University of Technology Sydney

96076 Genomics in Healthcare

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 2025 is available in the Archives.

UTS: Health
Credit points: 6 cp

Subject level:

Postgraduate

Result type: Grade and marks

Description

Genomics is an emerging reality in healthcare delivery with an increasing impact on individual patients, families, the broader community and diverse healthcare settings. Genomics is central to our understanding of human health and disease and has ethical, legal and societal implications in healthcare that cannot be underestimated. This subject extends postgraduate students' knowledge and understanding of key concepts of genomic science. Students connect with a diverse range of case scenarios to discern where genomics is implicated in a contemporary Australian healthcare setting including global perspectives. Students explore opportunities to engage with all members of the multidisciplinary healthcare team to consider how genomics influences clinical practice in acute, primary and secondary care settings. Students investigate public health genomics, especially the role it plays in disease surveillance and prevention. Students develop evidence-based solutions from genomic information to respond to health breakdown, disparity and health system implementation challenges. Finally, students learn how genomics influences precision medicine and improves individualised patient care across the life span.

Subject learning objectives (SLOs)

Upon successful completion of this subject students should be able to:
A. Understand key biological concepts in genomics and genetics and key elements and role of DNA and recall significant events in the history of the genomic evolution and how it impacts on contemporary healthcare
B. Differentiate and discuss key biological concepts in genomics/genetics to deep dive into the evidence for genomics applications in healthcare
C. Utilise effective communication skills to implement genomics evidence for individuals and families, across diverse health care settings and populations in management plans, programs and policy advice
D. Appraise the range of genetic testing options in patient or community- based scenarios to assess implementation and utility strategies for either individual care or public health programs
E. Interpret and debate genomic specific ethical and legal issues within the context of a variety of patient and community- based scenarios including health inequalities in indigenous Australians.
F. Synthesise the evidence regarding the effects of pharmacogenomics on quality use of medicines and on the health of the individual patient, consumer or population

Course intended learning outcomes (CILOs)

This subject also contributes specifically to the following graduate attributes:

  • Demonstrate reflective critical thinking to enable critical appraisal of current practice, policy and research with the aim to enhance health care and healthcare outcomes, and transform health (1.0)
  • Critique, interpret and synthesise data and research findings to inform the surveillance, management, prevention of disease and illness and promotion of health for the complex issues inherent in public health (1.1)
  • Communicate effectively and appropriately in challenging, complex and diverse situations (4.0)
  • Establish a commitment to the development of knowledge and skills within public health in order to prioritise reducing disease, disability and illness (5.1)

Contribution to the development of graduate attributes

This subject also contributes specifically to the following graduate attributes (GA):

  • Are reflective critical thinkers who contribute to practice, policy, and research to enhance health care and health outcomes (1.0)
  • Are effective, collaborative and responsive leaders (2.0)
  • Are socially, culturally and ethically accountable and consider health care in a global context (3.0)
  • Communicate appropriately and consistently in diverse situations (4.0)
  • Demonstrate professional cultural competency which contributes to the health and wellbeing of Indigenous Australians, inclusive of physical, social, emotional and spiritual wellness (6.0)

Teaching and learning strategies

Strategy 1: Learning through engagement with each module
Prior to each of the workshops students will work through 2 modules in Canvas which will prepare them to engage meaningfully with workshop concepts and activities. Each module contains a module overview articulating the key themes and concepts of the module, the module learning outcomes and the sequence of activities and assessment tasks. Initial student engagement commences in polls placed at the start and end of each Module. These self-assess genomic literacy levels and views on genetics and genomics plus pre-knowledge level of the specific content focus of the Module. They allow students to gauge their level of their knowledge and compare opinions with their peers in an anonymous and safe way. Formative quizzes on key concepts are embedded throughout the Modules to allow students to consolidate and track their learning progress and prepare for the end of module summative quiz. Discussion forums also allow students to articulate ideas and discuss issues with their peers. At the completion of each Module a self-assessment quiz and a reflection piece allow students the opportunity to further consolidate and personalise their learning. These quizzes and reflections can be collected in the Canvas ePortfolio, which students will be able to export and take away as a record of their learning.

