University of Technology Sydney

69509 Genomics and Precision Medicine

Warning: The information on this page is indicative. The subject outline for a particular session, location and mode of offering is the authoritative source of all information about the subject for that offering. Required texts, recommended texts and references in particular are likely to change. Students will be provided with a subject outline once they enrol in the subject.

Subject handbook information prior to 2024 is available in the Archives.

UTS: Science: Life Sciences
Credit points: 2 cp
Result type: Grade and marks

There are course requisites for this subject. See access conditions.
Anti-requisite(s): 60003 Genomics and Precision Medicine

Description

Precision medicine, also referred to as personalised or individualised medicine, is the tailoring of interventions for the prevention and treatment of disease to the individual characteristics of a patient. This includes individual variability in genes, environment, and lifestyle for each person. The complete sequencing of the human genome, along with current advances in genome sequencing, has facilitated the development of precision medicine and its applications beyond genomics and into the entire spectrum of molecular medicine. As such, precision medicine holds great promise for the improvement of many aspects of health and healthcare, both now and in the future.

This subject provides students with the foundational information underpinning personalised medicine and its application in patients, including DNA structure, gene structure and function, genetic inheritance, genome sequencing, ‘omics’ technologies and the structure and function of the human genome. Some of the ethical, social, and legal issues associated with precision medicine approaches are also covered. Current examples, case studies and applications of precision medicine are used to highlight the benefits and challenges of the technology.

Subject learning objectives (SLOs)

Upon successful completion of this subject students should be able to:

1. Demonstrate an understanding of precision medicine and precision medicine approaches in clinical practice.
2. Comprehend the broad implications of individual DNA sequence variation and its contribution to disease.
3. Explain and appreciate the role of genes and their expression in the context of health and disease.
4. Interpret and critically evaluate precision medicine approaches and communicate the results of a precision medicine approach in the form of an informative scientific brochure.
5. Evaluate and synthesise the literature in the context of contemporary and emerging ‘omics’ and precision medicine technologies and their applications.

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)
  • 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

Genomic and Precision Medicine is a subject that can be selected as an elective within either the Graduate Diploma in Medical Laboratory Science. This subject aims to develop knowledge of current ‘omics’ and precision medicine approaches and applications and provide a sound theoretical background to understand the genetic basis of disease and its treatment.

This subject links to the desired Faculty of Science graduate attributes of:

1. Disciplinary knowledge

The knowledge and understanding of ‘omics’ and precision medicine techniques and approaches covered in this subject, emphasise the importance of precision medicine in patient treatment and aid in developing competence for professional practice and research. You will also acquire the sound theoretical background to understand the basis of precision medicine approaches and their importance in future decisions relating to disease treatment and prevention strategies. This will be achieved through delivery of the subject curriculum which is reinforced through participation in the online discussions.

2. Research, Inquiry and Critical Thinking

You will develop skills and expertise in precision medicine strategies, problem solving and critical thinking skills through the online learning program, which utilises case studies to illustrate principles of disease and precision treatment strategies. You will also explore the biology of various human genetic diseases and gain important skills in finding and integrating knowledge on gene expression and gene mutation.

3. Professional, Ethical and Social Responsibility

Through participation in this subject, you will develop skills in genetics, ‘omics’ technologies and an understanding of the genetic basis of disease, which are the underpinning tenets of precision medicine. You will also gain an awareness of the role of precision medicine in science and clinical practice and, more broadly, within our global culture. An understanding of precision medicine technologies will highlight some of the ethical, legal and social considerations associated with such approaches, which will be discussed. The impact of precision medicine, socially and economically, both globally and for individuals, will be explored in this subject. Online media will be used to facilitate these discussions.

5. Communication

Communication skills are fostered through the final assessment in which you will prepare a short, written brochure outlining a precision medicine strategy for a genetic disease of interest. Scientific writing in this context will develop the capacity to organise and present information and data to effectively communicate and document scientific work or principles to an appropriate audience. You will be assessed on your ability to communicate a precision medicine strategy.

Teaching and learning strategies

This subject will be delivered online. Online learning materials and quizzes will be made available through the CANVAS online learning system.

Online live weekly Q&A sessions will be conducted via Zoom to enable you to learn, clarify, discuss and develop concepts learned in the subject. Online learning times will be made available through CANVAS.

Subject content will be presented online and will be reinforced by additional reading and online learning content made available through CANVAS. Videos and online learning resources will be used as a prompt for discussion of key concepts. A discussion board will also be available for any questions that you may have.

