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Clinical & Laboratory Diagnostic Genomics is a Course

Clinical & Laboratory Diagnostic Genomics

May 1, 2023 - May 28, 2023
3 credits

$600 Enrol

Full course description






1 - 28 May 2023


30 hours
(4 weeks block)

Delivery Mode

Hybrid comprising online self-paced &
face to face workshop at UNSW Kensington campus


(GST inclusive)

15% Discount

Use promo code






This short course offers practical tools, contemporary concepts, and evidence-based research in clinical genomic analysis and variant interpretation in a National Association of Testing Authorities (NATA) accredited laboratory setting.

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.

By joining this course, you will gain experience in the process of sample request, genomic analysis and returning complex reports to clinicians and families who address management and genetic counselling implications. You 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 integration of helpful information from genomic and protein structural databases.

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.

What are the course learning outcomes?

By the end of this course, you will be able to:

  • Identify and describe the genomic variants and interpret their pathogenicity
  • Understand international criteria for variant interpretation
  • Describe the different types of genomic files
  • Apply genomic analysis in Mendelian disorders and clinical diagnostic reporting
  • Discuss the implications for families undertaking genomic testing in different settings (for example acute care, prenatal genomic testing, incidental findings, VUS)
  • Gain understanding of how to identify a novel disease gene
  • Analyse the principles of genetic counselling in relation to genomic testing
  • Describe the issues that need to be addressed when discussing genomic testing
  • Understand the potential implications for families arising from genomic testing that need to be addressed in the context of genetic counselling

What core topics are offered?

For lifelong learning, the following topics are offered in this short course to develop and increase your knowledge, understanding and skills in genomic analysis, variant interpretation, clinical reporting, and genetic counselling in a genomic environment:

  • Genome and gene structure
  • Benign and pathogenic variation
  • Analysis and classification of variants (missense, nonsense, frameshift, splicing)
  • Analysis of Copy Number Variation from genomic data
  • Genomic filtering and bioinformatic pipeline analysis
  • Complex genetic counselling issues in a genomic setting

Who is this course suited to?

People working in genomics and interested in gaining knowledge, understanding and tools for applying the clinical genomic diagnostic process will benefit from this course - including, clinicians, scientists, allied health professionals, nurses and health professionals working in a clinical setting, as well as medical specialists and trainees, clinical genetics trainees, scientists, medical and health science students, genetic counsellors and researchers.

What are the course credentials?


This course is worth 3 Faculty Medicine and Health Executive Certificate in Health (FMECH), which provides formal recognition of professional development and reflects 30 hours of learning inclusive of pre-work, course participation and successful completion of a formative assessment. Upon course completion, you will be issued with a verifiable digital badge from the UNSW Medicine & Health indicating the points awarded.

The 30 hours of learning and verifiable credential can be counted towards your continuing professional development (CPD). Please check with your college as the credential provides documentary evidence which may substantiate activities claimed under your college program.


Can I use my credit towards further study?

You can partake in other short courses with FMECH points to achieve a total of 150 hours of study. Once the 150 hours of study is achieved, you can apply for recognition of prior learning for 6 units of credit towards a postgraduate program within UNSW Medicine and Health. It is essential to complete the assessment if you wish to apply to use the points towards credit for a UNSW postgraduate program in the future.


Price is inclusive of 30 hours of learning, digital badging, online credential learning resources, evidence-based research, practical tools and techniques, and course completion assessment.


^15% discount for UNSW Alumni and  UNSW Network, Affiliates, Staff, Students, Adjuncts, and Partners.

Additional discount available for UNSW Medicine & Health Short Course partners! To collect your additional discount, please insert "Partnership Discount" in the email subject and send to the Short Course Team.

Key Presenter

Associate Professor Tony Roscioli
UNSW Medicine & Health

Associate Professor Tony Roscioli is a clinical geneticist at Sydney Children’s Hospital, 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. Associate 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. 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.

More information about Associate Professor Tony Roscioli here 


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Further information

Thank you for considering UNSW Medicine & Health Short Courses. Reach us for further information about this short course. Or drop us a line if you would like to receive future short courses for early bird discounts.

We continuously improve our short courses to reflect the needs of our learners and their employers. If you are interested in connecting with us to explore bespoke programs for your organisation or team, please contact us.