MSc Genomic Medicine / Course details

Year of entry: 2024

Course unit details:
Genomics of Common and Rare Inherited Diseases

Course unit fact file
Unit code BIOL67582
Credit rating 15
Unit level FHEQ level 7 – master's degree or fourth year of an integrated master's degree
Teaching period(s) Semester 2
Available as a free choice unit? Yes


This unit aims to develop students' knowledge of common and rare genetic disease. A comprehensive approach is taken to diagnosis, genomic testing, prognosis, management, inheritance and impact across a range of genetic conditions. Scope includes common chromosome, single gene and heterogeneous conditions including, inherited cancer, paediatric and adult-onset disorders.

It also considers the perspective of patients and their families on the role and impact of genomic medicine. Examples of paediatric and adult conditions will be used to illustrate the principles of genomic diagnosis, testing and counselling. Face to face sessions will be taught in one block over three days, to include lectures, problem  based learning, and interactive workshops. This will be augmented by online lectures.             


The underlying genomic basis of a substantial proportion of presumed rare monogenic disorders remains unknown. Whilstommon conditions such as intellectual disability, diabetes, schizophrenia and autism are thought to arise from a complex interplay of genetic and environmental factors but deeper understanding of the genetic and mechanistic basis of these diseases is necessary for clinical translation. The aim of this module is to provide a brief introduction to the clinical presentation and manifestations of rare inherited and common diseases and consider the patient and family perspective with respect to the role and impact of genomics. The module will also focus on the genetic contribution to the aetiology of these conditions and strategies currently used to identify gene alterations in the clinical situation. Students will learn how to identify the most frequently encountered common and rare genetic disease phenotypes and how to select cases with unmet diagnostic need that will benefit from genomic testing.

Teaching and learning methods

Learning will focus on a case-based approach to ensure relevance to clinical practice. A  range of formats will be used in both face-to-face and e-learning: 

1. Lectures, problem-based learning, case studies and group work.

2. e-learning lectures, problem-based learning, case studies and background reading to  enhance face-to-face sessions 

Knowledge and understanding

Examine the landscape of common and rare inherited diseases. Demonstrate knowledge of common and rare inherited diseases, including multi-factorial disorders, paediatric genetics, cancer genetics and adult-onset conditions.

Explain the genetic architecture of common and rare inherited diseases. 
Understand the way genomic testing and other investigations are used in diagnosis and  the importance of phenotyping (e.g. dysmorphic diagnosis, clinical biochemistry, imaging  techniques), in the investigation of candidate pathogenic variants.

Understand the use and application of genomic testing and the impact of genetic diagnosis on the patient and family.

Be aware of the skill required to identify phenotype, select cases and relevant family information for genomic testing including whole exome/whole genome sequencing. 
Appreciate the important of genetic diagnosis in the management and family impact of genetic disease.

Intellectual skills

Interpret clinical, family history and genomic test results to make appropriate diagnosis and accurate genetic risk assessments, in the context of individual clinical situations. Critically analyse and evaluate the relevant scientific literature and apply to clinical situations. 

Consider how to interpret information gained from genomic testing with patient information to determine diagnosis, penetrance or prognosis for a number of examples of common and rare inherited conditions. 


Practical skills

Use databases and other resources to research up-to-date genetic and clinical information across a range of common and rare genetic diseases. 

Think about how to convey clinical and genetic information appropriate to individual clinical needs and level of understanding. 

Transferable skills and personal qualities

Appreciate the ethical and psychosocial issues to be considered during the process of genetic diagnosis. 

Recognise professional boundaries including when to refer on in most complex situations.

Assessment methods

Method Weight
Written exam 50%
Written assignment (inc essay) 30%
Oral assessment/presentation 20%

Feedback methods

Formative and Summative feedback given.

Recommended reading

Includes but is not limited to:

  1.  Harper  P Practical Genetic Counselling, 7th edition (Edward Arnold Publishers, 2010)
  2. Read AP, Donnai D  ‘New Clinical Genetics. A Guide to Genomic Medicine.’ (4th Ed.) Scion Publishing Ltd, 2021

 Internet addresses for key reference sources:

 OMIM (online version of McKusick's Mendelian Inheritance in Man):

Gene reviews

Orphanet (rare genetic diseases)

Study hours

Independent study hours
Independent study 150

Teaching staff

Staff member Role
Helen Stuart Unit coordinator

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