In addition to the online subject content, you will have access to all quizzes and revision materials.

Specific opportunities for feedback are described within each of the specific assessment tasks.

Content (topics)

This course is designed to provide you with an introduction to human genetics, human genome sequencing and the use of DNA sequence information to inform clinical decisions for the use of tailored precision medicine approaches for disease management and cure. Examples and case studies of precision medicine approaches will be introduced.

The topics covered in this subject will include the following:

- Introduction to DNA, chromosomes, genes, gene structure, gene expression and its regulation.

- Introduction to human genome sequencing, the human genome project and ‘omics’ technologies.

- Human genome sequence variation and disease.

- Precision medicine and the use of genetic, and other information, for tailoring disease treatments.

- Examples and case studies of precision medicine approaches to disease treatment and cure.

- The promise and future challenges of precision medicine including ethical, social and legal challenges.

Assessment

Assessment task 1: Module Quizzes

Intent:

This assessment task contributes to the development of graduate attribute(s):

1. Disciplinary knowledge

2. Research, Inquiry and Critical Thinking

3. Professional, Ethical and Social Responsibility

Objective(s):

This assessment task addresses subject learning objective(s):

1, 2 and 3

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: 60%
Length:

Module quizzes will vary between 10-15 questions in length.

Criteria:

Correctness of answers to the set quiz questions which test the level of knowledge and understanding of the subject material as well as the application of problem solving skills.

Calculations and analysis as required.

Assessment task 2: Precision Medicine Brochure

Intent:

This assessment task contributes to the development of graduate attribute(s):

1. Disciplinary knowledge

2. Research, Inquiry and Critical Thinking

3. Professional, Ethical and Social Responsibility

5. Communication

Objective(s):

This assessment task addresses subject learning objective(s):

1, 3, 4 and 5

This assessment task contributes to the development of course intended learning outcome(s):

1.1, 2.1, 3.1 and 5.1

Type: Case study
Groupwork: Individual
Weight: 40%
Length:

The length of this assessment task is 1500 words maximum and instructions for the preparation and submission of the brochure will be provided online in Canvas.

Criteria:

Quality and relevance of the information provided.

Adequate coverage of the topic, thus assessing your ability to evaluate the varied literature on your chosen disease.

The use of appropriate scientific language in the document, thus developing your ability to communicate data in written form.

Minimum requirements

A total of 50% or higher must be obtained for a pass in this subject.

References

1. Deigner, H-P. and Kohl, M. 'Precision Medicine: Tools and Quantitative Approaches'. Elsevier Publishers (2018).

2. El-Khamisy, S. (Ed) ‘Personalised Medicine, Lessons From Neurodegeneration to Cancer’. Springer Advances in Experimental Biology and Medicine. Volume 1007 (2017).

3. McCarthy, J.C. and Mendelsohn, B.A. 'Precision Medicine: A Guide to Genomics in Clinical Practice'. McGraw Hill (2017).

4. Jain, K.K. ‘Textbook of Personalized Medicine’ (2nd Edition). Humana Press (2015).

5. Dudley, J.T. and Karczewski, K.J. ‘Exploring Personal Genomics’. Oxford University Press (2013).

Other resources

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For other resources/ information refer to the Faculty of Health website (www.uts.edu.au/about/faculty-health) and Canvas at: https://canvas.uts.edu.au/.

UTS Library
The Library has a wide range of resources, facilities and services to support you including textbooks, subject readings, health literature databases, workshops and bookable study rooms. There is also a team of librarians to help you with your questions available via online chat, phone and in person. W: lib.uts.edu.au, Facebook: utslibrary, Twitter: @utslibrary Tel: (02) 9514 3666.

Improve your academic and English language skills
Marks for all assessment tasks such as assignments and examinations are given not only for what you write but also for how you write. If you would like the opportunity to improve your academic and English language skills, make an appointment with the HELPS (Higher Education Language & Presentation Support) Service in Student Services.

HELPS (Higher Education Language & Presentation Support)
HELPS provides assistance with English language proficiency and academic language. Students who need to develop their written and/or spoken English should make use of the free services offered by HELPS, including academic language workshops, vacation intensive courses, drop-in consultations, individual appointments and Conversations@UTS (www.ssu.uts.edu.au/helps). HELPS staff are also available for drop-in consultations at the UTS Library. Phone (02) 9514 9733.

Please see www.uts.edu.au for additional information on other resources provided to students by UTS.

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