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Clinical & Laboratory Diagnostic Genomics

Aug 5, 2024 - Aug 25, 2024
1.5 credits

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Full course description




5 August to 25 August 2024


15 hours
(3-week block)

Delivery Mode

2-day face to face workshop at UNSW Kensington campus & online self-paced learning



(GST inclusive)

15% Discount

Use promo code
CLDG15OFF2 at check out





Course overview

Please register on the waitlist for joining this course in 2025.

We are excited to provide ongoing access to the clinical genomics course after two successful courses in 2023. The focus for the clinical genomics course is to:

  • provide tuition and increase understanding about molecular mechanisms for pathogenicity
  • gain practical understanding of genomic filtering and reporting
  • have expert guidance in the genetic counselling aspects of clinical genomics (click here to enrol in the Genetic Counselling short course).

This short course offers 2-day face to face workshop and online self-paced learning covering contemporary concepts, practical tools, and evidence-based methods in clinical genomic analysis and variant interpretation from a National Association of Testing Authorities (NATA) accredited laboratory genomic facility. The course will enable clinicians requesting genomic testing [a panel, trio or singleton Whole Exome Sequencing (WES), or Whole Genome Sequencing (WGS)] and scientists/clinicians involved in genomic analysis to understand and apply the methodology, bioinformatics and steps involved in genomic analysis and variant curation.

You will gain experience in the genomic consent process, the context in which genomic testing requests are useful, practical genomic analysis and returning complex reports to clinicians and families while addressing genetic counselling implications. The course will deep dive into the clinical genomic analysis process which can incorporate the use of different algorithms (small-scale pathogenic variants, splice and copy number variants), the use of in silico tools and the integration of helpful information from genomic and protein structural databases. It particularly emphasises the importance of a clinical genomic framework in Mendelian disorders, considering disease inheritance, structure and function and principles of genomic filtering to achieve a diagnosis.  

Over a period of 3 weeks, you will access state-of-the-art online sessions on Mendelian disorders, genomic testing and assessing variant pathogenicity. This will include two days of practical face-to-face genomic analysis workshops with multiple cases to solve guided by the team from NSW Health Pathology Randwick Genomics. Online self-paced learning is provided for coaching and reflection in genomic analysis and application in scientific and medical contexts. By the end of this course, you will be equipped with the tools, knowledge and insight required for clinical genomic diagnostic processes and an understanding of the management of the results and their implications for families as well as an appreciation of research-based genomic analysis.   

This credential short course is based on real-world cases, and you will have an opportunity to analyse human genomic and variant data in a clinical setting.

Please note that attendance at the 2-day face to face workshop is compulsory, and there will not be any live streaming available.

This short course complements and runs consecutively with the Genetic Counselling short course. Please click here to register for the Genetic Counselling short course. 



Professor Tony Roscioli | UNSW Medicine & Health

Professor Tony Roscioli is a clinical geneticist at Sydney Children’s Hospital, and a Group Leader in Neurogenomics at NeuRA/Prince of Wales Clinical School, University of New South Wales. His clinical training has been in the fields of paediatric internal medicine and human genetics with an emphasis on dysmorphology. The basis of his research interests in gene identification has stemmed from his clinical training in the field of developmental anomalies/congenital malformations.

Professor Roscioli was awarded an NHMRC Overseas Biomedical Postdoctoral Fellowship, the overseas component of which was conducted in the leading European Department of Human Genetics at Radboud University Nijmegen Medical Centre, The Netherlands. This fellowship provided valuable training in genomic medicine with a focus on disorders of neuronal migration, intellectual disability (ID), and craniosynostosis/orofacial clefting.

He has worked in translational genomics in Sydney since 2012, being instrumental in guiding two laboratories to clinical accreditation and designing practical genomic consent forms. An important activity has been co-ordinating genomic education for professionals and he has convened 4 successful clinical genomics courses in Sydney and Hong Kong.

More information about Professor Tony Roscioli is here.