GNA5920 · Advanced case studies in genomics

Overview

Using a work-emulation learning approach, you will take your knowledge and skills in the area of human genome variant curation and apply this to advanced clinical cases. You will undergo deep practice of the genome curation process, while being exposed to novel approaches and clinical perspectives. The multidisciplinary nature of genome curation will be highlighted, with the use of simulated variant curation meetings to appreciate the combined impact of sound genetic knowledge, bioinformatic processes, patient circumstances and clinical specialist expertise in the variant classification process. You will also further appreciate that variant curation is an ongoing process, involving further evidence that may be needed to reclassify a given variant. A work-ready approach will be taken to assessment, where you will prepare a skills portfolio from your studies over the semester, along with being assessed using authentic tasks that relate directly to workplace responsibilities. The ethical considerations when performing genomic testing and communicating genetic results will be a consistent theme through the semester.

Offerings

Assessment

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

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. Demonstrate awareness of the current and future roles of genetic and genomic testing within the clinical and industrial space, highlighting its interdisciplinary nature;
2. Expertly interpret and curate genetic variants from complex clinical cases using established and novel classification frameworks, while incorporating accurate phenotypic information;
3. Strictly adhere to current guidelines in the testing and communication of genetic variants as required for industry accreditation;
4. Clearly and efficiently communicate complex genetic information in a number of modalities;
5. Use bioinformatic tools in human genomic analysis and evaluate their impact on the variant detection and filtering process;
6. Perform genomic analysis and communicate results as per clinical best practice.

Workload

An average of: • 6 hours of directed online study (exercises/lessons/readings); • 6 hours of face to face workshops and • 12 hours of independent study – work on assignments and case studies, independent research per week

Student experience, not official rules. Nothing here changes what the Handbook says.