Genomic Medicine (Online) PGCert

• Fundamentals of Human Genetics and Genomics

  Students undertaking this module will review the architecture of the human genome and the functional units embedded in it. Students will also cover aspects of gene regulation and chromatin structure and consider the importance of the epigenome. In addition, this module will cover DNA sequence variation and structural variation, exploring how this variation is “normal” but that sometimes it can be associated with disease. Students will learn about monogenic and multifactorial genetic disorders and the most appropriate methods for identifying causal and contributory variants. Students will also learn about some of the most common chromosomal abnormalities and the methods for detecting these in the laboratory. In essence, this module covers what the genome is, what variants can arise and how they arise, how best to identify these variants and what the clinical implications of these variants may be. This module is assessed with a 15 - 25 minute pre-recorded PowerPoint presentation of a case analysis.

• Genomics of Common and Rare Inherited Diseases

  This module will initially explore the clinical presentation, diagnosis, management and treatment of a range of common and rare inherited diseases. The principles and practice of medical genetics and genomics, and the management and treatment of patients and their families will be discussed. In addition, the role of genomics in a care pathway will be examined, including the patient and family perspective. This module will explore the traditional and current approaches used to identify genes responsible for common and rare inherited diseases, focusing on the latter. Students will explore the analytical challenges in genomics, as applied to rare inherited diseases. The module will also cover key initiatives such as the development of genomic medicine services and the infrastructure supporting incorporation of genomic testing into the NHS. This module is assessed with an analysis of rare and common disease cases involving exome sequencing data.

• Variant Interpretation

  This module will explore the genomic variants among individuals and populations, benign, pathological or of unknown significance, and the tools used by healthcare professionals to identify and interpret these and inform patient care. Students will cover tools used in variant interpretation, such as population databases, in silico analysis, functional data and phenotyping. Also introduced will be the national/international guidelines for genomic variant interpretation, and how variants are classified/weighted along these frameworks based on the tools learnt within the module. Beginning with an introduction to the identification of variants using next generation sequencing, students will cover genomic transcript nomenclature, classification under recognised guidelines, and patient case studies. This will be followed by coverage of a range of clinically employed variant interpretation tools, the ethics of variant interpretation, and end with applying these in the context of ACMG/ACGS frameworks, including pathogenicity, population analysis, as well as predictive, functional and segregational data. Brought together, this module will prepare students for understanding and applying variant interpretation in a clinical setting. This module is assessed with a Multidisciplinary Team Discussion (MDT) simulation.

Students can complete their remaining credits by selecting optional modules, studying alongside students from other courses.

• Genomics of Cardiovascular Disorders

  This module explores the burden of cardiovascular disease and the underlying contribution of genetics to these diseases. Students will receive refresher sessions focused on cardiac function as well as being introduced to the key diagnostic tools used in cardiology. They will learn about the major arrhythmias and cardiomyopathies, which can lead to premature and sudden death. By studying genetic causes of lipid disorders students will understand the impact of rare and common genetic variants on the risk of coronary heart disease. The contribution of "big data" in disease diagnosis and the development of novel drugs will be discussed to demonstrate some of the benefits that genomics can offer to this group of diseases. Students will hear about the role and challenges of genetic counselling in inherited cardiac conditions. This module is assessed with a 2000 - 2500 word scenario-based essay.

• Genomics of Neurological Disorders (15 Credits)

  This module explores the contribution of genomics to neurological disorders. Students will receive refresher sessions focussed on neuroanatomy and the development of the neurological system followed by an introduction to the key diagnostic tools used in neurology. They will learn about the major neurological disorder categories which have a high genetic contribution. The module will explore the value of the multidisciplinary team in phenotyping, interpretation of results, management and family communication. This module is assessed with a 1500 - 2000 word scenario-based essay.