Each module contains key resources, including reading lists for text book reading, cases and short videos or podcasts guided activities and exercises designed to apply and consolidate understanding of key concepts and cases taught in the subject. In order to pass this subject, students are required to complete all of the four modules and undertake additional reading and research. While self-managed learning offers choices about how and when to study, an effective time management strategy that nominates regular times each week for progressing in the four modules of this subject is essential for successful completion. Careful planning of study times, actively engaging with each module and monitoring their progress through the subject modules provides students with opportunities to reflect upon their learning and self-management skills.

By actively participating in the guided activities, self-assessment questions and discussion questions in each Module, students can test their learning, clarify understanding and challenge ideas about the material presented in each Module.

Strategy 2: Learning through discussion
Each module will contain guided discussion questions for students to articulate ideas and discuss issues. Students will engage in collaborative discussion and evaluation of the materials in each module, which will assist them in developing new perspectives, testing their ideas and understanding, and identifying areas for clarification. Students will have the opportunity to ask questions of their peers and of the teacher to assist them in consolidating their own learning. These discussion forums will also assist students in preparing for in-class debates by encouraging them to articulate and support their opinions and arguments regarding contemporary issues in genomics and be exposed to ideas and opinions from other students.

Strategy 3: Engaging in activities and discussion in each module
The teacher and guest speakers will provide perspectives on the recommended readings and clarification of aspects of genomics in healthcare through interview videos and audio material such as TED talks. Students also engage with the material in each Module by asking and responding to questions, by participation in guided activities in each Module and by discussion. Discussion and various activities in each module will extend the ideas of the lecture in new directions or in greater depth. By actively participating in discussion and the activities in each Module, students are able to engage with the material, clarify understanding and challenge ideas.

Strategy 4: Learning to critically appraise, synthesise and apply evidence-based practice
Critical appraisal of evidence is an essential skill for a health professionals and public health practitioners. Problem solving involves interpreting and analysing evidence and applying and translating this evidence to novel and difficult clinical and community-based situations. All students will participate in Workshops. In Workshop 1 students will improve their skills in a mock debate around a given topic to develop the ability to construct reasoned arguments and deep dive into the evidence. This leads to planning a logical outline before attempting Assessment Task 2 an Essay.

Strategy 5: Learning communication skills: effective written and oral communication skills
The ability to communicate with all members of the health care team, patients, community members and policy makers is an essential skill for health professionals and public health practitioners. There are many examples where genomic evidence is utilised such as in disease prediction, prenatal screening, family planning, or decisions about treatment options. Understanding how to best explain and present the benefits and drawbacks of genomic evidence to patients, communities and policy makers is essential to alleviate unnecessary concern and to advocate for better health outcomes overall. In Workshop 2 students combine their critical appraisal skills with a deeper engagement with the ethical issues generated from a pharmacogenomics scenario. This leads to choosing a medication and two associated ethical issues raised by the group discussion and planning forward for Assessment item 3, an Audio-visual medium to present the Ethics of Pharmacogenomics.

Content (topics)

Online Content includes:

  • Module 1. Genetic and Genomic Biological Concepts
  • Module 2. Prevention and Diagnosis: Genetic risk
  • Module 3. Genomics Translation: Individualised healthcare
  • Module 4. Legal, Ethical and Social considerations

Workshops: There are two face to face one day Workshops.

Workshop 1: Monday 23rd March

Workshop 2: Wednesday 6th May

Assessment

Assessment task 1: 4 Module Online tests

Intent:

These assessment items contribute to student learning promoting comprehensive knowledge across these four key conceptual domains and promoting student awareness of learning by capturing learning achieved throughout the four Modules in a timely manner.

