PRESENTATION OF THE COURSE

     The steady advances in knowledge of the complexity of the human genome, besides bringing with them many novel contributions to the understanding of genetic diseases and genetic counseling, created also new ethical implications for the families of patients with genetic diseases. Genetic counseling (GC) is a set of multi-professional procedures aimed at providing information related to the occurrence and recurrence of genetic diseases. This process is expected to pass on information to help families in: 1) understanding the diagnosis of the disease, its probable course and the effectiveness and availability of treatments; 2) understanding the contribution of heredity to the origin or causation of the disease and its risks of recurrence in near-relatives and other family members; 3) understanding the alternatives to circumvent or cope with problems related to recurrence risks; 4) making informed choices within their ethical and religious standards. It is expected, as a result of this process, that the family will be able to make informed decisions. With the dissemination of knowledge resulting from the Human Genome Project and other complete sequencing projects of thousands of human genomes and the clinical use of state-of-the-art sequencing techniques, the interpretation of genetic data thus generated and their application in people's health programs has become a very complex task. Specialized personnel with solid knowledge of human genomics are the only  professionals prepared to translate the meaning of this information to the lay public. With the improvement of sanitary and basic health conditions in the developed areas of Brazil taking place recently, it is expected that gradually the impact of environmentally-caused (infectious and parasitic) diseases will be drastically reduced, with the resulting and concomitant increase of genetic diseases and ageing impacting on the health of the population. In addition, a 2009 decree from the Brazilian Health Ministry established, within the scope of the Unified Health System (Sistema Unificado de Saúde SUS) currently prevalent in Brazil, a national policy for comprehensive care in clinical genetics. This decree clearly states that genetic counseling is the basis of health care in clinical genetics and should be extended to all individuals and families at higher risk of having congenital anomalies or genetic diseases. It is expected that, as a result of the implementation of this decree, many new job openings will be created in the country, with special attention to multi-professional teams designed to provide care in human, medical and clinical genetics, and in genetic counseling. As pointed out before, professionals performing genetic counseling must have a solid knowledge of human genetics, cytogenetics and molecular genetics; it is expected that fundamentals of other related issues (such as embryology, teratology, statistics and bio-informatics, ethics and public health) be a significant part of their education, as well as the development of communication skills. This will be certainly provided by practical internships under the supervision of experienced professionals.

         It is expected that the professionals graduated in the course will be able to act as members of multi-professional health teams, providing support to families of individuals affected by genetic diseases. Their role will be to collect and to interpret information obtained in genetic anamnesis, genetic tests, to evaluate risks of occurrence and recurrence of diseases and to help families  to reflect about reproductive options. Additional tasks may be referring families to support services and associations. 

         The expected role of the genetic counselors is the education of patients, families and of other health professionals. They may also join research teams and act in the development of public policies related to genetics, as well as advising associations of support of families with genetic diseases.