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Genomics of Common and Rare Inherited Diseases

Module description

This module is available either via blended learning with contact days on-campus supported by online learning, or as fully distance learning via our online platform.

This module explores the genetic basis of common and rare inherited disorders. The principles and practice of medical genetics and genomics, and the management and treatment of patients and their families will be discussed. Utilizing exemplars, the module demonstrates the clinical utility of genomic data in healthcare settings. You will learn about contemporary approaches used to identify genetic causes of disease, with a focus on rare inherited diseases.

The module will also address the integration of genomic data into clinical pathways, emphasizing the impact of advances in genomic technologies on patient care. The role of genomics in care pathways will be explored from both patient and family perspectives, as well as the diagnostic and therapeutic implications of genomic data. Additionally, you will learn to identify patients with unmet diagnostic needs who may benefit from exome or genome sequencing and will be introduced to the complexities of interpreting genomic data in clinical contexts. 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.

Module aims - intentions of the module

The aim of this module is to provide you with a thorough understanding of the genetic basis and clinical management of common and rare inherited diseases, highlighting the practical application of genomic data in healthcare. Through the exploration of contemporary genomic approaches you will learn to integrate genomic data into clinical pathways, assess its impact on patient care and address the complexities of genomic data interpretation within various healthcare contexts.

Intended Learning Outcomes (ILOs)

ILO: Module-specific skills

On successfully completing the module you will be able to...

• 1. Explain the genetic basis of common and rare inherited diseases
• 2. Critically evaluate current approaches used to identify new genetic causes for common and rare inherited diseases

ILO: Discipline-specific skills

On successfully completing the module you will be able to...

• 3. Combine information gained from genome sequencing with patient information / medical records to determine the genetic diagnosis in individual patients with reference to international variant interpretation guidelines
• 4. Use information from large population cohorts to assess gene-disease relationships and penetrance of variants

ILO: Personal and key skills

On successfully completing the module you will be able to...

• 5. Critically evaluate the use of genetic information in the clinical management of patients in the NHS including use of whole genome sequencing and genetic risk scores

Syllabus plan

Whilst the module's precise content may vary from year to year, an example of an overall structure is as follows:

• Landscape of common and rare inherited diseases
  • Definition
  • Aetiology
  • Prevalence
  • Age of onset
• Approaches and techniques used to identify the genetic causes of common and rare inherited diseases (e.g. candidate gene, genome-wide association studies, exome / whole genome sequencing, use of population data sets) and their limitations
• Use of panel tests, exome/genome sequencing and other methods for genetic diagnosis in the clinical setting
• Variant interpretation including awareness of international classification guidelines and standardised variant nomenclature
• Principles and practice of medical genetics; risk stratification and management of patients and their families, including cascade testing and clinical surveillance
• An introduction to polygenic risk scores and their potential for use in research and diagnostics
• Precision medicine - impact of genomic data on patient treatment and management
• Analytical challenges in genomics as applied to inherited diseases including:
  • pathogenicity and initiatives to curate gene-disease relationships
  • use of large population datasets
  • data access and patient confidentiality

Learning activities and teaching methods (given in hours of study time)

Details of learning activities and teaching methods

Formative assessment

Summative assessment (% of credit)

Details of summative assessment

Details of re-assessment (where required by referral or deferral)

Re-assessment notes

Please refer to the TQA section on Referral/Deferral: http://as.exeter.ac.uk/academic-policy-standards/tqa-manual/aph/consequenceoffailure/    

Indicative learning resources - Basic reading

Strachan and Read (2019). Human Molecular Genetics, 5th edition. CRC Press

Claussnitzer, M., Cho, J.H., Collins, R. et al. A brief history of human disease genetics. Nature 577, 179–189 (2020). https://doi.org/10.1038/s41586-019-1879-7

Indicative learning resources - Web based and electronic resources

https://omim.org/

Key words search

Inherited diseases, genetics, genomic