69510 Diagnostic Cytogenetics
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Subject handbook information prior to 2025 is available in the Archives.
Credit points: 2 cp
Result type: Grade and marks
There are course requisites for this subject. See access conditions.
Anti-requisite(s): 60004 Diagnostic Cytogenetics
Description
Diagnostic Cytogenetics is an introduction to modern laboratory practices commonly used in hospital and private pathology laboratories in the investigation of diseases with a suspected genetic anomaly. Students are introduced to the various techniques of karyotyping, FISH analysis, multiple ligation probe amplification, microarray, Next Genome Sequencing (NGS) and Whole Genome Sequencing (WGS) alongside techniques to interpret and report the results of the tests.
The use of case studies provides a way to synthesise knowledge about common genetic diseases, clinical features, screening, and diagnostic tests; and expected laboratory findings associated with those diseases in a pathology setting.
Principles of biomedical ethics are introduced in the context of the provision of genetic services, particularly the role of prenatal screening, whole genome sequencing as well as the use of genetic councillors.
Subject learning objectives (SLOs)
Upon successful completion of this subject students should be able to:
| 1. | Recognise the common genetic abnormalities, their clinical features and their karyotype |
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| 2. | Recognise the relationship of the cytogenetics as part of the larger field of diagnostic pathology, and how karyotyping, pedigree analysis, molecular genetics and other techniques aid in the diagnosis of abnormalities. |
| 3. | Interpret cytogenetic and molecular genetic results in relation to the identification of chromosomal abnormalities |
| 4. | Discuss the role of prenatal screening in the detection of cytogenetic abnormalities, including the use of pedigree analysis and fetal sampling and discuss the ethical implications of these tests. |
Course intended learning outcomes (CILOs)
This subject also contributes specifically to the development of following course intended learning outcomes:
- Critically appraise and apply advanced knowledge and technical skills to discipline specific projects to inform professional practice in science and medical biotechnology. (1.1)
- Assess, argue for, and conduct independent research and solving complex problems by applying a research methodology to address a research need in a relevant professional context. (2.1)
- Develop, prepare, and engage, at times collaboratively, in safe, ethical, organised and transparent work practices that mitigate risk and contribute to solving global health problems in the context of science and medical biotechnology. (3.1)
- Reflectively discover, create, and evaluate processes used to determine the value, integrity, and relevance of multiple sources of information to derive innovative solutions to complex science and medical biotechnology problems. (4.1)
- Present and communicate complex ideas and justifications using appropriate communication approaches from a variety of methods (oral, written, visual) to communicate with discipline experts, scientists, industry, and the general public. (5.1)
Contribution to the development of graduate attributes
1. Disciplinary Knowledge.
This graduate attribute will be imbedded in the modules on canvas. Learners will explore the concepts and applications of Diagnostic Cytogenetics through interative activities and workshops. This knowledge will be assessed at the completion of each module through a quiz and the knowledge of cytogenetic abnormalities and diagnostic tests will be explored via the creation of the Disease Portfolio.
2. Research, Inquiry and Critical Thinking.
Learners will use the modules as well as their own independant research to create a medical brouchure on a cytogenetic abnormality. Learners will also be required to show critical thinking in order to interpret cytogenetic results in order to obtain diagnoses for their patients through case study based learning.
3. Professional, Ethical and Social Responsbility.
This graduate attribute will be explored in the context of pre-natal screening for cytogenetic abormalities. Learners will evaulate the ethical implication of pre-natal test results and the development of new technology in the realm of diagnostic cytogenetics.
4. Reflection, Innovation, Creativity
This graduate attribute will be explored and assessed in the Disease Portfolio assessment.
5. Communication Skills.
Via the Disease Portfolio assessment, learners will demonstrate how they can adapt their communication skills to different audiences by preparing both a medical report for a clinician and an informal brouchure for a patient.
Teaching and learning strategies
This subject will be delivered online through the Canvas learning management system (access will be provided) in five learning modules. The modules will comprise of theory content and its application using case studies. Modules will involve self-directed learning activities with interactive content to reinforce learning objectives, such as online karyotyping and pedigree creation.
Each module will have an industry-led 1.5 hr online collaborative workshop where learners review case studies and work through challenging topics. There will also be one face-to-face (or on-line) tutorial on the more challenging aspect of recording family history using a family pedigree. Interactive discussion boards will be available for prompt feedback between workshops.
Content (topics)
In the first weeks of the subject the focus is on the basic techniques used in cytogenetics such as types of staining and karyotyping, the learners use case studies to use their freshly gained knowledge to test their skills in sorting karyotypes for common numerical chromosomal abnormalities.
The subject then moves to the finer structural abnormalities such as deletions, duplications, inversions and insertions; and how they can result in balanced rearrangements to the individual or unbalanced rearrangements that may cause nearly no outward symptoms to the most serious cases where patients are physically and mentally disabled.
In the second half of the subject the focuses on clinical cytogenetics, moving away from using the karyotype alone and incorporating the use of molecular cytogenetic techniques such as fluorescence in situ hybridisation (FISH) analysis, multiplex ligation probe amplification (MLPA), microarrays and sequencing. In a clinical setting this allows for the identification of genetic changes at the gene level and lower, down to single nucleotide polymorphisms. These technologies now have many applications particularly in haematology and oncology, as well as antenatal testing.
Assessment
Assessment task 1: Module Quizzes
| Intent: | This assessment task contributes to the development of the following graduate attributes: 1. Disciplinary Knowledge 2. Research, inquiry and critical thinking 3. Professional, ethical and social responsibility |
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| Objective(s): | This assessment task addresses subject learning objective(s): 1, 2, 3 and 4 This assessment task contributes to the development of course intended learning outcome(s): 1.1, 2.1 and 3.1 |
| Type: | Quiz/test |
| Groupwork: | Individual |
| Weight: | 40% |
| Criteria: | Marks are distributed according to accuracy of answers provided. |
Assessment task 2: Disease Portfolio
| Intent: | This assessment task contributes to the development of the following graduate attributes: 1. Disciplinary Knowledge 2. Research, inquiry and critical thinking 4. Reflection, Innovation, Creativity 5. Communication |
|---|---|
| Objective(s): | This assessment task addresses subject learning objective(s): 1 and 2 This assessment task contributes to the development of course intended learning outcome(s): 1.1, 2.1, 4.1 and 5.1 |
| Type: | Case study |
| Groupwork: | Individual |
| Weight: | 60% |
| Criteria: | A medical report and brochure will be completed based on some case studies. The medical report will be handed in as two draft sections, which be combined after addressing feedback into a Combined Medical Report, marked according to accuracy and pitch. Learners are provided with a proforma and rubrics. The brochure will be marked according to accuracy, pitch and visual appeal and will be marked against the provided rubrics. |
Minimum requirements
An overall mark of 50% (Pass) or above.