Postgraduate School of Medical Genetics 

Integrated training objectives (i.e. common core)
The trainee must have acquired knowledge of physiopathology, functional and instrumental semiotics and therapeutic monitoring in the field of internal medicine, neurological and psychiatric, pediatric, obstetric-gynecological and medical specialist diseases essential for the preparatory training of the specialists of the class for the diagnostic and therapeutic objectives of the pathological conditions of interest of the individual types of specialization, through the use of teachings pertaining to the relevant scientific-disciplinary sectors

Basic training objectives
The trainee must acquire fundamental notions of heredity and the mechanisms underlying human diseases. He must also acquire the theoretical and conceptual bases of human and medical genetics and the diagnostic-clinical aspects related to it, including genetic counseling and genetic testing. He must learn the advanced aspects of research relating to recombinant technologies and genomic analysis technologies in medical genetics. Must acquire the scientific basis of embryology, biochemistry, computer science and medical statistics. Must learn the genetic and molecular basis of the immune response and the mechanisms of mutagenesis;

Educational objectives of the School typology
The Resident must have acquired notions of human and medical genetics, internal medicine, pediatrics and obstetrics necessary to complete the training of the specialists of the class for the semiotics, diagnosis and therapy of the pathologies of the individual types of specialization. Must have learned the main laboratory tests of blood chemistry, immunohematological and clinical pathology, and their purpose and utility in the clinical and diagnostic framework, prevention and monitoring of structures and systems implicated in genetic pathologies.
The Resident must also acquire the theoretical knowledge and laboratory practice that are the basis of chromosomal, monogenic, polygenic diseases including those caused by somatic mutations; must acquire the knowledge for the development, use and quality control of genetic tests; must learn the methodologies of molecular genetics, cytogenetics, biochemistry aimed at the diagnosis of genetic diseases and recombinant biotechnologies also for the purpose of assessing susceptibility to diseases and response to drugs; must know the tools of monitoring and gene therapy; must know the instrumental technologies, including automated ones, that allow molecular analysis and the study of genes and the genome

Specific for the Graduate in Medicine and Surgery are the knowledge, in relation to genetic counseling activities, of the principles of semiotics, both physical and instrumental, and of the clinical notions aimed at defining a diagnostic, prognostic and therapeutic process.

Similar or integrative Objectives are those useful for training the specialist to interact with other specialists in different Areas, including Medical and Services. He/she must also be able to interact with professionals from the human sciences, community medicine and forensic medicine, also in relation to Physical and Rehabilitation Medicine, Bioethics, General, Clinical and Pediatric Nursing Sciences, Obstetrics and Gynecology, Oncology, Neurology. In relation to the disciplinary area of ??Public Health, the objectives are the fundamental knowledge of Epidemiology, Statistics and Health Management.

For the purposes of the final exam, the trainee will have to study and discuss at seminar level clinical or laboratory problems encountered in the field of genetic counseling.
The trainee must also acquire the ability to process and organize data derived from clinical activity, including through computer tools and the evaluation of the bioethical implications of medical genetics

The trainee, as part of the training program, must learn the scientific bases of the School typology in order to achieve full maturity and professional competence that includes an adequate ability to interpret scientific innovations and critical knowledge that allows him to consciously manage both assistance and his own updating; in this context, participation in meetings, conferences and the production of scientific publications and periods of attendance at qualified Italian and foreign institutions useful for his training may be foreseen.

Mandatory professionalizing activities for achieving the educational objectives of the Type are:
a. Training in complex structures or simple structures of Clinical Genetics (including Genetic Counseling)
- Participation in the diagnostic framework of at least 250 post-natal cases of genetic pathologies and related genetic counseling report and communication of any genetic test results, actively contributing to the collection of anamnestic data, performing the objective examination, performing research on genomic databases where appropriate, proposing the programming of rational diagnostic interventions, and critically evaluating the clinical data;
- Participation in at least 50 cases of genetic counseling for infertility of couples or recurrent miscarriages and related genetic counseling report and communication of any genetic test results, actively contributing to the collection of anamnestic data, performing research on genomic databases where appropriate, proposing the programming of rational diagnostic interventions, and critically evaluating the clinical data;
-Participation in at least 100 cases of prenatal genetic counseling and related reporting and communication of any genetic test results, actively contributing to the collection of anamnestic data, performing research on genomic databases where appropriate, proposing the planning of rational diagnostic interventions, and critically evaluating clinical data.
These activities must be carried out interactively with their tutors, within a network of specialist skills, who participate in defining the diagnosis, especially in the case of less common or rare pathologies.
b. Laboratory activities in Medical Genetics. Medical trainees must complete the following internships:
Attendance in the Cytogenetics and Molecular Cytogenetics laboratory with:
- participation in the execution of at least 15 karyotypes and/or FISH tests
- interpretation of analytical data and drafting of reports of at least 30 karyotypes and/or FISH tests.
- participation in the execution of at least 15 analyses for the search for unbalanced genomic rearrangements with array-based methodologies (array-CGH or array-SNP)
- interpretation of analytical data and drafting of reports of at least 50 analyses for the search for unbalanced genomic rearrangements with array-based methodologies (array-CGH or array-SNP)
Attendance in the Molecular Genetics laboratory with:
- participation in the execution of at least 20 molecular genetic tests for the search for genetic mutations or variants, including immunogenetic tests, with traditional direct or indirect analysis methodologies and/or with next-generation sequencing methods
- interpretation of analytical data and drafting of reports of at least 30 molecular genetic tests, including immunogenetic tests (at least 5 tests of this type), with direct or indirect analysis methodologies for the search for known genetic mutations or variants (at least 15 tests of this type typology) and/or for the identification of mutations responsible for clinical pictures on a presumed genetic basis by screening the entire sequence of one or more genes (at least 10 tests of this type)
- interpretation of analytical data (including bioinformatics analysis) and drafting of reports of at least 15 tests performed with new generation sequencing methods.

The specialist may compete for the diploma after completing the professionalizing activities