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Clinical Genetics (GENE90002)
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 requirements of the Human Genetics Society of Australasia Board of Censors for Genetic Counselling, which governs the certification of genetic counsellors in Australia. Clinical and laboratory concepts relating to genetic disorders 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, 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:
- Dysmorphology and approaches to syndrome diagnosis
- Reproductive genetics and technologies, including preimplantation genetic diagnosis, prenatal screening and testing options, ultrasounds and prenatal procedures, together with a consideration of the options available when a fetal abnormality is detected
- Inborn errors of metabolism and their clinical manifestations
- Common genetic conditions: clinical features, modes of inheritance and genetics
- Cancer genetics, including the role of genetics in the cause and/or predisposition of individuals to cancer
- Neurogenetics, including the role of genetics in the cause and/or predisposition of individuals to various neurological conditions
- Genetic causes of intellectual disability
- Genetic conditions associated with various body organs/systems, for example skeletal, skin, eye, blood, immune, kidney, gastrointestinal tract, oral and craniofacial, endocrine and hormonal, respiratory, ear, and cardiovascular system
- Treatment of genetic disease
- Laboratory approaches to predictive, diagnostic and carrier genetic testing
- Working with other professionals and identifying community resources
- Ethical and legal systems in relation to the practice of clinical genetics, for example issues relating to privacy and confidentiality, professional guidelines and codes of conduct.
Generic skills
On completing this subject students should be
able to:
- Elicit and document a family history and pedigree
- Understand clinical genetic risk assessments
- Be able to convey genetic information and discuss risk
- Have an appreciation of molecular, cytogenetic and biochemical laboratory testing utilised in clinical genetics
- Have an appreciation for the approaches to treatment for specific genetic disordersUnderstand the role of prenatal screening and testing in pregnancy management and care and the options available when fetal abnormality is detected
- Understand the role of genetics as the underlying cause of various disorders of the human body
- Understand the role of genetics in cancer
- Have an appreciation for the role of the genetic counsellor in the context of the multidisciplinary approach to clinical genetic health care
- Understand the principles of the legal and professional duties and responsibilities of genetic counsellors as health professionals and members of a health care team
- Have an appreciation for the approaches to treatment for specific genetic disorders
Last updated: 3 November 2022