Genetic counselling and adult polycystic kidney disease: patients' knowledge, perceptions and understanding

Abstract

Adult Polycystic Kidney Disease (APKD) is a genetic disease transmitted in an autosomal dominant fashion. There is no cure. Treatment is of the symptoms as they appear usually in adulthood. Patients affected by APKD may receive genetic counselling from renal physicians. The aims of genetic counselling can be described through paradigms which reflect the current understanding of genetics and knowledge of the illnesses. The availability of new diagnostic techniques creates a new paradigm concerned with the ethical issues of genetic testing and counselling. An investigation into patients' knowledge, perceptions and understanding of genetic counselling was undertaken at the Renal Unit of Glasgow Royal Infirmary, prior to the establishment of a screening and counselling service for those at risk for APKD. The main findings of the study were: the majority of patients had received some genetic counselling from renal physicians; the majority of patients had relatively good knowledge of the symptoms of and treatments for APKD; nevertheless patients believed that the two most important items to be included in genetic counselling were information about the symptoms and the treatment of APKD; patients did not fully understand the genetic inheritance of APKD; they described the risk of transmission of APKD (50-50) as a medium risk; almost all patients recommended that their at risk relatives and their children be tested for APKD; prior to the availability of prenatal diagnosis, patients thought that their children should be tested between the ages of 16 and 20. A secondary study, including spouses of those with APKD and also haemophiliacs and their spouses, found that respondents favoured prenatal testing without termination of pregnancy and that both diseases were rated as being of medium severity. These findings raise ethical issues for those giving genetic counselling, and have implications for the content of genetic counselling.