GMED5003: Semester 2, 2022

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Units GMED5003 Semester 2 2022 [Online]

Unit of study_

GMED5003: Advanced Genomics in Clinical Practice

Semester 2, 2022 [Online] - Camperdown/Darlington, Sydney

Overview

Major advances and mainstreaming in genomics are impacting all specialty areas of medicine, leading to new approaches in diagnosis and management across a large range of conditions. This unit provides contemporary knowledge of these advances in many key subspecialty areas such as neurology, nephrology, cardiology, ophthalmology, and paediatric genomics. This unit is for the advanced level non-genetics professional, aimed at providing the skills and understanding to be able to implement genomics in their own field of medicine, and understand the latest trends and approaches to genomic medicine. Students will gain a sophisticated knowledge and understanding of the integration of genomic and disease-specific clinical knowledge for optimum management, in a multidisciplinary approach with genetic counselling, bioinformatics, and molecular genetics. Case based multidisciplinary approaches will be used to develop skills to analyse the genetic and genomic literature in the context of disease-specific features and the clinical situation, to provide the most appropriate and timely diagnostic and genetic risk information for patients and families. System and disease-specific advances in management of genetic conditions will be a focus including use of precision pharmacological and genetic therapies. There will also be an emphasis on the counselling and ethical issues of genomics, with input from consumer groups, education, health policy, and indigenous genomics experts.

Unit details and rules

Unit code	GMED5003
Academic unit	Genomic Medicine
Credit points	6
Prohibitions ?	None
Prerequisites ?	None
Corequisites ?	None
Assumed knowledge ?	This unit of study assumes knowledge equivalent to GMED5001. It is strongly recommended that students who lack a good working knowledge of genomics complete GMED5001 before enrolling in this unit
Available to study abroad and exchange students	No

Teaching staff

Coordinator	Alan Ma, alan.ma@sydney.edu.au
Tutor(s)	Annabelle Enriquez, annabelle.enriquez@sydney.edu.au
	Gladys Ho, gladys.ho@sydney.edu.au
	Ingrid Sinnerbrink, ingrid.sinnerbrink@sydney.edu.au

Type	Description	Weight	Due	Length
Final exam (Live+ supervised)	Final Graded Exam Combination of MCQs and SAQs	40%	Formal exam period	1 hour
Outcomes assessed:
Online task	Graded Quizzes 15 questions each	10%	Multiple weeks	2x 30 minutes
Outcomes assessed:
Small continuous assessment	Graded Discussion Board See Canvas for details	40%	Multiple weeks	2x 5-minute video posts, 2x 500 words
Outcomes assessed:
Online task	Peerwise See Canvas for details	10%	Week 11	1x cycle
Outcomes assessed:
= Type A final exam ?

Assessment summary

Graded Quizzes: Students are to complete to 2x graded quizzes, consisting of MCQs and SAQs.
Peerwise: Students must author 3 questions, critique 3 questions and answer 5 questions for each cycle.
Graded Discussion Boards: Each discussion board will have a clinical scenario followed by some questions. Students must provide answers with references either via a video submission or a text post, then reply to a peer’s post.
Final exam: The exam will contain a mixture of single best answer questions, multiple answer questions and short answer questions.

Detailed information for each assessment can be found on Canvas.

Assessment criteria

The University awards common result grades, set out in the Coursework Policy 2014 (Schedule 1).

As a general guide, a high distinction indicates work of an exceptional standard, a distinction a very high standard, a credit a good standard, and a pass an acceptable standard.

Result name	Mark range	Description
High distinction	85 - 100
Distinction	75 - 84
Credit	65 - 74
Pass	50 - 64
Fail	0 - 49	When you don’t meet the learning outcomes of the unit to a satisfactory standard.

For more information see sydney.edu.au/students/guide-to-grades.

For more information see guide to grades.

Late submission

In accordance with University policy, these penalties apply when written work is submitted after 11:59pm on the due date:

Deduction of 5% of the maximum mark for each calendar day after the due date.
After ten calendar days late, a mark of zero will be awarded.

Academic integrity

The Current Student website provides information on academic integrity and the resources available to all students. The University expects students and staff to act ethically and honestly and will treat all allegations of academic integrity breaches seriously.

We use similarity detection software to detect potential instances of plagiarism or other forms of academic integrity breach. If such matches indicate evidence of plagiarism or other forms of academic integrity breaches, your teacher is required to report your work for further investigation.

You may only use artificial intelligence and writing assistance tools in assessment tasks if you are permitted to by your unit coordinator, and if you do use them, you must also acknowledge this in your work, either in a footnote or an acknowledgement section.

Studiosity is permitted for postgraduate units unless otherwise indicated by the unit coordinator. The use of this service must be acknowledged in your submission.

Learning support

Simple extensions

If you encounter a problem submitting your work on time, you may be able to apply for an extension of five calendar days through a simple extension.  The application process will be different depending on the type of assessment and extensions cannot be granted for some assessment types like exams.

Special consideration

If exceptional circumstances mean you can’t complete an assessment, you need consideration for a longer period of time, or if you have essential commitments which impact your performance in an assessment, you may be eligible for special consideration or special arrangements.

Special consideration applications will not be affected by a simple extension application.

Using AI responsibly

Co-created with students, AI in Education includes lots of helpful examples of how students use generative AI tools to support their learning. It explains how generative AI works, the different tools available and how to use them responsibly and productively.

