MEDC0087 Precision Diagnosis for Precision Medicine

Module Title

Precision medicine has three essential attributes:

1)            A mechanistic understanding of the aetiology and pathogenesis of disease. 

2)            The ability to detect (diagnose in the clinical laboratory) specific causal factors.

3)            The ability to specifically treat the underlying cause(s)

The module will focus on the second of these attributes and provide examples of how precision diagnosis (instead of conventional routine specific diagnostics) can be combined with precision therapeutics to transform conditions, such as specific forms of leukemia, from a fatal disease in a manageable chronic illness.

Module aims

• Provide an overview of the different types of molecular biomarkers (macromolecules and/or metabolites) and how they are collected for diagnostics.
• Provide an overview of the technologies available to measure these markers, eg so called next generation sequencing (NGS) technologies as well as techniques used to analyse and interpret large, multidimensional data sets using biomedical informatics and systems biology techniques.
• Highlight how precision molecular diagnostics (also known as companion diagnostics) enables the prediction of efficacies of targeted therapeutics and are mandatory prerequisites for cost-effective and safe use of individual drugs and combination therapies in the clinical care setting.

Learning Outcome

• Have acquired an overview of modern molecular biomarkers (macromolecules and metabolites), how they are discovered and validated.
• Understand the technologies available to measure these biomarkers such as Next Generation Sequencing (NGS) including some of the analysis methodology needed for analysis of such datasets.
• Understand how precision technologies such as companion diagnostics can enable the prediction of efficacy of targeted therapeutics and aid in the estimation of their efficacy.