Insights about uncertainty in genetic counseling

Genetic counseling is an information process to help people in the understanding and adaptation to the medical, psychological and family implications of the genetic contribution in diseases. This counseling encompasses all sorts of patients. This represents a challenge in the daily work of the medical geneticist, because giving information in a meaningful way to the patient and his family implies an emotional and psychological burden. Generally we can see two outcomes in the medical practice of genetics, which converge after a diagnosis process: 1) we can face the inability to reach a diagnostic conclusion or 2) we can establish or confirm a diagnosis with certainty, which is the main piece in the genetic counseling. However, in all the situations the uncertainty is a fact, since in the case of those individuals who come in for genetic counseling before symptoms appear or those in prenatal cases, the absence of clinical manifestations and the impossibility to change the course of events lead to the appearance of helplessness and despair. In those cases without diagnostic conclusion, this situation represents a reason for uncertainty, and even in those patients with a diagnosis, certain factors can modify the circumstances in which genetic counseling occurs, such as unpredictability or lack of control. Therefore, it is important to consider the management of uncertainty as an inherent part throughout the process of care in medical genetics. The teaching of medical genetics should also consider the inclusion of topics related to this circumstance.