Clinical Genomics

Objectives

Once the students have a good knowledge of the mechanisms involved in the functioning of nucleic acids in the cell (molecular genetics subject) and have become familiar with analysis techniques (Omics Technologies, and Bioinformatics and Omics data subjects), clinical genomics completes the training in this field, with particular emphasis on clinical applications.

The main objectives are:

• To understand the fundamental aspects of genomics (composition, structure, organisation of the genome).
• To know the methodology and tools of clinical genome analysis.
• To understand the importance of molecular genetics in biomedicine.
• To recognise and interpret genomic diagnostic tests.
• To understand clinical applications of genomics.
• To understand the regulatory, legal and ethical aspects of clinical genomics.

Learning outcomes

Students will:

• Acquire and demonstrate advanced knowledge of the theoretical and practical aspects and work methodology in the field of biomedicine.
• Use the methodologies and technologies for the cloning and characterisation of nucleic acids and apply them correctly in the design of experiments.
• Employ the basic concepts of genetic engineering and genomics including their clinical application.
• Recognise the different omics technologies (DNA sequencing, transcriptome analysis and proteome analysis) and their applications to biomedicine.
• Organise the storage and custody of omics data.
• Apply the main research methods used in forensic medicine.

Competencies

General skills

• Carry out professional activities independently with initiative and respect for other health professionals.
• Formulate hypotheses following the scientific method, with an ability to summarise and analyse information in a critical way in order to be able to solve problems.

Specific skills

• Combine knowledge of the molecular, cellular, genetic and epigenetic principles of the most prevalent diseases.
• Evaluate technological advances for the diagnosis, prognosis and treatment of disease.
• Recognise the applicability of genetic engineering methods and omics technology in preclinical and clinical research.
• Use key analytical and imaging techniques, and basic technological instruments, following customary preclinical research laboratory protocols.

Basic skills

• Students can apply their knowledge to their work or vocation in a professional manner and have competencies typically demonstrated through drafting and defending arguments and solving problems in their field of study.
• Students have demonstrated knowledge and understanding in a field of study that builds on general secondary education with the support of advanced textbooks and knowledge of the latest advances in this field of study.
• Students have the ability to gather and interpret relevant data (usually within their field of study) in order to make judgements that include reflection on relevant social, scientific and ethical issues.

Core skills

• Bring to bear values of entrepreneurship and innovation in one's academic and professional careers.
• Exercise active citizenship and individual responsibility with a commitment to democratic values and sustainable development.
• Make use of professional skills in multidisciplinary, complex, networked environments, whether on-site or online.
• Reflect critically on knowledge of all kinds, with a commitment to professional rigour and quality.

Content

The course content is divided into 5 parts:

• Part 1. Fundamental aspects of genomics
• Part 2. Methodology, tools for clinical analysis of the genome
• Part 3. Interpretation and genomic diagnosis
• Part 4. Clinical applications of genomics
• Part 5. Regulation, legal and ethical aspects of clinical genomics

Evaluation

• Continual Assessment: 20%
• Assignments, activities: 32%
• Final exam: 48% (may be retaken). Minimum pass mark 4.5

Reassessment

• Make-up exam: In the case of failure, a maximum of 50% of the final mark may be retaken in the make-up exam.

General evaluation criteria of the Faculty

• Possession of mobile phones or similar devices (smartphones, tablets, etc.) during exams will result in a 0 on the test.
• Absence or failure to complete an assignment within the established deadlines will result in a gr 0. This qualification is taken into account when calculating the final course grade.
• The final course grade is calculated from the weighted average of all assignments.

Methodology

• Mainly theoretical lectures, discussions (seminars) and workshops.
• Theoretical content is based on applied examples.
• Some activities are developed through teamwork.

Bibliography

Key references

• Kulkarni S & Pfeifer J (2015). Clinical Genomics. Elsevier Inc.
• Kumar, D. & Antonarakis, S. (2015). Medical and Health Genomics. Retrieved from https://www-sciencedirect-com.biblioremot.uvic.cat/book/9780124201965/medical-and-health-genomics

Further reading

Teachers will provide complementary bibliography and compulsory reading throughout the course via the Virtual Campus.