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

Work and teaching methods include lectures, assignments, literature searches and laboratory work. The course entails a half-day’s practical training visit to an external laboratory.

Parts of the teaching used is the ‘flipped classroom’, where digital learning resources will be made available to students in advance and the time they spend at the university will be used to work on assignments and group work. Self-study, activity, reflection and cooperation is a pre-condition for completion of the course.

In order to be permitted to take the exam, the following must have been approved:

• a minimum of 90 per cent attendance in laboratory teaching
• laboratory reports in accordance with specified criteria

Supervised individual written exam, 4 hours

Alphanumeric/financial calculator with cleared memory. A digital calculator is available to the student during the exam.

A-F.

All answers are assessed by two examiners. An external examiner is used regularly, at a minimum of every third completion of the course. When selecting answers for external evaluation, a minimum of 10 percent of the answers shall be included, with no fewer than 5 answers. The external examiner’s assessment of the selected answers shall benefit all students.

10 credits overlap with BIO3200 Molecular Genetics