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 |
|---|---|
| Credit points: | 12 |
| Timetable | Details in HiQ, if available |
| Availabilities |
|
| Domestic tuition unit fee | $3,744 |
| International unit fee | $5,148 |
Unit Outline: Semester 2 2025, Online
| Unit code: | LQN102 |
|---|---|
| Credit points: | 12 |
Overview
This foundational genomics unit examines the different types of molecular lesions encountered in human diagnostics and provides insight into how to select the most appropriate diagnostic platform to detect them. You will learn 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 become familiar with these concepts to improve clinical practice.
Students are required to verify their identification in this unit by displaying their student identification card during the assessment 1 oral presentation.
Authentication of learning and verification of identity may be assessed by an online viva with the unit coordinator.
Learning Outcomes
On successful completion of this unit you will be able to:
- Examine appropriate diagnostic techniques as applied to specific clinical scenarios.
- Evaluate and interpret molecular test results and identify solutions to solve complex genomics problems.
- Drawing on industry-relevant digital practices and application of technologies, communicate genomic test results.
- Generate reports which interpret genomic data in the context of clinical presentations, observing diverse perspectives, cultural safety and sensitivity.
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 application of laboratory data to clinical diagnosis, 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
- Therapeutic interventions and lifestyle options available in diseases such as inborn errors of metabolism, familial cancers, and cardiac disease
Learning Approaches
This introductory unit is designed to introduce you to the core concepts of diagnostic genetics. Your introductory experience involves working in an online learning environment, hosted on Canvas. The unit is developed around the principles of adult learning, theory and practice and open learning approaches whereby you will undertake self-directed learning as well as learning in collaboration with other students. This predominantly asynchronous learning environment allows you to go through lectures, learning materials, and exercises at your own pace.
As an introductory unit, it provides timely guidance and assistance. Specifically, the Canvas site will provide you with learning 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. 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 Canvas website.
Assessment
Overview
There are two summative assessment items in LQN102. These assessments are based on weekly content and key readings from the unit material, but you will be expected to undertake additional readings. Assessment 1 is an individual ten minute pre-recorded narrated presentation outlining the approach to diagnostic testing for a complex genetic disease. Assessment 2 is a portfolio 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.
Unit Grading Scheme
7- point scale
Assessment Tasks
Assessment: Presentation
This short pre-recorded presentation will be submitted in a digital format. It will assess your understanding of a question linked to the diagnostic approach to molecular testing for a complex genetic condition with more than one possible cause, as well as assessing scientific communication skills. You will be required to submit a written transcript of your presentation. As part of Verified Identity Assessment (VIA), you will be required to visually identify and authenticate the presentation and respond to questions relating to the presentation.
This assignment is eligible for the 48-hour late submission period and assignment extensions.
Assessment: Portfolio
Assessment 2 is a portfolio based on problem solving tasks and case studies and includes content covered throughout the semester. Engaging with the online modules during the semester will assist you in completing the portfolio. You will be presented with a case study or problem-solving task that is relevant to the weekly learning. You will complete the task to include in your portfolio submission. Completing the portfolio will ensure that you acquire coherent knowledge and understanding of the molecular tests which are used to identify the cause of complex genetic disease.
This assignment is eligible for the 48-hour late submission period and assignment extensions.
Academic Integrity
Academic integrity is a commitment to undertaking academic work and assessment in a manner that is ethical, fair, honest, respectful and accountable.
The Academic Integrity Policy sets out the range of conduct that can be a failure to maintain the standards of academic integrity. This includes, cheating in exams, plagiarism, self-plagiarism, collusion and contract cheating. It also includes providing fraudulent or altered documentation in support of an academic concession application, for example an assignment extension or a deferred exam.
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.
Breaching QUT’s Academic Integrity Policy or engaging in conduct that may defeat or compromise the purpose of assessment can lead to a finding of student misconduct (Code of Conduct – Student) and result in the imposition of penalties under the Management of Student Misconduct Policy, 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.
Course Learning Outcomes
This unit is designed to support your development of the following course/study area learning outcomes.LS60 Graduate Certificate in Diagnostic Genomics
- Apply scientific knowledge and skills, focused on current genomic trends in practice and research, utilising digital capabilities.
Relates to: ULO1, ULO4 - Critically evaluate scientific findings and locate solutions to solve complex genomics problems, employing high order cognitive skills, clinical reasoning, and reflective practice.
Relates to: ULO1, ULO2, ULO3, ULO4 - Develop and apply professional oral and written communication skills that inform effective collaboration and digital interactions with colleagues and other stakeholders across the medical and scientific contexts.
Relates to: ULO4 - Practise within a framework of personal accountability, collegiality and ethical judgment, while valuing cultural safety and sensitivity in professional practice, clinical decision-making and research.
Relates to: ULO2, ULO3, ULO4
LS72 Graduate Diploma in Diagnostic Genomics
- Apply scientific knowledge and skills, focused on current genomic trends in practice and research, utilising digital capabilities.
Relates to: ULO1, ULO4 - Critically evaluate scientific findings and locate solutions to solve complex genomics problems, employing high order cognitive skills, clinical reasoning, and reflective practice.
Relates to: ULO1, ULO2, ULO3, ULO4 - Develop and apply professional oral and written communication skills that inform effective collaboration and digital interactions with colleagues and other stakeholders across the medical and scientific contexts.
Relates to: ULO4 - Practise within a framework of personal accountability, collegiality and ethical judgment, while valuing cultural safety and sensitivity in professional practice, clinical decision-making and research.
Relates to: ULO2, ULO3, ULO4
LS81 Master of Diagnostic Genomics
- Apply scientific knowledge and skills, focused on current genomic trends in practice and research, utilising digital capabilities.
Relates to: ULO1, ULO4 - Critically evaluate scientific findings and locate solutions to solve complex genomics problems, employing high order cognitive skills, clinical reasoning, and reflective practice.
Relates to: ULO1, ULO2, ULO3, ULO4, Presentation - Develop and apply professional oral and written communication skills that inform effective collaboration and digital interactions with colleagues and other stakeholders across the medical and scientific contexts.
Relates to: ULO4, Presentation, Portfolio - Practise within a framework of personal accountability, collegiality and ethical judgement, drawing upon Indigenous perspectives, cultural safety and sensitivity in professional practice, clinical decision-making and research.
Relates to: ULO2, ULO3, ULO4, Portfolio