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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.In this module you will explore how genomics impacts on and informs the 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.

This module will also describe the NHS Genomic Medicine Service and National Genomic Research Library (100k Genomes Project) and its data infrastructures and through practical examples highlight which patients with unmet diagnostic need will benefit from exome or whole genome sequencing.

Module aims - intentions of the module

The aim of this module is to provide an introduction to the ways in which traditional and current approaches impact on and inform the diagnosis, management and treatment of a range of common and rare inherited diseases. The module will also consider the patient and family perspective with respect to the role and impact of genomics, and provide an overview of the approaches used to identify the underlying genes involved.

Intended Learning Outcomes (ILOs)

ILO: Module-specific skills

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

• 1. Examine the range of common and rare inherited diseases
• 2. Explain the genetic basis of common and rare inherited diseases
• 3. Critically evaluate traditional and current approaches used to identify new genes for common and rare inherited diseases

ILO: Discipline-specific skills

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

• 4. Synthesise information gained from exome / whole genome analysis with patient information / medical records to determine diagnosis, penetrance or prognosis for a number of examples of common and rare inherited diseases using the available evidence base
• 5. Critically evaluate the use of whole genome sequencing in the clinical management of patients in the NHS, including identifying cases suitable for whole genome sequencing

ILO: Personal and key skills

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

• 6. Critically evaluate the implications of the clinical use of genomic data in patient care
• 7. Correlate genetic markers to phenotype and interpret output of association studies both for dichotomous and quantitative traits

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
  • Prevalence
  • Age of onset
  • Number of rare diseases with identified associated genes
  • Number of common diseases with an associated genetic cause
  • Principles and practice of medical genetics; risk stratification and management of patients and their families, including cascade testing and clinical surveillance
  • Approaches and techniques used to identify genes responsible for common and rare inherited diseases (e.g. candidate gene, positional mapping, genome-wide association studies, exome / whole genome sequencing, use of population data sets) and their limitations
  • Basic statistics to aid interpretation of Genome Wide Associated Studies (GWAS) and analysis of populations
  • An introduction to polygenic risk scores and their potential for use in research and diagnostics
  • The NHS Genomic Medicine Service and National Genomic Research Library (100k Genomes Project) and their data infrastructures. Selection of tractable cases with unmet diagnostic need suitable for whole genome analysis
  • Analytical challenges in genomics as applied to rare inherited diseases including:
    • pathogenicity and initiatives such as ClinGen
    • use of large population datasets
    • Clinical use of genomic data
      • awareness of standardised nomenclature used when reporting results
      • variant interpretation and use of databases such as ClinVar
      • diagnostic yield
      • data storage

• the potential of electronic health records to enrich patient data

• sharing information

• 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

• Read, A. and Donnai, D. (2021). New Clinical Genetics, fourth edition: a guide to genomic medicine. Bloxham, Oxfordshire: Scion.
• Strachan and Lucassen (2022). Genetics and genomics in medicine. CRC Press.

ELE – https://vle.exeter.ac.uk/course/view.php?id=10166

Indicative learning resources - Web based and electronic resources

https://omim.org/

Key words search

Inherited diseases, clinical presentation, probands.