LQB490 Cytogenetic and Molecular Pathology


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Unit Outline: Semester 2 2024, Gardens Point, Internal

Unit code:LQB490
Credit points:12
Pre-requisite:LQB280
Coordinator:Nicole Chia | n.chia@qut.edu.au
Disclaimer - Offer of some units is subject to viability, and information in these Unit Outlines is subject to change prior to commencement of the teaching period.

Overview

Skills in cytogenetics and molecular biology are now widely used across all of the pathology disciplines. These two specialties represent one of the fastest growing test request areas in diagnostic laboratory medicine, with demand increasing nearly 200% over the last five years. Through alignment of theoretical concepts and practical skills, this lab-based unit expands on the themes introduced in your earlier cellular, molecular, genetic and bioinformatic studies to introduce the knowledge and practical skills used routinely in modern pathology genetic testing. You will apply your learning and skills from this unit in your third year clinical units.

Learning Outcomes

On successful completion of this unit you will be able to:

  1. Demonstrate knowledge of theoretical and practical concepts, and technical skills required for understanding the cytogenetic and molecular basis of disease and the diagnostic approach in clinical laboratories;
  2. Solve complex problems in case-based cytogenetic and molecular pathology contexts;
  3. Apply professional and ethical knowledge appropriate for the cytogenetic and molecular pathology contexts in the workplace and your studies at QUT;
  4. Communicate your knowledge and learning in written and digital formats appropriate for a range of purposes and audiences.

Content

The content of this unit includes:
  • Chromosome structure and nomenclature
  • Chromosome isolation, processing and banding methods
  • Chromosome abnormalities and their clinical consequences
  • Introduction to fluorescent in-situ hybridisation and microarrays
  • Isolation and characterisation of nucleic acids
  • DNA amplification and advanced PCR -based strategies
  • DNA sequencing
  • Introduction to advanced DNA sequencing technologies
  • DNA abnormalities and their clinical consequences
  • Ethics and professional behaviours in genetic testing

Learning Approaches

As this course is vocationally directed, you will have opportunities to apply your knowledge and skills through a practical approach. The unit comprises weekly lectures, which are closely aligned with a series of laboratory classes and computer-based sessions. Laboratory classes are structured as a combination of practical experiments and workshop exercises designed to introduce you to a range of basic and advanced techniques used in clinical and research laboratories. The LQB490 Canvas site is used to provide resource material and regular unit updates.

Feedback on Learning and Assessment

Formal feedback to students is provided through assessed reports and via the Canvas site. Informal feedback is provided weekly in practical classes by participating in, and completing learning activities with your peers and/or teaching staff. You will also receive immediate feedback by completing any formative learning activities available to you on Canvas.

During and at the end of Semester you will have the opportunity to share your experiences and thoughts by providing your feedback on the teaching and content of this unit through online QUT student surveys. Your ideas and suggestions may be used to make changes to the unit where appropriate to improve the learning outcomes for you and future students.

Assessment

Overview

Threshold assessment conditions apply to the grading in this unit. The assessment items that relate to the cytogenetic component and the molecular pathology component of the unit are considered threshold pieces of assessment. A satisfactory achievement (minimum of 50%) in the cytogenetic component (Case Study and cytogenetic pathology questions in the final theory exam) and the molecular pathology component (Molecular Pathology Laboratory Quiz and molecular pathology questions in the final theory exam) of the unit and an overall unit passing mark of at least 50% are required to obtain a passing grade for this unit. If you achieve 45-49% for either the cytogenetic component or the molecular pathology component and your overall unit mark is greater than or equal to 50%, you have the opportunity to complete one additional assessment (designated by the unit coordinator); if you pass this, you will receive an overall grade of 4 for the unit. However if you do not pass this additional assessment you will not be eligible to pass the unit and will be awarded a maximum grade of 3. You are advised to seek feedback from the unit coordinator prior to undertaking the additional threshold assessment.”

Practical Class Attendance and Assessment

Participation in the practical classes is an integral part of your learning experience in LQB490, if you are unable to attend a practical session, you should inform the unit coordinator by email and provide supporting documentation for your absence the following week at the start of practical class, e.g. medical certificate. For approved absences alternate arrangements will be accommodated on up to two occasions. Approved absences in excess of two occasions will need to be discussed with the unit coordinator. In the case of unapproved absence from practicals, no marks will be given for related assessment.

Unit Grading Scheme

7- point scale

Assessment Tasks

Assessment: Case Study

Case study report within a real life context. You will apply and demonstrate cytogenetic knowledge, application and analysis. (Formative and summative).

