OVERVIEW

The course of Medical Genetics aims to provide students of the sixth year of medical training about consequences in clinical practice of medical genetic and of new diagnostic genetic tools now available. In particular, the course provides students with basic knowledge needed to MMG and PLS to target towards diagnostic and therapeutic appropriateness paths their patients.

AIMS AND CONTENT

AIMS AND LEARNING OUTCOMES

This course aims to provide students with a general understanding of the clinical implications of current knowledge about hereditary diseases and available molecular diagnostic tools.

At the end of the course, attendance, active participation in the proposed educational activities, and individual study will enable the student to:

• To recognize the main hereditary diseases relevant to primary care practice, diagnose them, and understand current and experimental therapeutic options, including innovative drugs and gene therapy
• To understand the main chromosomal aberrations and the appropriate tests for their diagnosis
• To know the principal indications for genetic tests (diagnostic, presymptomatic, predictive, prenatal); understand the main molecular methods used in routine practice, their indications, clinical applications, and limitations
• To understand the main innovative molecular methodologies ("omics") and their clinical applications
• To propose appropriate genetic tests based on their specificity, sensitivity, predictive value, and clinical utility
• To obtain informed consent for genetic testing, communicate test results and their implications to patients and families
• To understand the main goals and methods of genetic counseling
• To be aware of the characteristics and legislative context of prenatal and preimplantation genetic testing
• To communicate hereditary disease diagnoses and possibilities to patients and families; present available therapeutic alternatives for diagnosed hereditary conditions
• To manage psychological, social, and ethical issues related to hereditary disease diagnoses
• To understand the legislative context, clinical characteristics, and diagnostic approaches for rare diseases, including care pathways (PDTA) and therapeutic plans within the framework of the National Rare Diseases Plan

TEACHING METHODS

The teaching consists of 20 hours of classroom training with theoretical lessons (in the co-presence of different teachers) on all matters of the program and illustrative case reports.

Any Student with documented Specific Learning Disorders (SLD), or with any special needs, shall reach out to the Lecturer and to the dedicated SLD Representative in the Department before class begins, in order to arrange the specific teaching methods and ensure proper achievement of the learning aims and outcomes.

SYLLABUS/CONTENT

The course program includes the presentation and discussion of the following topics:

• Clinical and genetic features of hereditary diseases common in the Italian population and their practical implications, including newborn screening
• Clinical and genetic characteristics of microsatellite expansion disorders
• Clinical and genetic characteristics of neuromuscular disorders
• Chromosomal anomalies and related genetic tests
• Genetic testing during pregnancy: indications, appropriateness, results, sensitivity/specificity, and related counseling
• Current and future prenatal testing in clinical practice, including medically assisted reproduction and preimplantation diagnosis. Legislation and technological innovations. Ethical and clinical issues. Clinical case examples
• Online genetic tests: critical evaluation, advantages, disadvantages, use, and clinical and ethical implications. Ownership and confidentiality of genetic/genomic data
• Clinical features and counseling for neurodegenerative disorders (motor neuron diseases, dementias, parkinsonism, etc.), including molecular investigations and new genomic diagnostics
• Preconceptional genetic counseling: intellectual disabilities; neural tube defects, malformations, consanguinity, recurrent miscarriages, infertility, thrombophilia
• Genetic counseling and testing for late-onset hereditary diseases: general principles and specific considerations
• Rare diseases: legislative context, therapeutic plans, and diagnosis. Clinical examples and innovative therapies
• Gene therapy: availability, applications, limitations, and ethical regulations

• The course contributes to the achievement of the following United Nations 2030 Sustainable Development Goals:
  4. Ensure inclusive and equitable quality education and promote lifelong learning opportunities for all
  5. Achieve gender equality and empower all women and girls

RECOMMENDED READING/BIBLIOGRAPHY

All slides used during lectures will be available on AulaWeb (https://www.aulaweb.unige.it).
This material is strictly for personal consultation by students and must not be printed, copied, or shared on the internet or social media.
Required reading: Chapters 17 to 33 from Neri and Genuardi, “Genetica Umana e Medica”, Masson Publisher, Third Edition.

TEACHERS AND EXAM BOARD

LESSONS

LESSONS START

I semester, VI year of course

Class schedule

The timetable for this course is available here: EasyAcademy

EXAMS

EXAM DESCRIPTION

The exam consists of an online test with clinical cases and questions covering course topics, presented as multiple-choice or true/false questions. Each clinical case is structured in successive logical steps. Questions will cover all parts of the program. One point is awarded for each correct answer; zero points for incorrect or unanswered questions. A minimum score of 18/30 is required to pass.

ASSESSMENT METHODS

Further details regarding exam preparation and the depth of knowledge required for each topic will be provided during the lectures.
The written exam will assess students' understanding of topics discussed in class, including the most common hereditary diseases in the Italian population, the main types of genetic tests used in clinical practice, the main causes of chromosomal abnormalities, the ability to appropriately propose a genetic test (including informed consent), and issues related to prenatal and preimplantation genetic diagnosis.

FURTHER INFORMATION

Exam registration is strictly required via the official online system. Students registered via other means or not registered at all will not be accepted. Topics covered in class are available in the slides on AulaWeb. Any supplementary materials are indicated at the end of each lesson and are included in the slides.