Chapter 27 - Genetic Counseling in Wilson Disease: Beyond Disseminating Genetic Information

Abstract

As genetics becomes increasingly relevant to all areas of medicine, insight into the process of genetic counseling becomes critical to understanding the role of genetics in medicine. Genetic counseling is a collaborative process through which individuals and families receive support and information about a genetic diagnosis or a hereditary condition they may be at risk for. The goal of genetic counseling is to deliver personalized patient advocacy and care to individuals and their families as they undertake the complex process of making informed decisions regarding their genetic health. Genetic counselors and clinical medical geneticists provide this expertise. Various social factors, such as gender, education level, and class, affect how people integrate a diagnosis of Wilson disease (WD) into their lives. During childhood, a self-perception of vulnerability may develop with the realization that they have more doctor appointments than their classmates and need to take medication to stay healthy. For asymptomatic adults diagnosed with WD through genetic testing, knowing that neurologic and psychiatric manifestations are significant aspects of this condition can be especially isolating. Individuals’ perceptions of stigmas impact how they perceive themselves. A diagnosis of WD does not solely define an individual’s identity; however, an emergence of a new genetic identity occurs as they integrate a genetic diagnosis into their self-identity. Through follow-up interactions, genetic counselors can assess how individuals and family members develop their uniquely individual genetic identity. Genetic counseling provides more than an opportunity to disseminate genetic information.