Molecular diagnostics and precision medicine

• describe methods used in molecular diagnostics such as polymerase chain reaction (PCR), real time PCR, sequencing, next generation sequencing, microarrays, digital methods and laboratory automation.
• compare performance of various quantitative methods such as digital PCR, next generation sequencing and digital ELISA (enzyme-linked immunosorbent assay).
• evaluate the efficacy of molecular diagnostics to solve a clinical problem.
• identify weaknesses and limitations of methodologies for a given diagnostics situation.
• summarize and evaluate current and future technologies for microbial, cancer and genetic diagnostics.
• describe how molecular diagnostics is guiding the treatment (genetic status used for precision medicine) and preventing diseases (e.g. multiplex analysis for sub classification of microorganism).
• describe and evaluate the diagnostics used to guide immunotherapy.
• design a molecular assay including primers and probes, and choose a proper statistically sound validation strategy.
• present scientific material in clear and precise reports, posters and oral forms.
• analyse a diagnostic problem and describe a strategy to improve tests by finding new biomarkers (biomarker discovery) or apply other methodology such as point of care- or cutting edge technologies.

With the increased biological knowledge about, e.g., the human genome and the association between genes and diseases, molecular diagnostics is becoming an increasingly important tool for the health sector. In particular, molecular diagnostics is the basis for precision medicine, i.e. to provide the patient with best possible care in a given situation based on genetic information.

The course covers three clinical fields with increasing complexity of analysis and precision medicine.

The first part addresses microbiological diagnostics and associated techniques. Here the basic concepts of using virus or bacteria specific genes as biomarker for diagnosing infections are introduced. The course addresses the importance of multiplex test in order to map the genetics of the microorganism for patient stratification and different treatment options.

In the second part, monogenetic and polygenetic disorders and risk profiles are addressed. Here we aim to understand scope and impact of genetic variance on medical treatment and procedure. The associated techniques used in genetic analyses are explained and evaluated.

In the third part, cancer diagnostics and precision medicine are the focuses. Here, usage of genetic methods for quantitative measurements are addressed in order to either detect cancer at early stage or to monitor treatment results. Modern cancer drugs are very expensive and ideally only used on patients that can benefit from them. These decisions are based on molecular, often quantitative, methods. Examples to illustrate the approach is BCR/ABL transcript measurements and mutation analysis in CML patients, EGFR/Ras mutational analysis for treating colon cancers and analysis of for instance PDL1 expression for guiding immunotherapy.

Increasing usage of cutting-edge technologies such as high throughput sequencing and digital PCR combined with advanced sample preparation methods can address many kinds of samples such a cell free DNA (rare DNA), circulating tumour cells (rare cells) and exosomes (cell remnants). The course will investigate the diagnostic advantage and clinical and societal impact of such cutting-edge technologies.

27231/27232, or equivalent

The lectures are on video and the course hours are used to define, solve and discuss relevant problems. Posters, short lectures and short case descriptions are used in training sessions to identify what is important for molecular diagnostics and precision medicine. The short cases gives opportunities to get feedback on written presentations. This feedback can be used for the final report that gives the grade. The course can be followed as remote learning.

There will be assignments in smaller groups during the course, as well as internal presentations.

Minimum: 5.

Please be aware that this course will only be held if the required minimum number of participants is met. You will be informed 8 days before the start of the course, whether the course will be held.