LQN102 Diagnostic Genetics
To view more information for this unit, select Unit Outline from the list below. Please note the teaching period for which the Unit Outline is relevant.
| Unit code: | LQN102 |
|---|---|
| Equivalent(s): | LQZ102 |
| Credit points: | 12 |
| Timetable | Details in HiQ, if available |
| Availabilities |
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| Domestic tuition unit fee | $3,468 |
| International unit fee | $4,764 |
Unit Outline: Semester 2 2024, Online
| Unit code: | LQN102 |
|---|---|
| Credit points: | 12 |
| Equivalent: | LQZ102 |
| Coordinator: | Fiona Rae | f.rae@qut.edu.au |
Overview
Genomic scientists need to understand the molecular and biochemical methodologies used to assess genetic disorders, depending on the pathogenesis of the condition. Scientists need to be knowledgeable about how to interpret results in order to communicate them to colleagues and referring physicians. Clinicians requesting and/or interpreting genetic test results for their patients will need to be familiar with these concepts as well.
Learning Outcomes
On successful completion of this unit you will be able to:
- Describe the main diagnostic genomic techniques.
- Evaluate laboratory molecular techniques and understand situations in which each is most appropriately applied.
- Apply genomic test results back to the resultant clinical and therapeutic consequences.
- Generate reports which interpret genomic data in the context of clinical presentations.
Content
- Genomic testing in clinical practice and the various categories of genomic testing, using examples of specific genetic disorders
- Genomic variant detection strategies including tools, analysis and validation of laboratory data, as well as post-analytical interpretation of genomic data
- Use of HGVS nomenclature and ISCN to describe genomic variants.
- The laboratory extension of the clinical diagnostic process, including how it relates to different genetic diseases and specialist clinics such as:
- paediatric genetics
- adult genetics
- obstetrics, fetal medicine and fertility
- neurogenetics
- cardiac genetics
- cancer genetics
- metabolic genetics
- The role of epigenetic testing in clinical practice
- Pharmacogenomics
- Funding of diagnostic genomic testing in Australasia
- Therapeutic interventions and lifestyle options available consequent to genetic test results in diseases such as inborn errors of metabolism, familial cancers, and cardiac disease
Learning Approaches
This unit is designed to introduce you to the core concepts of diagnostic genetics. The online delivery is through Canvas. The unit is developed around the principles of adult learning, theory and practice and open learning guidelines. This predominantly asynchronous learning environment allows you to go through lectures, materials and exercises at your own pace.
The Canvas site will provide you with resources including pre-recorded lectures, research papers, media articles and videos. You will also be able to access online meetings, interactive exercises and online message boards. There will be at least one webinar or video-conferencing in which a concept is explained and students will be expected to solve a problem or discuss approaches to a case during the virtual class.
Canvas will facilitate your ongoing conversations with other students and with academic staff. Guidance will be provided, through regular communication via the Canvas site, to help with appropriate self-paced study during the semester. You will be expected to post questions pertaining to the unit on message boards.
You will be encouraged to read widely and to think critically about the nature and scope of how diagnostic genetics relates to the field of diagnostic genomics.
Feedback on Learning and Assessment
The online webinars and discussion boards are the key places you can ask for and receive feedback on your understanding of unit materials. Feedback on assessment 1 and assessment 2 will be given regarding your analytical skills, ability to identify resources, reasoning and ability to interpret and summarise your findings. Assessment 3 feedback will be by way of a mark which reflects your theoretical knowledge. Each assessment item will include individual feedback on your progress as stated above and feedback will be offered to the group through the Announcements page on the Backboard site.
Assessment
Overview
There are three summative assessment items in LQN102. All assessments are based on key readings from the unit material, but you will be expected to undertake additional readings. Assessment 1 is a research paper based on a single condition but which can be either chromosomal or monogenetic in aetiology. The report will provide the opportunity to critically evaluate the literature, describe the clinical and molecular aspects of the disease, and generate a testing strategy based on the evidence. Assessment 2 is a literature review which provides an opportunity to apply your knowledge to the diagnosis of a genomic disease with more than one possible genetic cause by evaluating the clinical features of a disease and its molecular causes; critically appraising the literature; interpreting your findings in the context of previously reported cases; and presenting your evaluation in a scientific format. Assessment 3 is a theory examination consisting of multiple-choice, short answer and long answer questions covering the semester's content, administered online.
Unit Grading Scheme
7- point scale
Assessment Tasks
Assessment: Research Paper
You will be given a case describing a specific genetic condition which may be caused by either a chromosomal or monogenetic lesion. You will critically evaluate the literature; describe the clinical, molecular, and diagnostic aspects of the case; and discuss their significance in the context of the literature.
This is an assignment for the purposes of an extension.
Assessment: Literature Review
You will be given a case of a specific genetic condition that has more than one molecular cause. You will critically evaluate the literature; describe the clinical, molecular, and diagnostic aspects of the case; and discuss their significance in the context of the literature.
This is an assignment for the purposes of an extension.
Assessment: Examination
This online assessment piece will consist of multiple-choice, short answer and long answer questions. It is aimed to ensure that you have a coherent knowledge of the essential elements of diagnostic genetics which is required on a daily basis in both laboratory and clinical settings.
Academic Integrity
Students are expected to engage in learning and assessment at QUT with honesty, transparency and fairness. Maintaining academic integrity means upholding these principles and demonstrating valuable professional capabilities based on ethical foundations.
Failure to maintain academic integrity can take many forms. It includes cheating in examinations, plagiarism, self-plagiarism, collusion, and submitting an assessment item completed by another person (e.g. contract cheating). It can also include providing your assessment to another entity, such as to a person or website.
You are encouraged to make use of QUT’s learning support services, resources and tools to assure the academic integrity of your assessment. This includes the use of text matching software that may be available to assist with self-assessing your academic integrity as part of the assessment submission process.
Further details of QUT’s approach to academic integrity are outlined in the Academic integrity policy and the Student Code of Conduct. Breaching QUT’s Academic integrity policy is regarded as student misconduct and can lead to the imposition of penalties ranging from a grade reduction to exclusion from QUT.
Resources
Risk Assessment Statement
There are no out of the ordinary risks associated with this unit.