This is an assignment for the purposes of an extension.

Threshold Assessment:

This assessment item contributes to the cytogenetic component of the unit for threshold assessment.

Weight: 25
Individual/Group: Individual
Due (indicative): See Canvas
Related Unit learning outcomes: 1, 2, 4

Assessment: Examination (Theory)

Cytogenetic and Molecular Pathology theory examination. You will apply and demonstrate cytogenetic and molecular pathology knowledge. Assesses weeks 1-13 (summative).

Threshold Assessment:

This assessment item contributes equally to both the cytogenetic component and the molecular pathology component of the unit for threshold assessment.

Weight: 50
Individual/Group: Individual
Due (indicative): Central exam period
Related Unit learning outcomes: 1, 3, 4

Assessment: Quiz/Test

In completing two, time-limited, online quizzes (through Canvas) you will apply and demonstrate your understanding of cytogenetic and molecular pathology practical skills, their application and analysis of data (summative).

Threshold Assessment:

This assessment item contributes to the molecular pathology component of the unit for threshold assessment.

Weight: 25
Individual/Group: Individual
Due (indicative): See Canvas
Related Unit learning outcomes: 1, 2

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.

Requirements to Study

Costs

Cost of obtaining lab gown and safety glasses is the responsibility of the student.

Resources

You will be referred to appropriate scientific articles/reports, websites and other online resources via the LQB490 Canvas site where required.

Resource Materials

Recommended text(s)

Additional helpful texts and resources for this unit include:

Burtis C,A., & Bruns, D.E. (2015). Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics, (7th ed.). Saunders Elsevier.

Gersen, S.L. (2011). The principles of clinical cytogenetics (3rd ed.). Springer Press. Available QUT Library eBook.

Grody, W.W. (2009). Molecular diagnostics: techniques and applications for the clinical laboratory. Elsevier Science. Available QUT Library eBook.

Heime, S. (2010). Cancer cytogenetics: chromosomal and molecular genetic aberrations of tumor cells (3rd ed.). Wiley. Available QUT Library eBook.

Kessler, H.H. (2012). Molecular diagnostics of infectious diseases (2nd ed.) De Gruyter. Available QUT Library eBook.

Pisano et al. (2007). FISH cytogenetics. Enfield. Available QUT Library eBook.

The recommended reference for this unit is:

Gardner, R.J.M,, Sutherland, G.R., & Shaffer, L.G. (2012). Chromosome abnormalities and genetic counselling (4th ed.). Oxford University Press. Available QUT Library eBook and 616.042.

Safety and protective equipment

Practicals will require personal protective equipment supplied by each student:
1. Laboratory Gown - Rear fastening 100% cotton or polyester/cotton mix
2. Safety eye protection glasses - selected and used in accordance with Australian Safety Standards
3. Fully enclosed non-slip shoes

Risk Assessment Statement

This unit includes a laboratory component. In order that you become proficient in necessary practical skills, you will be trained in the handling of equipment, materials and specimens normally associated with this discipline. You are required to view a Health & Safety Induction video and complete an online health and safety quiz prior to being permitted into the laboratory, to access please follow this link Health & Safety Induction. A passing score of 10/10 is required and will be checked prior to entry to the first laboratory session. You may repeat the quiz until this score is achieved. You are also referred to the Faculty of Health's Health & Safety Web Site for further information.

If you have an underlying health condition you are encouraged to consult the lecturer in charge of the unit, as you may be required to take additional precautions on occasions.

Course Learning Outcomes

This unit is designed to support your development of the following course/study area learning outcomes.

LS47 Bachelor of Medical Laboratory Science

  1. Discipline Knowledge
    Relates to: Case Study, Examination (Theory), Quiz/Test
  2. Professional (including OHS and QA) Knowledge
    Relates to: Quiz/Test
  3. Ethical knowledge
    Relates to: Case Study, Examination (Theory)
  4. Interpretation and application of protocols
    Relates to: Case Study, Quiz/Test
  5. Analysis and interpretation of data
    Relates to: Case Study, Examination (Theory), Quiz/Test
  6. Synthesis, judgement, and explanation
    Relates to: Case Study, Examination (Theory), Quiz/Test
  7. Scientific communication skills including information literacy and numeracy
    Relates to: Case Study
  8. Quality assurance
    Relates to: Quiz/Test
  9. Professional behaviours
    Relates to: Examination (Theory)