Principles of genetic counselling

Abstract

Abstract Purpose To present the genetic counselling needs of families with inherited eye disease. Methods A presentation on the counselling challenges and ethical dilemmas in genetic services for inherited eye disease using case illustrations and review of research and current literature. Results Genetic counselling for families with inherited eye disease is rapidly advancing with improvements in molecular testing leading to accurate diagnosis and information for families. With increasing patient demand and expectation, families request genetic counselling to understand the inheritance pattern and the risks to themselves and their children. However, the heterogeneity, variable penetrance and overlapping phenotypes make this particularly challenging in genetic eye disease. Genetic counselling is a communication process to provide information about the genetic condition, its inheritance and to facilitate decision‐making around genetic testing and reproduction. Genetic counsellors have experience in helping individuals decide and come to terms with results from genetic testing such as pre‐symptomatic testing, childhood testing and pre‐natal diagnosis. In addition, families are often coping with the psychological burden of progressive blindness and the impact of vision loss and risk to other family members. Recent publications highlight the disparity in specialist service provision for families with inherited eye disease and calls for research and improvements in evidenced‐based practice. Conclusion Families with inherited eye disease have complex genetic counselling needs requiring multidisciplinary co‐ordination of services for accurate diagnosis, information provision, genetic testing and decision‐making, and support and follow‐up.