Study-Unit Description

Study-Unit Description


TITLE Pharmacogenetics and Pharmacogenomics

UM LEVEL 01 - Year 1 in Modular Undergraduate Course



DEPARTMENT Clinical Pharmacology and Therapeutics

DESCRIPTION The study-unit will provide students with a sound basis and understanding of the contributions of genetic variability to therapeutic and adverse drug related outcomes.

Students will learn different mechanisms of how genetic variability may alter a patient's disposition to a drug, and how pharmacogenetics may contribute to predicting such altered pharmacological outcomes. The role of pharmacogenetics in personalized medicine will be emphasized.

Moreover, the study-unit will discuss tools available to identify novel pharmacogenetic variants, and the relevance of ethnicity and population genetics to the functional interpretation of such data. Pharmacogenetic and pharmacogenomic methodologies will be described.

Students will be taught how to use relevant official online knowledgebases (e.g. PharmGKB, CPIC) in order to be able to retrieve reliable and evidence-based pharmacogenetic/pharmacogenomic data, as well as consult appropriate guidelines which provide information on how to best manage patients who carry specific pharmacogenetic variants. Hands-on tutorial sessions will be organized for this purpose.

Study-unit Aims:

- Provide students with a sound understanding of how genetic variability may contribute to altered drug efficacy and toxicity;
- Provide students with an understanding of the principles of human genetics and genomics with respect to prediction of drug therapy outcomes, as well as drug therapy optimization and patient care;
- Empower students to interrogate official data repositories, and correctly interpret the provided data, in order to provide recommendations on patient-centered drug therapy optimization.

Learning Outcomes:

1. Knowledge & Understanding
By the end of the study-unit the student will be able to:

- Review in detail the basic principles of human genetics and heredity as they apply to inter-individual variation in treatment response;
- Outline how variability in various pharmacogenes (e.g. those encoding drug metabolizing enzymes, drug transporters and drug receptors) as well as regulatory DNA domains, can contribute to variability in therapeutic drug outcomes;
- Identify pharmacokinetic and pharmacodynamic gene variants;
- Discuss the relevance and impact of pharmacogenomics with respect to different therapeutic classes, including major areas such as neuropharmacology, oncopharmacology, cardiovascular and respiratory pharmacology, endocrine pharmacology, and anticoagulant pharmacology.

2. Skills
By the end of the study-unit the student will be able to:

- Discuss published studies which report the clinical consequences of pharmacogenomics on therapeutic efficacy or toxicity;
- Apply pharmacogenomic concepts to a particular drug therapeutic regimen;
- Recognize the ethical implications of genetic testing, issues related with its interpretation, and the contribution towards the individualization of drug therapy;
- Identify and correctly use key sources and reliable pharmacogenomics related knowledgebases.

Main Text/s and any supplementary readings:

Main text:

- Ritter JM, Flower RJ, Henderson G, Loke YK, MacEwan D, Rang HP. Rang & Dale's Pharmacology. 9th Ed. 2019. Elsevier.

Supplementary readings:

- Altman RB, Flockhart D, Goldstein DB. Principles of Pharmacogenetics and Pharmacogenomics. 2012. Cambridge University Press.
- Maitland-van der Zee AH, Daly AK. Pharmacogenetics and Individualized Therapy. 2012. Wiley.
- Brunton L, Knollmann B, Hilal-Dandan R.Goodman and Gilman's The Pharmacological Basis of Therapeutics, 13th Ed. 2017. McGraw-Hill Education.


- Molecular pharmacology. Published by the American Society for Pharmacology and Experimental Therapeutics.
- British Journal of Pharmacology. Published by the British Pharmacological Society.
- British Journal of Clinical Pharmacology. Published by the British Pharmacological Society.

STUDY-UNIT TYPE Lecture, Independent Study & Tutorial

Assessment Component/s Assessment Due Sept. Asst Session Weighting
Examination (2 Hours) SEM2 Yes 100%

LECTURER/S Bernice Azzopardi Meli
Janet Mifsud
Michael Portelli


The University makes every effort to ensure that the published Courses Plans, Programmes of Study and Study-Unit information are complete and up-to-date at the time of publication. The University reserves the right to make changes in case errors are detected after publication.
The availability of optional units may be subject to timetabling constraints.
Units not attracting a sufficient number of registrations may be withdrawn without notice.
It should be noted that all the information in the description above applies to study-units available during the academic year 2023/4. It may be subject to change in subsequent years.