Clinical Genetics II

1.Medical genetics resident defines the role of genetic factors in maintaining health, as well as in the development of congenital and multi-factorial diseases, role of genes and teratogens in the development of human congenital anomalies. Describes how changes in chromosomes and DNA change the function or number of genes, main monogenic and other types of inheritance. Describes the clinical signs of the most common congenital monogenic and chromosomal diseases. Understands the clinical significance of penetrance, variable expression, anticipation, and new mutation. Explains the possibilities and limitations of genetic investigation. Describes the main methods of obtaining the test sample in prenatal diagnosis. Understands the main ethical issues in genetics.

1.Medical genetics resident gathers family anamnesis, creates and interprets the family tree, recognises patients with a genetic disease or a risk of developing a genetic disease, provides genetic counselling in accordance with the objectives, methods and practice adopted, calculates the risk of monogenic disease recurrence, explains the concept of risk in a way that the patient can understand, interprets the results provided by the genetic laboratory, provides genetic information in an understandable way, allowing the patient and their family to make the decisions.

1.After successful completion of the study course, the medical genetics resident has acquired the mandatory competence. Selects an examination plan appropriate for setting the diagnosis, prescribes examinations; evaluates possible genetic disease heterogeneity and the impact thereof on the diagnosis; sets a genetic diagnosis according to the practice of evidence-based medicine; provides the patient with information about the mechanism of inheritance of the genetic disease, family planning, course of the disease and prognosis; recommends consultations of other specialists according to the medical problems, the development of which is characteristic of the specific genetic syndrome; prescribes medications specific to genetic diseases. Able to draw up an appropriate investigation plan for establishing a diagnosis, prescribe examinations. Knowledge of the specific problem is sufficient to understand its essence, to diagnose and, if necessary, provide emergency assistance, implement diagnostic, treatment and preventive measures under the guidance of a specialist.