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Genomics in Clinical Practice

Gain knowledge of genomic mechanisms and genetic variations
Stay at the forefront of clinical practice and learn about the rapid advances in genomics that are impacting diagnostics, screening, counselling and therapeutics in clinical care.

The Genomics in Clinical Practice short course provides a framework for contemporary knowledge of genetic disorders that are relevant to many areas of medicine including neurology, cardiology, oncology, nephrology, ophthalmology, paediatrics and obstetrics.  Gain knowledge of genomic mechanisms and genetic variations which lead to human disease and through a case-based approach, develop skills in the interpretation of clinical, family history and genomic test results, and an understanding of the genetic counselling and ethical issues in genomic medicine.

The RACP Clinical Genetics Advanced Training Committee has approved this unit of study to meet the requirements for coursework in genomics for advanced trainees in Clinical Genetics.

On successful completion of this short course you will be able to:

  • Understand the biology of DNA, RNA, protein, chromosomes and cellular division that underlies modern genomic medicine.
  • Describe the different categories of genetic variation and interpret genetic test reports with regard to classification of variant pathogenicity.
  • Interpret family pedigrees, perform recurrence risk calculations and appreciate the complexity of genetic counselling in the setting of pregnancy and family planning.
  • Have an approach to the diagnosis, management and specific genetic counselling aspects of common genetic conditions including chromosomal aneuploidies, contiguous gene syndromes and single gene disorders, and understand advances in treatments available for specific conditions.
  • Understand concepts important to the genetic metabolic disorders, including diseases characterised by acute metabolite toxicity and those where chronic organelle dysfunction causes disease manifestations.
  • Understand genetic susceptibility to cancer, risk assessment, management and counselling of families with inheritable forms of cancer, particularly breast and ovarian cancer, and bowel cancer


  • Dr Ingrid Sinnerbrink

Terms and conditions

Key information
Date and time Semester 1, 2022 - 21 February – 29 May 2022
Location Online
Course fees Email for fee information.
Registration deadline 14 February 2022
Admission requirements Admission requires a medical degree from the University of Sydney or an equivalent qualification.
More information Email for more information.