COLLEGE OF MEDICINE AND HEALTH
Medicine, Nursing and Allied Health Professions

Module

Genomics of Common and Rare Inherited Diseases

Module titleGenomics of Common and Rare Inherited Diseases
Module codeHPDM037
Academic year2021/2
Credits15
Module staff

Professor Andrew Crosby (Convenor)

Duration: Term123
Duration: Weeks

0

6

0

Number students taking module (anticipated)

20

Description - summary of the module content

Module description

In this module you will initially explore the clinical presentation, diagnosis, management and treatment of a range of common and rare inherited diseases. The principles and practise 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. Building on knowledge gained in Module 2, students will further 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 and its data infrastructures and through practical examples highlight which how 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 clinical presentation and manifestations 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

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
o Definition
o Prevalence
o Age of onset
o Number of rare diseases with identified associated genes
o Number of common diseases with an associated genetic cause
• Clinical presentation and course of a range of rare inherited and common diseases
• Principles and practise 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, network biology)
• Basic statistics to aid interpretation of Genome Wide Associated Studies (GWAS) and analysis of populations
• The NHS Genomic Medicine Service and National Genomic Research Library 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:
o the potential of electronic health records to enrich patient data
o importance of phenotyping and use of databases such as ClinVar, and an understanding of the Human Phenotype Ontology
o use of large population datasets
o sharing information e.g. Human Variome Project
• Clinical use of genomic data
o awareness of standardised nomenclature used when reporting the results
o diagnostic yield
o multidisciplinary care
o data storage
o patient confidentiality

Learning and teaching

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

Scheduled Learning and Teaching ActivitiesGuided independent studyPlacement / study abroad
01500

Details of learning activities and teaching methods

CategoryHours of study timeDescription
Guided independent study10Online quizzes and feedback
Guided independent study15Tutor guided online workshops and discussion forum
Guided independent study15Preparation for OSGE (Objective Structured Genomic Examination)
Guided independent study15Writing case based assignment
Guided independent study95Online resources and independent guided literature research.

Assessment

Formative assessment

Form of assessmentSize of the assessment (eg length / duration)ILOs assessedFeedback method
Online quizzesWeekly1-7Written
Participation in online workshops and discussion forumWeekly1-7Written

Summative assessment (% of credit)

CourseworkWritten examsPractical exams
50050

Details of summative assessment

Form of assessment% of creditSize of the assessment (eg length / duration)ILOs assessedFeedback method
OSGE (Objective Structured Genomic Examination)502 hours1-7Written
Case based assignment501500 words1-7Written
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0
0
0

Re-assessment

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

Original form of assessmentForm of re-assessmentILOs re-assessedTimescale for re-assessment
OSGE (Objective Structured Genomic Examination) (50%)OSGE (Objective Structured Genomic Examination) (2 hours)1-7Typically within six weeks of the result
Case based assignment (50%)Case based assignment (1500 words)1-7Typically within six weeks of the result

Re-assessment notes

In the event of you failing a module, you will be given a chance to resubmit the failed components that led to the overall module failure. This will normally be within six weeks of the overall module result being known, except in the case of examinations which may take longer to reschedule. The module result will then be capped at 50.

Resources

Indicative learning resources - Basic reading

  • Read, A. and Donnai, D. (2015). New clinical genetics. Bloxham, Oxfordshire: Scion.

  • Turnpenny, P. and Ellard, S. (2012). Emery's elements of medical genetics. Philadelphia: Elsevier/Churchill Livingstone. (electronic access through University of Exeter library)

  • Strachan, T., Read, A. and Strachan, T. (2011). Human molecular genetics 4. New York: Garland Science.

  • Strachan, T., Goodship, J. and Chinnery, P. (2015). Genetics and genomics in medicine. New York: Garland Science.

 

ELE –http://vle.exeter.ac.uk/course/view.php?id=6141

 

Indicative learning resources - Web based and electronic resources

 GeneReviews®http://www.ncbi.nlm.nih.gov/books/NBK1116/

 

Module has an active ELE page

Key words search

Inherited diseases, clinical presentation, probands, candidate genes

Credit value15
Module ECTS

7.5

Module pre-requisites

None

Module co-requisites

None

NQF level (module)

7

Available as distance learning?

No

Origin date

01/12/2015

Last revision date

30/07/2020