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This subject will introduce students to the complexity of the human genome, and tools used by genetic counsellors to access information and inform risk assessment. Students will apply these tools in examining the molecular basis of single-gene and mitochondrial genetic diseases, including diseases caused by chromosomal imbalances and rearrangements, and autosomal dominant, autosomal recessive, sex-linked, and triplet repeat disorders.
This curriculum is based on the genetic knowledge requirements of the Human Genetics Society of Australasia (HGSA) Board of Censors for Genetic Counselling, which governs the certification of genetic counsellors in Australia. The course will be delivered via a combination of on-line content and case-based face-to-face tutorials.
Intended learning outcomes
- Elicit family history and document a pedigree;
- Make use of relevant tools to obtain pertinent information about a genetic condition;
- Explain the relationship between molecular genetic changes and human disease; and
- Integrate patient, family & disease information to assess risk.
On completing this subject students should be able to:
- Understand the principles of inheritance
- Understand chromosomal disorders and the genetic basis of disease
- Understand the normal stages of human embryo development and have an awareness of how this can be disrupted
- Document a family tree
- Understand clinical genetic risk assessments for patients and families
- Convey genetic information and discuss risk in a clinical context
- Have an appreciation for and a basic understanding of the range of molecular and cytogenetic laboratory tests utilised in clinical genetic practice
- Understand the issues relating to population based screening
Last updated: 6 December 2019