Asesoramiento genético en Neurología: un problema complejo que necesita regulación

Abstract

Introduction The generalization of genetic studies is transforming the practice of Neurology and confronts the clinical departments with new challenges, such as the organization of genetic counseling. The requirement of specialized knowledge, both clinical and molecular, as well as the need for psychological evaluation and family support, especially for predictive testing and reproductive planning, makes a multidisciplinary approach mandatory. Development The main characteristics of genetic neurodegenerative diseases are the high level of required specialization – since these disorders are often rare and of difficult diagnosis – together with a generally progressive course, unavailability of effective treatment, the issues generated by predictive testing and the interpretation of genetic testing. The aim of genetic counseling is to provide sufficient and objective information for each individual to make their own decision on genetic testing. It must touch upon psychological aspects and family communication. The PICOGEN program from the Clinic Hospital in Barcelona for genetic testing and counseling of dementias is a good example of integrated strategy capable of managing this new clinical scenario in neurology. Unfortunately, this program is an exception in Spain and the patients with neurogenetic disorders and their families usually do not have guaranteed access to an appropriate care. Conclusions Genetic counseling is a unique clinical activity that requires provision of enough time, space and resources to be developed. It implies multidisciplinary participation, due attention to psychological and family issues, and cannot be carried out adequately in a routine Neurology clinic. Legislation is needed to promote a correct articulation of genetic counseling in our country with guarantee of quality and equity. This includes training of the necessary health professionals, clarification of competences and provision of resources to the institutions for the development of such programs.