1) to recognize a genetically determined disorder; 2) to correctly evaluate the model of inheritance of a disease; 3) to know the principal indications to genetic testing, be able to select the most appropriate genetic tests and to correctly interpret positive, negative and ambiguous results; 4) to know the basics of genetic counseling; 5) to be able to manage the reproductive problems of a family, including prenatal diagnosis. At the end of the course, the student will be able to autonomously manage the issues related to the presence of a genetically determined disease in a family, and be active part, in collaboration with other specialists, in the diagnostic procedure and the correct planning of strategies to prevent a genetic disease.
Course Prerequisites
To be enrolled in the 6th year of Medical School; to have a good knowledge of human anatomy, physiology and pathology; to be familial with clinical, laboratory and imaging diagnostic methodologies; to know most relevant human diseases including cancer; to know the basics of pharmacological and surgical treatments; to be familiar with the basics of Human Genetics (DNA and its function; gene and chromosome mutations; mechanisms of inheritance).
Teaching Methods
Lectures; all topics will be presented with practical examples of genetic diseases, with clinical details and videos of patients. Interaction between teacher and students will be encouraged.
Assessment Methods
The exam can only be taken by those who have attended at least 75% of the lesson hours. Written exam lasting 30 minutes consisting of 15 multiple choice questions (4 answer options, only one correct; no penalty for incorrect answers; two points each correct answer). Evaluation scale 0-30. The result of the Medical Genetics exam will be published on Esse3 (where the acceptance/refusal can be done by the student). Concerning registration, students have to enroll directly on their personal area. Only one final grade will be reported in the student’s curriculum, representing the weighted arithmetic mean between the grades obtained for Gynecology and Obstetrics (5 CFU) and Medical Genetics (1 CFU).
Texts
Read, Donnai: New Clinical Genetics Harper: Practical Genetic Counselling WEB sites: OMIM; Gene Reviews
Contents
The program includes: 1) indications to genetic testing 2) choice of the most appropriate genetic testing 3) interpretation of genetic testing results (positive, negative, ambiguous) 4) genetic counselling (with practical examples) 5) prenatal diagnosis
Course Language
Italian
More information
The possibility of attending genetic clinics is offered to a limited number of students. There is also the possibility to prepare the graduation thesis in Medical Genetics for 1-2 students /year.
