Genetic Counseling for Inborn Errors of Metabolism

Abstract

The diagnosis of any inherited disease has implications not only for the affected individual with regard to understanding of clinical features, prognosis, possible complications, and long-term management but also for other family members who may have an increased probability of being affected with the same or a related condition. Patients, parents, and other relatives need to understand the genetic basis of an inborn error of metabolism and associated risks in the family in order to actively cope with the condition and to make decisions that are right for them. Genetic counseling is the process of providing the necessary individualized information about a genetic condition and its implications and to assist in decision-making in a nondirective manner (Harper 2010). Genetic counseling therefore deals not only with the medical aspects of a genetic disease but also with its social and psychological consequences and the possibilities and strategies for coping with genetic diseases and genetic risks. In a genetic consultation the physician does not focus on the patient alone but on the entire family, including other family members who might already be affected as well as those who might be affected in the future. Genetic counseling may sometimes be emotionally challenging and is always time-consuming. Frequently there are unfounded feelings of “responsibility” and guilt for having transmitted the disease which need to be addressed. Sometimes more than one counseling session is required in order to gradually introduce the client to the personal significance of the various aspects of the counseling topic.