This course is designed for medical scientists who intend to move (or have recently moved) into diagnostic genomic testing for rare germline disorders. It is also relevant to clinicians and researchers involved in this field.
Attendees will gain an appreciation of the principles of variant interpretation relevant to medical scientists specialising in germline genomic testing. They will also have the opportunity to use common variant interpretation tools, software and databases in a learning environment and work through real-world cases with expert guidance.
LEARNING OUTCOMES
- Explain the processes and limitations of variant interpretation in routine clinical care
- Describe how a clinical context is integrated into the variant interpretation process
- Collect evidence from variant databases, in silico tools, and scientific literature to curate variants
- Use evidence to classify variants based on current clinical standards and guidelines
- Describe how the process of variant interpretation is integral to the generation of genomic test reports
INSTRUCTORS INCLUDE
- Bryony Thompson, Senior Genomics Scientist, Royal Melbourne Hospital
- Corrina Cliffe, Supervising Scientist, Genomics at NSW Health Pathology
- Lyndon Gallacher, Genetic Counsellor FHGSA, Victorian Clinical Genetics Services
- Victoria Beshay, Senior Scientist, Victorian Comprehensive Cancer Centre Alliance
COURSE STRUCTURE
The course is comprised of three in-person all-day workshops which are recommended to be taken in sequence but can be stand-alone.
Each workshop will be held on-site in teaching spaces at the Royal Children’s Hospital, according to COVID-safe guidelines.
Each workshop is preceded by a pre-reading period. Registrants will be expected to have reviewed relevant online modules prior to the workshop.
ONLINE PREREADING: Opens Tuesday 2 January 2024, ~25h total estimated read time across three months.
WORKSHOP 1: Foundations of variant interpretation
Date: Wednesday 31 January 2024
- Foundational genetic concepts
- Introduction to clinical bioinformatics
- Introduction to variant interpretation and curation
- Variant prioritisation and filtering
WORKSHOP 2: Variant curation
Date: Thursday 22 February 2024
- Using online curation tools
- Analysing the effect of variants on protein function
- Analysing the scientific literature and co-segregation
- Case study
WORKSHOP 3: Variant classification and genomic test reporting
Date: Tuesday 26 March 2024
- Variant classification
- Genomic test reporting
- Case study
Please note, this is an expression of interest only. You will be advised by email if your registration is confirmed.
If you have any further queries, please contact the Melbourne Genomics Workforce team at education@melbournegenomics.org.au.
