Clinical Genomics

Understanding genetic technologies

This module will equip you with knowledge of the principles behind commonly used molecular techniques and how to apply them. You will learn how to evaluate which laboratory investigations are most suitable for a given clinical scenario and to critically review the processes used in issuing a laboratory report, from checking samples to issuing a diagnostic report. You will also learn how to design a panel of genes for analysis using next-generation sequencing technologies applicable to a specific clinical phenotype.

(Delivered at St George’s)

Clinical interpretation of genomic data

You will learn how to analyse the key features of a genetic variant which affect the prior likelihood of pathogenicity. You will understand how to critically examine the clinical context within which a genetic variant will be interpreted. This module will teach you how to apply in silico variant analysis tools to evaluate genetic variants, equipping you with the skills to critically evaluate the report generated by in silico variant analysis tools. By the end of the module you will be able to demonstrate the interrogation of population level genomic databases with respect to a specific genetic variant alongside the interrogation of mutation databases with respect to a specific genetic variant.

(Delivered at St George’s)

Communication of genetic information and ethics

This module will teach you how to communicate effectively and sensitively to patients and their families about complex genetic data and variants of unknown significance. It will allow you to critically evaluate the ethical issues surrounding consent for genetic testing with an understanding and explanation of incidental findings. You will evaluate the ethical considerations of genetic testing and be able to formulate cogent arguments for and against testing in specific clinical scenarios.

(Delivered at St George’s)

Personal and professional development portfolio

In this module you will assemble a portfolio that demonstrates learning and progression in the application of genetic technologies, the interpretation of genomic data, and the communication of complex genetic information to patients. You will demonstrate application of the approaches undertaken in the clinical interpretation of genomic data, and will critically appraise the medical literature relevant to the interpretation of genetic data. Alongside this you will reflect on the effect of genetic test results on the patient and other healthcare professionals and on your communication skills when imparting complex genetic information to patients/families and directed literature. You will finally propose and justify your approaches to continuing professional development.

(Delivered at St George’s)

You will: select an area of interest; develop a research question and identify an appropriate method to answer that question; undertake a research project; and present your findings. You will be allocated a supervisor for your project who will contribute background knowledge on your subject and methodological expertise to support you throughout the module. This module is flexible but must be arranged by you.

Omics techniques and technologies; their application to genomic medicine

This module covers the range of multi-omics technologies, their interpretation and application in key areas of healthcare such as cancer, rare inherited diseases and infectious diseases, as well as research.

(Delivered at King’s College London)

Molecular pathology of cancer, and application in diagnosis, screening and treatment

This module provides detailed knowledge and understanding of the molecular mechanisms involved in cancer development, including how interrogation of a person’s own genome and the genome of tumour cells can facilitate the diagnosis and treatment of cancer.

(Delivered at King’s College London)

Application of genomics in infectious disease

This module shows how genomics can be used to provide more accurate diagnosis, predict which drugs are likely to be more effective, and monitor treatment and control of infectious disease in both individuals and populations.

(Delivered at St George’s)

Pharmacogenomics and stratified healthcare

This module provides a comprehensive overview of the analytical strategies and techniques used in pharmacogenomics and explores some of the challenges and limitations in this field. It also provides an overview of the different type of genomic biomarkers currently in use or emerging.

(Delivered at King’s College London)

Bioinformatics, interpretation and data quality in genome analysis

This module provides the knowledge and understanding required to critically interpret existing genomic research and develop the skills to formulate research questions. It also provides the skills to collect, analyse and interpret NHS data using a basic range of statistical and bioinformatics techniques.

(Delivered at King’s College London)

Ethical, legal and social perspectives on genomic medicine

This module aims to provide a framework for ethical understanding of medical genomics. You will be provided with a platform of ethical understanding from which to consider issues of human confidentiality, autonomy, disclosure, informed consent and natural justice. 

(Delivered at St George’s)

Cardiovascular genetics and genomics

The aim of this module is to introduce students to the role of genomics in the pathogenesis of cardiovascular disease, both in terms of common and rare disease. You will learn about the impact our growing knowledge of the genomic aetiology of these conditions is having on management.

(Delivered at St George’s)

The learning objectives will be achieved through a teaching scheme delivered through three key domains: knowledge, skills and attitudes. You will learn through mixture of face-to-face and online teaching, workshops, and self-directed learning through online and library resources. A secure knowledge base will then provide a platform to develop your skills of data interpretation in the context of clinical phenotyping. This will primarily be achieved through workshop sessions, assignments and portfolio development. The third domain, attitude, emphasises the need for you to develop the skills to effectively communicate complex genomic data and discuss ethical considerations such as the identification of incidental findings.

The assessments have been designed to reflect the knowledge, skills and attributes articulated in the programme. Each module will have its own discrete assessment specifications related to the intended educational aims and learning outcomes of the module mapped to the programme outcomes.

For all taught modules, you will be assessed by up to two summative assessments. Formative assessment will be provided by regular meetings with your educational/laboratory supervisor. Each assessment has specific assessment criteria which will be published in the student handbook. Summative assessments include, for example, oral presentations, written assignments, which will be double (blind) marked by trained assessors, an online multiple choice question (MCQ) examination, and role play. The research module will be assessed through supervisor feedback and a written report.