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Human Genetics and Genetic Counselling 1 (GENE90001)
Graduate courseworkPoints: 12.5Not available in 2017
Overview
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This subject will not be offered until 2018
The curriculum is based on the genetic knowledge requirements of the Human Genetics Society of Australasia Board of Censors for Genetic Counselling, which governs the certification of genetic counsellors in Australia. Basic biological and genetic concepts will be taught via a combination of didactic and problem based learning (PBL) methods. Various human disorders will be discussed to illustrate basic concepts. PBL will be used to facilitate the sharing of information between students and to support the development of group work - which models the work of a genetic counsellor, who works as part of a multidisciplinary team. Tutors will have experience working in the areas of clinical genetics, laboratory genetics, and genetic education / research.
Intended learning outcomes
This subject is designed to enable students to acquire knowledge in the following areas as well as an appreciation of the application of this knowledge to the practice of clinical genetics:
- Cell biology
- Meiosis, mitosis
- Principles of cytogenetics, including molecular approaches
- Human embryology and the effects of major human teratogens
- Gene structure and regulation
- Transcription, translation
- Protein structure and function
- Mutations and polymorphisms
- Developments in gene technology
- Principles of molecular genetic testing
- Patterns of inheritance, e.g. mendelian, mitochondrial, polygenic, multifactorial
- Pedigree drawing
- Pedigree analysis and risk calculation
- Biostatistics including population genetics and consanguinity, linkage analysis, Bayes theorem analysis, assumptions in risk assessments
- Principles of population screening. Examples to include newborn screening and 1st and 2nd trimester maternal serum screening.
Generic skills
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: 3 November 2022