Weekly schedule

WK	Topic	Learning activity
Week 01	Module 1: Genomics in the Clinic	Online class (10 hr)
Week 02	Module 1: Genomics in the Clinic	Online class (10 hr)
Week 03	Module 2: Counselling and Ethical, legal issues in genomics	Online class (10 hr)
Week 04	Module 2: Counselling and Ethical, legal issues in genomics	Online class (10 hr)
Week 05	Module 3: Multidisciplinary approach to genomics	Online class (10 hr)
Week 06	Module 3: Multidisciplinary approach to genomics	Online class (10 hr)
Week 07	Module 3: Multidisciplinary approach to genomics	Online class (10 hr)
Week 08	Module 3: Multidisciplinary approach to genomics	Online class (10 hr)
Week 09	Module 4: Advances in Clinical genomics practice	Online class (10 hr)
Week 10	Module 4: Advances in Clinical genomics practice	Online class (10 hr)
Week 11	Module 4: Advances in Clinical genomics practice	Online class (10 hr)
Week 12	Module 5: Advanced therapeutics and genomics	Online class (10 hr)
Week 13	Module 5: Advanced therapeutics and genomics	Online class (10 hr)

Study commitment

Typically, there is a minimum expectation of 1.5-2 hours of student effort per week per credit point for units of study offered over a full semester. For a 6 credit point unit, this equates to roughly 120-150 hours of student effort in total.

Learning outcomes

Learning outcomes are what students know, understand and are able to do on completion of a unit of study. They are aligned with the University's graduate qualities and are assessed as part of the curriculum.

Outcomes
Graduate qualities

At the completion of this unit, you should be able to:

LO1. Evaluate the role of genomic diagnostics, and how to order, interpret and explain genomic testing in the clinical setting
LO2. Examine the complex counselling, ethical and legal aspects of genomics, including the role of genetic counsellors, and the perspectives of patients and Aboriginal and Torres Strait Islander communities
LO3. Appraise the multidisciplinary team and functional genomics approaches for interpretation of genomic results, especially for variants of uncertain significance and novel genes
LO4. Evaluate the genomic approach in specific clinical subspecialty settings such as renal, ophthalmic, cardiac, and neurology.
LO5. Demonstrate how recent advances in genomics have had an impact on rare diseases, population genomics, congenital abnormalities, post-mortem, and neonatal settings
LO6. Assess how genomics is paving the way to precision medicine with gene specific therapies, pharmacogenomics, and pathogen genomics

Graduate qualities

The graduate qualities are the qualities and skills that all University of Sydney graduates must demonstrate on successful completion of an award course. As a future Sydney graduate, the set of qualities have been designed to equip you for the contemporary world.

GQ1	Depth of disciplinary expertise Deep disciplinary expertise is the ability to integrate and rigorously apply knowledge, understanding and skills of a recognised discipline defined by scholarly activity, as well as familiarity with evolving practice of the discipline.
GQ2	Critical thinking and problem solving Critical thinking and problem solving are the questioning of ideas, evidence and assumptions in order to propose and evaluate hypotheses or alternative arguments before formulating a conclusion or a solution to an identified problem.
GQ3	Oral and written communication Effective communication, in both oral and written form, is the clear exchange of meaning in a manner that is appropriate to audience and context.
GQ4	Information and digital literacy Information and digital literacy is the ability to locate, interpret, evaluate, manage, adapt, integrate, create and convey information using appropriate resources, tools and strategies.
GQ5	Inventiveness Generating novel ideas and solutions.
GQ6	Cultural competence Cultural Competence is the ability to actively, ethically, respectfully, and successfully engage across and between cultures. In the Australian context, this includes and celebrates Aboriginal and Torres Strait Islander cultures, knowledge systems, and a mature understanding of contemporary issues.
GQ7	Interdisciplinary effectiveness Interdisciplinary effectiveness is the integration and synthesis of multiple viewpoints and practices, working effectively across disciplinary boundaries.
GQ8	Integrated professional, ethical, and personal identity An integrated professional, ethical and personal identity is understanding the interaction between one’s personal and professional selves in an ethical context.
GQ9	Influence Engaging others in a process, idea or vision.

Outcome map

Learning outcomes	Graduate qualities
Learning outcomes

Responding to student feedback

This section outlines changes made to this unit following staff and student reviews.

No changes have been made since the last time the unit was offered. We value your feedback about any aspect of the unit of study and your experience as a student of Sydney Medical School. To help ensure our courses meet your needs and maintain a high standard, we welcome your feedback at any time, and we ask you to complete the Mid-Semester Evaluation and the Unit of Study Survey (USS) at the end of the semester. You can also rate any component of the unit using our star rating system found at the bottom of many pages as you progress through the unit. Your ratings and comments are anonymous and specifying what you liked and didn’t like about any of the learning materials, assessment items, discussion forums, feedback etc will help us to target our improvement efforts. Please note that your participation in this unit of study permits de-identified information about your learning experience and interaction with learning resources to be used for the purpose of improving the student learning experience.

Additional information

Student Hub - Clinical Professional Development

Disclaimer

The University reserves the right to amend units of study or no longer offer certain units, including where there are low enrolment numbers.

To help you understand common terms that we use at the University, we offer an online glossary.

Current students

Overview

Overview

Unit details and rules

Teaching staff

Assessment

Assessment

Assessment summary

Assessment criteria

Late submission

Academic integrity

Learning support

Learning support

Simple extensions

Special consideration

Using AI responsibly

Weekly schedule

Weekly schedule

Study commitment

Learning outcomes

Learning outcomes

Graduate qualities

Outcome map

Responding to student feedback

Responding to student feedback

Additional information

Additional information

Disclaimer

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