Genomic Medicine

As genomic technologies are implemented across most clinical specialities, individuals with expertise in genomic medicine are playing a key role in enabling healthcare professionals to learn, understand and integrate genomic data into clinical practice.

This module offers you the opportunity to study and apply the traditional and contemporary strategies and techniques used to identify genes responsible for both rare inherited (Mendelian) disorders and common polygenic diseases.

You will use examples taken from clinical practice of the most frequently encountered disorders to explore the landscape of common and rare inherited diseases. You will develop an appreciation of the utility of genomic approaches in dissecting the underlying biology of genetic disease, including complex disorders, and how this knowledge can be used to improve patient outcomes.

You will also learn about approaches in management and treatment of patients and their families, as well as examining the role of genomics in a care pathway, while considering both patient and family perspectives. The module also provides practical examples that highlight how patients with unmet diagnostic needs can benefit from whole exome or whole genome sequencing.

Module lead: Professor Derek Blake

Teaching dates: 2 December 2024 - 28 February 2025

The WHO defines Public Health as all organised measures (whether public or private) to prevent disease, promote health, and prolong life among the population as a whole.

Within the healthcare system, the application of genomics with respect to infectious disease is best understood in the context of public health. This is because, pathogen genomic data is applicable in many ways, from diagnosis at a patient level, up to the tracking of pandemics at a global level.

This module will provide students with a public-health/clinical led understanding of Infectious disease and clinical pathogen genomics. The module will provide an introduction to pathogen biology, covering pathogen fundamentals, including core pathogen biology, pathogen transmission, pathogen genome structure and drug resistance.

The fundamental understanding of pathogen biology will then enable learners to be introduced to the application of genomics in public health, from patient to population. The module will examine pathogen genomics through the lens of public health and its widespread application, relating infectious disease genomics to the three domains of Public Health - Prevention, Protection and Promotion.

Module lead: Professor Thomas Connor  - working with Dr Fu Meng Khaw

Teaching dates: 21 April - 27 June 2025

"Omics" describes a range of analytical technologies, including genomics, transcriptomics, metabolomics and proteomics, that are used to characterise large pools of biological molecules.

While genomics and transcriptomics often involve the use of next generation sequencing (NGS) there are a range of technologies that can be used to explore the metabolome and proteome. Collectively these technologies can be used to identify genetic variants and biomarkers and can provide functional insights into disease mechanisms and treatment responses.

This module provides a comprehensive introduction to a range of "omics" techniques with an emphasis on the use of NGS in healthcare. Topics covered in this module include:

• Exome and whole genome sequencing, including comparison of different sequencing platforms and chemistries
• Approaches to the evaluation of pathogenicity of variants in the context of an NHS clinical report
• Methods to assess the transcriptome including RNA sequencing and spatial-transcriptomics,
• A critical appraisal of biomarker discovery and clinical applications of proteomics, metabolomics and lipidomics.

Module lead: Dr Hywel Williams

Teaching dates: 24 February - 9 May 2025

Over the past decade there have been significant changes to how cancer patients are managed, with increased focus on precision medicine and patient stratification.

These advances would have been impossible without understanding the molecular mechanisms driving tumour initiation and progression, the genomic signatures that expose the common features shared between different cancers, and paradoxically, highlight the uniqueness in each. Genes and genetic alterations are the foundation to cancer development.

This module delivers a critical insight into the molecular mechanisms of cancer initiation and progression, DNA repair and its role in maintaining genome stability, the mechanisms of cancer metastasis and the role of the tumour microenvironment.

You will learn about the molecular basis of cancer, germline and somatic genomic variants that can increase cancer risk and progression, and the ethical considerations of genetic screening. This module highlights how advances in the genomic analysis inform patient stratification and treatment and introduces the concepts of pharmacogenomics and personalised medicine in cancer.

Module lead: Dr Zara Poghosyan

Teaching dates: 30 September - 16 December 2024

This module aims to equip you with the counselling and communication skills to support patients whose care will be influenced by genomic investigations. You will bring the experience of your current clinical practice, and be taught the knowledge, skills and behaviours to incorporate genomic healthcare into your role.

You will develop your understanding of when genomic testing may be offered in healthcare, and the ethical and social implications of this, including the important of informed consent for testing. You will be taught how to communicate with and provide appropriate support to individuals and their families.

Development of counselling skills will be achieved via theoretical and practical sessions.  You will have the opportunity to learn how to record and interpret a family history, how to discuss genomic testing with your patients, and how to deliver results appropriately.

Module lead: Dr Nicky Taverner

Teaching dates: 27 January - 9 May 2025

Key teaching dates (attendance required):

• Wednesday 29 January 2025 1-2pm - live online tutorial via Microsoft Teams.
• Wednesday 26 February 2025 2-3pm or Friday 28 February 2025 11am-12pm - live online tutorial via Microsoft Teams (attendance at one session required).
• Tuesday 1 and Wednesday 2 April 2025 (all day) - in-person teaching block at University Hospital of Wales in Cardiff.

Assessment dates:

• Written patient information assessment: due Thursday 20 March 2025
• Recorded video assessment: due Wednesday 2 April 2025 (completed during in-person teaching block)
• Written case study assessment: due Thursday 1 May 2025

The last decade has seen an exponential increase in genome sequencing that has revolutionised the diagnosis, treatment, and prevention of many diseases. These advances in genome medicine are reliant on bioinformatics and computational biology to align sequences to reference genomes and accurately identify clinically-relevant sequence variants.

This module provides a comprehensive introduction to the bioinformatic analysis of genomic data with an emphasis on the use of next generation sequencing (NGS) in healthcare.

Topics covered in this module include:

• NGS quality control and alignment to a reference genome
• Variant calling
• Single nucleotide polymorphisms (SNPs) and insertions and deletions (INDELs) from aligned sequence
• Computational approaches to assess the functional effect of variants and standards for bioinformatics data sharing in healthcare pathways.

Module lead: Dr Ric Anney

Teaching dates: 3 March - 23 May 2025