INTRODUCTION TO OMICS SCIENCES IN THE DIAGNOSTIC FIELD

Knowledge and understanding: The student will acquire knowledge of the theoretical and methodological principles underlying the main approaches applied to molecular diagnostics, with particular reference to the molecular profiling of oncological diseases in the fields of precision oncology, precision diagnostics, and targeted therapy. The student will also be guided to understand the principles and applications of liquid biopsy, with particular reference to the identification, isolation, and molecular characterization of cell-free circulating DNA (cfDNA) and circulating tumor cells (CTCs), as well as to single-cell analysis approaches.

Applying knowledge and understanding: The student will acquire the ability to apply the main methodologies used in molecular diagnostics and to characterize genomically relevant alterations in oncology.

Making judgements: The student will develop the ability to critically evaluate the results of molecular analyses by integrating sequencing data with information available in reference databases, and to select the most appropriate diagnostic methodology according to the specific diagnostic question.

Communication skills: The student will acquire the ability to appropriately describe and communicate methodological principles, molecular analysis results, and their diagnostic significance, using appropriate technical and scientific terminology.

Learning skills: The student will acquire the methodological foundations necessary to independently understand and use the main genomic analysis strategies applied to oncological diagnostics.

Precision medicine: introduction, biomarkers and targeted therapy
Introduction to precision medicine and its role in molecular diagnostics. Definition and classification of biomarkers, with particular reference to molecular biomarkers used for diagnosis, prognosis, and prediction of treatment response. Principles and applications of targeted therapy and the relationship between molecular alterations, biomarkers, and therapeutic decision-making.

Advanced molecular diagnostics: introduction and role in precision medicine
Principles of advanced molecular diagnostics and the main methodologies used for the molecular characterization of oncological diseases. Role of molecular analysis in the identification of genomic alterations and in defining the molecular profile of tumors, with particular reference to applications in precision diagnostics.

Advanced molecular diagnostics: approaches and methodologies
Main molecular diagnostic techniques, including PCR, ddPCR, and Sanger sequencing. Introduction to the main -omics disciplines, with particular emphasis on genomics and its application to the molecular characterization of oncological diseases within the field of advanced molecular diagnostics.

Liquid biopsy: cfDNA and CTCs
Principles and applications of liquid biopsy in oncology diagnostics. Biological and diagnostic characteristics of circulating cell-free DNA (cfDNA) and circulating tumor cells (CTCs).

Consultation of major databases for clinical variant interpretation
Introduction to the main genomic and clinical databases used for the classification and interpretation of variants. Retrieval and evaluation of information regarding the clinical relevance of genomic variants and use of the main available resources to support the interpretation of molecular findings.

Development of an NGS-based workflow for molecular diagnostics
Definition of the main steps of an NGS-based diagnostic workflow, from sample selection and preparation to the generation, analysis, and interpretation of sequencing data. Selection of the appropriate methodology according to the specific diagnostic question and evaluation of the main quality parameters.

Generation and interpretation of a molecular report associated with a molecular profile
Preparation, development, and interpretation of a molecular diagnostic report. Structure and main components of a molecular diagnostic report and appropriate communication of results in relation to the diagnostic question.

Theoretical and practical exercises on the molecular analysis of clinical cases
Analysis and discussion of clinical cases through the application of the methodologies presented during the course, aimed at defining the molecular profile and establishing the molecular diagnosis. These activities will be complemented by guided visits to an advanced molecular diagnostics laboratory, with particular reference to NGS-based workflows. During the visits, the main stages of the diagnostic process will be illustrated, from sample handling and preparation to sequencing procedures, with particular attention to the instrumental component, the main platforms and equipment used, and the subsequent stages of data analysis and interpretation, aimed at generating and reporting the molecular profile.

The examination is aimed at thoroughly assessing the student’s level of preparation, analytical and critical reasoning skills on the topics covered during the course, as well as their proficiency and appropriateness in the use of technical terminology.

The final grade will be assigned according to the following indicative criteria:

Fail: insufficient knowledge of the fundamental concepts; inadequate use of technical language and/or inappropriate presentation; inability to address and solve the questions posed.

18–23: essential knowledge of the basic contents; limited clarity of presentation and ability to establish connections between concepts; partial resolution of the questions posed; limited proficiency in the use of technical terminology.

24–27: good knowledge and understanding of the topics covered; clear presentation and adequate ability to establish connections between concepts; correct resolution of most of the questions posed; good proficiency in the use of technical terminology.

28–30 cum laude: comprehensive mastery of the course contents; clear, structured, and well-developed presentation; strong critical ability to establish connections between concepts; complete and accurate resolution of the questions posed; excellent proficiency and appropriateness in the use of technical terminology.

Omics Sciences

Advantages of liquid biopsy

NGS technology

Gene panels

Clinical variant annotation and calling

How to generate a molecular profiling report