Objective(s):

This assessment task addresses subject learning objective(s):

A

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

1.0

Type: Quiz/test
Groupwork: Individual
Weight: 20%
Length:

20 minutes each

Criteria:
  1. Accuracy in identifying and analysing core genomics biological concepts
  2. Accuracy in identifying and analysing core genomics prevention and diagnosis concepts
  3. Accuracy in identifying and analysing key genomics translational concepts
  4. Accuracy in identifying and analysing core genomics ethical, legal and social concepts

Assessment task 2: Essay

Intent:

The assessment item contributes to student learning by promoting comprehensive knowledge of both sides of the genomics era debate, including the challenges and opportunities genomic science brings to healthcare for societies and individuals.

Objective(s):

This assessment task addresses subject learning objective(s):

B, C, E and F

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

1.0, 1.1 and 4.0

Type: Essay
Groupwork: Individual
Weight: 40%
Length:

2000 words

Criteria:
  1. Clearly and concisely states intention and context (public health or individual patient) and key issues to be discussed in the introduction paragraph of the essay
  2. Clearly defines rationale that supports or refutes the statement using appropriate scholarly evidence throughout the essay
  3. Develops a balanced argument with logical flow of ideas to identify issues raised that support or refute the statement
  4. Synthesises and critiques relevant evidence that supports or refutes the statement
  5. Includes a conclusion that clearly states the final evidence-based position. This may be for or against OR may be inconclusive but must be evidence based

Assessment task 3: Audio-visual Presentation of the Ethics of Pharmacogenomics

Intent:

Contributes to student learning by assisting students to develop a deeper understanding of complexity of the pharmacogenomic ethical considerations currently influencing the health of societies, individuals and families.

Objective(s):

This assessment task addresses subject learning objective(s):

B, C, E and F

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

1.0, 4.0 and 5.1

Type: Presentation
Groupwork: Individual
Weight: 40%
Length:

Please note: 5 minutes maximum

Criteria:
  • Clearly identify one ethical issues to be discussed (identified and discussed in Workshop 2).
  • Define the pharmacological agent and the genomic relevant associations
  • Identify and discuss the ethical implications for society or the individual (public health cost, inequity, access to services, cost, confidentiality, personal information in relation to the pharmacological agent (example: safety and toxicity, pharmacodynamics /pharmacokinetics)
  • Explore the relationship between the ethical issue and the pharmacological agent and highlight its impact on public health resources OR the individual.
  • Discuss two health related translational challenges or opportunities
  • Summarise discussion and highlight one challenge or opportunity for the future

References

Emilio Mordini (2004) Ethical considerations on pharmacogenomics Pharmacological Research 49 (2004) 375–379

Muin J. Khoury, MD, PhD, Michael S. Bowen, MPH, Wylie Burke, MD, PhD, Ralph J. Coates, PhD, Nicole F. Dowling, PhD, James P. Evans, MD, PhD, Michele Reyes, PhD, and Jeannette St. Pierre, MA, MPH (2011) Current Priorities for Public Health Practice in Addressing the Role of Human Genomics in Improving Population Health. Am J Prev Med. 2011 April ; 40(4): 486–493. doi:10.1016/j.amepre.2010.12.009.

Elliot S. Gershon, MD; Ney Alliey-Rodriguez, MD; Kay Grennan, MA. (2014) Ethical and public policy challenges for pharmacogenomics. Dialogues in Clinical Neurosciences, 16; 567- 574. https://www.dialogues-cns.org.

Camak, D. (2016). Increasing important of genetics in nursing. Nurse Education Today,2; 86-91. https://doi.org/10.1016/j.nedt.2016.05.018

Heidi L. Rehm (2017) Evolving health care through personal genomics. Nature Review-Genetics; 18; APRIL 2017, 259.

National Health and Medical Research Council (2013). Australian Government, NHMRC Strategic Plan for 2013-15. Available from: https://www.nhmrc.gov.au/guidelines-publications/nh160

NIH/NHGRI. National Human Genome Research Institute. Available at: https://www.genome.gov/

Other resources

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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.