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GNA5200 · Clinical applications of genomics

Official Handbook

2026 Handbook12 credit pointsLevel 5School of Biological Sciences

Last checked: 23 Aug 2026 UTC

Overview

This unit will enable you to investigate application of genomic analysis in clinical cases. A range of interactive learning modules involving case-based scenarios will encourage you to problem solve and apply your learning to authentic clinical cases. Discussions with peers and experts will provide you with deep learning and networking opportunities. You will acquire the knowledge and skills to evaluate a range of genetic tests for specific clinical scenarios and appreciate the importance of collaboration and information sharing with clinical staff. This unit is designed to equip you with practical, real world skills including variant curation skills which you will use to produce clinical genomics reports. You will investigate the potential for genomic testing to inform diagnoses and clinical management for patients and their families, while developing an appreciation of the importance of informed consent and counselling in genomic testing and the ethical, legal and psychosocial issues surrounding genomics in medicine.

Offerings

CampusTeaching periodMode
ClaytonFirst semesterTeaching activities are on-campus (ON-CAMPUS)

Assessment

The Handbook does not list a final examination among the assessment items. That is not a guarantee there is none.

#AssessmentTypeWeightHurdle
1Clinical case analysisWritten25%
2Clinical case reportWritten30%
3PresentationPresentation45%

Assessment details may change. Please refer to the assessment information in Moodle closer to the start of the teaching period.

Requisites

The Handbook lists no prerequisite, corequisite or prohibition for this unit.

Learning outcomes

  1. Evaluate and identify appropriate genetic tests, and their limitations, for use in clinical cases;
  2. Demonstrate the ability to communicate appropriately within multidisciplinary teams in the provision of genomic services;
  3. Describe the importance of relevant clinical information and how it is applied in genomic analysis;
  4. Apply the principles of variant curation to genomic variants;
  5. Evaluate how variant classification enhances clinical care;
  6. Discuss ethical and legal issues and psychosocial implications of genome analysis and explain the necessity for informed consent.

Workload

Weekly, an average of: • 3 hours of lectures, teacher directed activities (including cases), and online material • 5 hours of interactive learning through tutorials and workshops and • 16 hours of self-directed study per week

ActivityDuration
Workshops24 hours
Tutorials36 hours

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