Gene Testing in Autosomal Dominant Polycystic Kidney Disease: Results of National Kidney Foundation Workshop

Abstract

Until recently the diagnosis of hereditary disorders was dependent on the phenotypic manifestation of those disorders. This created considerable obstacles for effective genetic counseling and family planning in late onset disorders, such as polycystic kidney disease. Moreover, in autosomal dominant disorders there is sufficient clinically variability that diagnosis could not always be established with certainty. For example, in autosomal dominant polycystic kidney disease clinicians were appropriately reluctant to confirm the diagnosis in a 20-year-old, at-risk family member with only a few scattered renal cysts. Moreover, they were equally unwilling to definitively remove any risk of development of the disease from a 20-year-old with normal, noncystic kidneys. Within the last decade, gene linkage and other gene identification techniques have provided new methodologies to surmount these dilemmas. However, these techniques also have produced new questions. In order to provide some guidance to clinicians and investigators utilizing the methodologies of recombinant DNA, genetic linkage, and gene identification the American Society of Genetics commissioned a panel to provide initial guidelines regarding DNA banking. The National Kidney Foundation task force is in agreement with the concepts this group has outlined. However, specific guidelines for the use of genetic linkage techniques in autosomal dominant polycystic kidney disease appeared necessary with the commercial availability of this diagnostic test.