic counsellor. There remains a large gap between advancing technology and the delivery of information to at-risk populations.
由于常染色体显性多囊肾病（ADPKD）存在症状前检测，我们评估了肾病学家、患者及高危亲属对引入ADPKD遗传咨询项目的反应。76名肾病学家中有56人做出了回应。98%的人报告称“通常”会告知患者该疾病具有遗传性，但报告筛查亲属的人数较少（儿童为81%，兄弟姐妹和父母为70%）。90%的人有兴趣将患者转介至该服务。对一家肾脏诊所的24名患者及其18名高危亲属进行了访谈。10名患者表示该疾病具有遗传性，但只有5名亲属这样认为。大多数患者和亲属对确切的遗传机制了解甚少。在21名获得遗传咨询的患者中，有9人预约了遗传咨询师。在先进技术与向高危人群提供信息之间仍存在巨大差距。
