Clinical Genetics II (RGN_015)
About Study Course
Objective
To provide the medical genetics resident with theoretical knowledge and practical skills and improve them in order to prepare the doctor for certification in the speciality of medical genetics in accordance with the rules and regulations of the Republic of Latvia.
Learning outcomes
1.Medical genetics resident defines the role of genetic factors in health maintenance, as well as in the development of congenital and multi-factorial diseases, role of genes and teratogenes in development of human congenital anomalies. To describe how changes in chromosomes and DNA change the function or number of genes, main monogenetic and other types of inheritance. To describe the clinical signs of the most common congenital monogenetic and chromosomal diseases. To understand the clinical meaning of penetrance, variable expression, anticipation, and new mutation.
1.To gather family anamnesis, draw and interpret the family tree, recognize patients with a genetic disease of risks of development of a genetic disease, to give genetic advice in accordance with the goals, methods and practice adopted, to calculate the monogenetic diseases’ recurrence risk, explain the concept of risk to a patient understandably, provide the genetic information understandably, and to allow the patient and his/her family to make the decision.
1.After a successfully completed study course, the medical genetics resident has acquired the mandatory competence. Selects the examination plan appropriate for setting the diagnosis, prescribes examinations; assesses the potential heterogeneity of a genetic diseases and its impact on diagnostics; sets a genetic diagnosis in accordance with the evidence-based medical practice; provides the patient with information on the hereditary mechanism of a genetic disease, family planning, course of disease and prognosis; recommends the consultations of other specialists appropriate for the medical issues development of which is characteristic for the particular genetic syndrome; prescribes medication specific to genetic diseases, is able to create an examination plan appropriate for setting the diagnosis, to prescribe examinations. Knowledge of the given issue is sufficient to understand its essence, to diagnose and provide with emergency assistance, when necessary, to implement diagnostics, treatment, and preventive measures under the guidance of a specialist.
