LQB495 Molecular Genomics

Unit Outline: Semester 2 2026, Gardens Point, Internal

Overview

This unit provides high-level training in human molecular pathology to provide clinical and research scientists with the core knowledge and practical skills for the detection and clinical interpretation of germline and somatic chromosomal genomic disorders. This unit will provide a foundation applicable to diagnostic molecular genomic and research laboratories.

Learning Outcomes

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

1. Recall theoretical and practical concepts, and apply technical skills required for understanding the molecular basis of disease and the diagnostic approach in clinical laboratories
2. Apply practical knowledge using case-based approach to learning
3. Apply professional and ethical knowledge appropriate for the molecular 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

Learning Approaches

This unit introduces you to the foundation concepts of molecular genomics. You will have opportunities to apply your knowledge and skills through a practical approach. The unit comprises weekly on-line lectures, that are closely aligned with a series of laboratory classes. 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 molecular laboratories. Participation in the practicals will be necessary for completion of the assessments.The LQB495 Canvas site is used to provide resource material and regular unit update.

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. The on-line discussion board is a key place that you can ask for and receive feedback on your understanding of course materials and lecture content. 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

There are three summative assessment items in LQB495. Assessment 1 is a case study that relates to a germline condition and provides you the opportunity to synthesize the knowledge gained during this course in order to summarize the clinical features of a condition and to explain the genetic basis of the condition.  Assessment 2 comprises of a practical laboratory workbook and reflection that assesses your practical knowledge and understanding. Assessment 3 is a written exam theory examination, covering the semester's content consisting of a mixture of multiple choice, limited multiple-choice questions and more detailed short answer and long answer questions. Participation in the practical sessions will be necessary for completion of these assessments.

General Assessment Information

Due to the applied clinical laboratory nature of LQB495 and for you to meet the requirements of course accreditation, threshold assessment conditions apply to the grading in this unit. A minimum of 50% in both theory and practical assessment tasks is required to successfully complete this unit. If you fail either the practical or theory assessment components, and have meaningfully attempted all assessment tasks, and have obtained a result of 45-49% for the failed section, 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 LQB495, if you are unable to attend a practical session, you should inform the unit coordinator by email within 48hrs and provide supporting documentation for your absence 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 absences from practical sessions, no marks will be given for related assessment. Participation in the practical sessions is necessary for completion of these assessments.

Unit Grading Scheme

7- point scale

Assessment Tasks

Assessment: Case study report

You will prepare a case study report of a genetic condition that is within a real life clinical context. You will be required to synthesize information presented in the unit to interrogate the literature, to describe the clinical features of the condition and the significance of the genetic variant detected. You will apply and demonstrate practical and theoretical molecular genomic concepts, applied knowledge and analysis. (Formative and summative).

This assignment is eligible for the 48-hour late submission period and assignment extensions.

Threshold Assessment:

Threshold conditions apply.  Students need to obtain greater than or equal to 50% for the combined practical assessments (assessment 1 and assessment 2) and greater than or equal to 50% in the unit overall to pass.

Assessment: Practical Workbook

You will collate the results of the case study/clinical investigation that you perform during the practical sessions.  Your results, together with a written reflection on the technology used and clinical interpretation of the results, will be submitted at the completion of the practical sessions in weeks 8, 9 and 12.  

Threshold Assessment:

Threshold conditions apply.  Students are required to obtain greater than or equal to 50% for the combined practical assessments (assessment 1 and assessment 2) and greater than or equal to 50% in the unit overall to pass.

Assessment: Theory Examination

You will apply and demonstrate practical and theoretical knowledge of molecular genomics to ensure that you have a sound knowledge needed to work in this field. Assesses weeks 1-13 (summative). It will consist of multiple choice, short answer and long answer questions.

Threshold Assessment:

Threshold conditions apply.  Students need to obtain greater than or equal to 50% for the theory examination and greater than or equal to 50% in the unit overall to pass.

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.

Requirements to Study

Costs

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

Resources

Resource Materials

Prescribed text(s)

The recommended reference for this unit is:

Strachan T., and Read A., (2018). Human Molecular Genetics, (5th ed.) Taylor and Francis Inc US. (ISBN 9780815345893)

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.

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

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

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

LS47 Bachelor of Medical Laboratory Science

1. Discipline Knowledge
   Relates to: ULO1, Case study report, Theory Examination
2. Professional (including OHS and QA) Knowledge
   Relates to: Theory Examination
3. Ethical knowledge
   Relates to: ULO3, Practical Workbook , Theory Examination
4. Technical proficiency
   Relates to: ULO1, ULO2, Case study report
5. Interpretation and application of protocols
   Relates to: ULO2, Practical Workbook , Theory Examination
6. Analysis and interpretation of data
   Relates to: Case study report
7. Synthesis, judgement, and explanation
   Relates to: Practical Workbook
8. Scientific communication skills including information literacy and numeracy
   Relates to: ULO4, Practical Workbook , Theory Examination
9. Professional behaviours
   Relates to: Practical Workbook