MOLECULAR DIAGNOSTIC TECHNIQUES
- Overview
- Assessment methods
- Learning objectives
- Contents
- Full programme
- Bibliography
- Delivery method
- Teaching methods
- Contacts/Info
Knowledge of genetics and molecular biology methods (particularly PCR) is required, together with basic knowledge of microbiology and immunology.
Oral examinations will consist of open questions on lectures’ topics, aimed at testing:
1. Knowledge and comprehension of the theoretical bases underlying specific diagnostic tests, their limits, advantages and disadvantages, when applied to specific diagnostic queries; knowledge of information to be provided in a diagnostic report for a specific molecular test;
2. Ability to acquire relevant information from a scientific report and to identify critical aspects in a diagnostic method, when applied to a specific clinical query;
3. Ability to apply the acquired expertise to design new molecular tests;
4. knowledge of the criteria needed to set up an accredited diagnostic laboratory;
The final score is given in 30ies: the examination is successful if a score ≥ 18/30 is obtained
The main objective of the “Molecular Diagnostic Techniques” course is to make the student familiar to the procedures used in a Laboratory of Molecular Diagnostics.
The course will deal with evaluation of the features of a diagnostic test (sensitivity, specificity, predictivity), with the requirements to set up a molecular diagnostics laboratory and with the choice of the test menu to be offered. Finally, the course will provide basic information on how to obtain certification and accreditation. It will describe the techniques commonly used in diagnostics and molecular pathology laboratories and their underlying principles, advantages and limitations and will describe possible applications, making several examples.
At the end of the course, the student will:
- acquire knowledge on how to set up a diagnostic laboratory, a new diagnostic test, how to report diagnostic test results and how to ensure quality control in diagnostics, including accreditation and certification;
- acquire knowledge methods of Molecular Biology and Molecular Genetics applied in Molecular Diagnostic laboratories, including their theoretical bases;
- read critically guidelines and papers dealing with methods or clinical applications and understand the correct execution and interpretation of a molecular test;
- ability to apply the knowledge acquired in the field of Molecular Diagnostics to make decisions on the molecular assay to be applied to particular diagnostic queries - apply an analytical approach in the Molecular Diagnostic field;
- apply a problem-solving approach for specific Molecular Diagnostic requests
The course is organized in class lectures (32 hours). Activities, such as visits at Molecular Diagnostics accreditated centers or seminars held by professionals employed in relevant Molecular Diagnostics structures may be planned each year.
Class lectures will deal with the following topics:
- procedures to set up an accredited and certified laboratory of Molecular Diagnostics;
- Quality management;
- development of molecular tests, including their requirements in terms of specificity, sensitivity and other clinical parameters;
- data to be included in the clinical report regarding molecular diagnoses;
- ethical concerns on genetic testing.
Molecular techniques applied to molecular diagnostics as well as their main applications will be described:
1) Basic techniques such as amplification by Polymerase Chain Reaction (PCR), including primer design; DNA ligation and nucleic acids hybridization techniques, necessary to understand more sofisticated and specific protocols;
2) Mutation detection techniques;
3) Mutation screening techniques and sequencing (including pyrosequencing and Next generation sequencing);
4) Genotyping techniques and their applications (forensic analysis, transplants, farmacogenetics);
5) Qualitative and quantitative techniques for gene expression analyses, and for microbial/viral detection and identification, in order to provide information for diagnosis, prognosis, therapy and monitoring of therapy efficacy (including real time PCR, ddPCR, Next Generation Sequencing, Nanostring, branched DNA);
6) Molecular cytogenetics applied to the detection of cryptic chromosomal aberrations;
7) Techniques for analysis of DNA methylation defects (tumours, imprinting defects).
The course will be enriched with several examples of application, and will also provide a brief description of pathologies or potential ethiological agents where the specific techniques can be applied for diagnostic/prognostic purposes.
Finally, the lecturer will engage the students in interactive discussion on selected “case reports” in which, after providing information needed to define the clinical setting, we will use the competences acquired during the course to choose the techniques best suited to answer the diagnostic query, taking into account limits, advantages and disadvantages of each technique and the data that will be necessary to include in the diagnostic report.
Class lectures will deal with the following topics:
- procedures to set up an accredited and certified laboratory of Molecular Diagnostics;
- Quality management;
- development of molecular tests, including their requirements in terms of specificity, sensitivity and other clinical parameters;
- data to be included in the clinical report regarding molecular diagnoses;
- ethical concerns on genetic testing.
Molecular techniques applied to molecular diagnostics as well as their main applications will be described:
1) Basic techniques such as amplification by Polymerase Chain Reaction (PCR), including primer design; DNA ligation and nucleic acids hybridization techniques, necessary to understand more sofisticated and specific protocols;
2) Mutation detection techniques;
3) Mutation screening techniques and sequencing (including pyrosequencing and Next generation sequencing);
4) Genotyping techniques and their applications (forensic analysis, transplants, farmacogenetics);
5) Qualitative and quantitative techniques for gene expression analyses, and for microbial/viral detection and identification, in order to provide information for diagnosis, prognosis, therapy and monitoring of therapy efficacy (including real time PCR, ddPCR, Next Generation Sequencing, Nanostring, branched DNA);
6) Molecular cytogenetics applied to the detection of cryptic chromosomal aberrations;
7) Techniques for analysis of DNA methylation defects (tumours, imprinting defects).
The course will be enriched with several examples of application, and will also provide a brief description of pathologies or potential ethiological agents where the specific techniques can be applied for diagnostic/prognostic purposes.
Finally, the lecturer will engage the students in interactive discussion on selected “case reports” in which, after providing information needed to define the clinical setting, we will use the competences acquired during the course to choose the techniques best suited to answer the diagnostic query, taking into account limits, advantages and disadvantages of each technique and the data that will be necessary to include in the diagnostic report.
The lecturer will upload the following materials on the e-learning platform:
1) Pdf files of powerpoint slides used during the lectures;
2) scientific papers and guidelines for in-depth reading of specific topics;
3) “Clinical Molecular Genetics Society (CMGS)” guidelines, focused either on specific techniques explained in the course or in pathologies used as application examples
Textbooks suggested for consultation:
- Patrinos, Danielson, Ansorge. Molecular Diagnostics. 3rd edition, Academic Press, 2016.
- Coleman, Tsongalis. Diagnostic Molecular Pathology: a guide to applied molecular testing. 1st edition. Academic Press, 2017.
- Strachan, Read. Human Molecular Genetics. 5th Edition, CRC Press 2019
- Buckingham L., Molecular Diagnostics. Fundamentals, Methods and Clinical applications. 3rd edition, F.A. Davis Editor, 2019
32 hours of lectures, using powerpoint slides and videos. Students’ interaction will be strongly encouraged in class.
The lecturer is available for explanations upon appointment, to be asked by email.
Professors
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Degree course in: MOLECULAR AND INDUSTRIAL BIOTECHNOLOGY