BIOB3200 Genetics and Molecular Diagnostics Course description

The course deals with genetics, genes, DNA structure and function, and elucidates different approaches to how the field is studied and applied clinically. Gene technology methods are used in many of the health services’ laboratories - medical genetics, microbiology, pathology, biochemistry, hematology and immunology. Among other things, the methods are used in disease diagnostics, individually adapted medication and in the detection of infectious microorganisms. In addition, a range of genetic analyses can be carried out to map hereditary factors and risks relating to the development of disease in future. This is strictly regulated in the Biotechnology Act. Ethical aspects of genetic analyses are therefore a key part of the course. The DNA analyses are used to identify persons, for instance in forensic medicine, which is not part of the health service.

In order to carry out the analyses and process and understand the results from the different fields, it is important to have knowledge of the methods used and have background knowledge of DNA and genes. Large quantities of data from new technology also makes requirements of competence and skills in bioinformatics.

• Passed first and second year or equivalent of the Bachelor’s Programme in Biomedical Laboratory Sciences, or
• Admitted to the Complementary Education in Biomedical Laboratory Science

After completing the course, the student is expected to have achieved the following learning outcomes defined in terms of knowledge, skills and general competence:

Knowledge

The student

• can describe the structure of the human genome and different types of inheritance
• can describe different forms of genetic variation and their significance
• can explain gene regulation
• can explain the significance of DNA damage, how it can occur and how it can be repaired
• is familiar with the use of tumor markers and other biomarkers in patient diagnostics and individually adapted medicine
• can describe the principles behind the most common analysis methods in molecular diagnostics and explaining the methods’ areas of use
• is familiar with different forms of non-invasive prenatal testing (NIPT)
• can describe how DNA analyses can be used for personal identification in forensic medicine
• can describe different sequencing technologies and their areas of use
• can explain how chromosome anomalies and hereditary diseases can be determined by using different methods
• is familiar with the laws and regulations that regulate genetic testing and the requirements relating to genetic counselling
• is familiar with methods and laws relating to sperm donation, egg donation and in vitro fertilisation

Skills

The student

• can conduct and quality assure different gene technology methods and assess any sources of errors related to these
• can apply analysis instruments used in molecular diagnostics
• can process data and interpret the results of different genetic/DNS analyses, both technical and biomedical
• can carry out bioinformatics analyses of sequencing data from different sequencing platforms
• can collect information from different databases and using basic bioinformatics tools
• can carry out work using gene technology methods in a responsible manner to minimise the risk of contamination

General competence

The student

• can discuss social and ethical consequences of gene testing in a medical perspective

Admission requirements.

Students who complete the course are expected to have the following learning outcomes, defined in terms of knowledge, skills and general competence:

Knowledge

On successful completion of the course, the student in depth knowledge:

• Identify contemporary issues and challenges in healthcare delivery in particular diagnostics.
• Identify unmet biomedical and/or healthcare needs and apply engineering and life science principles for designing appropriate solutions.
• Apply appropriate engineering and analytical principles to decipher, understand, and describe situations and problems in living systems.
• Describe the key design considerations relevant to the development of diagnostics.
• Describe the experimental tools and techniques used in diagnostic applications.

Skills

On successful completion of the course, the student can:

• Solve quantitative problems in living systems using appropriate engineering and analytical concepts and calculations.
• Collect, analyze, and critically evaluate experimental data.
• Define the technical and practical factors that influence the performance of diagnosis.
• Design solutions to current unmet biomedical and healthcare needs, taking into account key technical and practical considerations.

General competence

On successful completion of the course, the student can:

• Communicate technical information clearly and concisely in oral and written form.
• Demonstrate effective technical and scientific communication skills through the execution of various laboratory modules and projects.
• Read scientific journal papers with a cross-disciplinary approach.

Students will learn through a combination of interactive lectures, case studies, literature analyses, and guest lectures. Internal presenters in the course are from different departments. External presenters are from hospital, medical companies and interest organization with a cross-dissiplinary background.

None.

Individual assignment (report) counts for 70% of the final grade, and oral presentation of selected material (30 minutes per candidate) that counts 30 % of the final grade. Review assignment of report on a chosen subject, maximum 10 pages. To be submitted no more than two weeks after the end of the course.

Both individual assignment (report) and oral presentation must be passed in order to pass the course. The oral presentation cannot be appealed.

None.

A panel of all presenters in the course, and at least one external representative will evaluate the report and the presentation.