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Molecular Diagnostics

Clinical Pathology
Course code:



Roberta ROLLA



Degree program:

Course in Medical Biotechnologies









Comprehensive course:

Molecular diagnostics

Academic year:



Course objectives

This course provides an overview of the current knowledge in pharmacogenetics with functional importance for adverse drug reactions.


Knowledge and skills expectations

Thorough knowledge of Molecular Biology and Genetics (basics of genomics as well as methods to identify mutations).


Course program

The course provides the knowledge of genetic bases of variable drug response.

One of the great challenges in drug development and therapy is maximizing therapeutic response while avoiding adverse effects.

Advances in genetic knowledge, gained through sequencing, have identified heritable genetic variants that
predict drug response. Pharmacogenetics is the study of inherited genetic differences in drug metabolic
pathways which can affect individual responses to drugs, both in terms of therapeutic effect as well as
adverse effects/ toxicity.
The use of these genetic informations can play a major role in clinical practice to predict the right choice
and dose of medications for individuals, thus providing a scientific basic for “personalized medicine”. This is particularly important in the case of anticancer agents whose the therapeutic index is very narrow and a large proportion of patients do not respond.
Although the knowledge on an individual’s DNA sequence as an integral determinant of drug therapy has not yet become standard clinical practice, however several genetics recommendations/guidelines for physicians have been developed and are highlighted in the present course.

In particular, the course explores the pharmacogenetic clinical utility in:


  • antidepressant response
  • treatment of chronic pain
  • hormonal therapy with Tamoxifen (breast cancer)
  • hormonal therapy with aromatase inhibitors (breast cancer)
  • therapy with 5-Fluorouracil (colorectal cancer)
  • irinotecan treatment (colorectal cancer)
  • oral anticoagulant therapy
  • antiplatelet therapy



Practical training

Not provided


Optional activities

Not provided


Course materials

Powerpoint slides presentation


Methods of evaluation

Writing multiple choice questions

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