GMED5001: Semester 1, 2021

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Units GMED5001 Semester 1 2021 [Online]

Unit of study_

GMED5001: Genomics in Clinical Practice

Semester 1, 2021 [Online] - Camperdown/Darlington, Sydney

Overview

Recent major advances in understanding of the human genome and the relationship between genetic variation and disease have changed clinical practice. This unit provides contemporary knowledge of genetic disease, diagnosis, genomic testing, prognosis, management, inheritance and impact across a range of chromosomal, single gene and heterogeneous genetic conditions. You will study common conditions, such as intellectual disability, inherited cancer, and paediatric and adult-onset disorders, as well as genomic mechanisms and genetic variations which lead to human disease. A case based approach will be used to develop skills in interpretation of clinical, family history and genomic test results to formulate an appropriate diagnosis and accurate genetic risk information. Ethical issues in genomic medicine will also be considered. Advances in treatments for genetic diseases will be explored, along with possible uses and limitations of new technologies, including genome editing approaches. The RACP Clinical Genetics Advanced Training Committee has approved this unit to fulfill the Genetics University Course Requirement for advanced training in Clinical Genetics. It is suitable for all practitioners who require a working knowledge of genomics in clinical practice.

Unit details and rules

Unit code	GMED5001
Academic unit	Genomic Medicine
Credit points	6
Prohibitions ?	None
Prerequisites ?	None
Corequisites ?	None
Assumed knowledge ?	None
Available to study abroad and exchange students	No

Teaching staff

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

Type	Description	Weight	Due	Length
Final exam (Live+ supervised)	Final Graded Exam MCQs and short answer questions	40%	Formal exam period	1 hour
Outcomes assessed:
Small test	Quizzes MCQs and SAQs	15%	Multiple weeks	3x 30 minutes
Outcomes assessed:
Online task	Peerwise See Canvas for details	15%	Multiple weeks	2x cycles
Outcomes assessed:
Online task	Discussion boards See Canvas for details	30%	Multiple weeks	4x 500 words plus replies to peers
Outcomes assessed:
= Type A final exam ?

Assessment summary

Quizzes: Students are to complete 3 graded quizzes
Peerwise: Students must author 3 questions, critique 3 questions and answer 5 questions for each cycle. There are 2 cycles throughout the unit.
Discussion Boards: Each discussion board will have a clinical scenario followed by some questions. Students must provide answers with references. Students must attempt all 4 discussion boards but only the top 3 marks will contribute to the final mark.
Final Exam: The exam will contain a mixture of MCQs and SAQs

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.

This unit has an exception to the standard University policy or supplementary information has been provided by the unit coordinator. This information is displayed below:

Please note, for this unit of study (GMED5001) the late submission penalty will be 5% of the maximum awardable mark for each calendar day after the due date for 5 calendar days only. This is to ensure that timely feedback is provided to students. If the assessment is submitted more than 5 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: DNA, RNA, genes, chromosomes and inheritance	Online class (10 hr)
Week 02	Module 2: genetic testing, genomic technologies and their applications for diagnosis	Online class (10 hr)
Week 03	Module 3: genomic results and variant interpretation	Online class (10 hr)
Week 04	Module 3: genomic results and variant interpretation	Online class (10 hr)
Week 05	Module 4: familial genetic assessment and ethical considerations	Online class (10 hr)
Week 06	Module 5: molecular basis of inheritance 1	Online class (10 hr)
Week 07	Module 6: molecular basis of inheritance 2	Online class (10 hr)
Week 08	Module 7: molecular basis of inheritance 3	Online class (10 hr)
Week 09	Module 7: molecular basis of inheritance 3	Online class (10 hr)
Week 10	Module 8: chromosomal and contiguous gene syndromes	Online class (10 hr)
Week 11	Module 9: disorders with other inheritance patterns and considerations	Online class (10 hr)
Week 12	Module 10: genetic metabolic disorders	Online class (10 hr)
Week 13	Module 11: cancer genetics	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.

Required readings

Specific readings will be listed on Canvas.

Strachan, T., & Read, A. (2019). Human molecular genetics (Fifth edition.). CRC Press

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. Understand the biology of DNA, RNA, protein, chromosomes and cellular division that underlies modern genomic medicine
LO2. Describe the different categories of genetic variation and interpret genetic test reports with regard to classification of variant pathogenicity
LO3. Interpret family pedigrees, perform recurrence risk calculations and appreciate the complexity of genetic counselling in the setting of pregnancy and family planning
LO4. Manage a number of common genetic conditions, representing each of the important inheritance patterns, and including chromosomal aneuploidies and contiguous gene syndromes
LO5. Understand the concepts important to the genetic metabolic disorders, including diseases characterised by acute metabolite toxicity and those where chronic organelle dysfunction causes disease manifestations
LO6. Manage testing and counselling of families with inheritable forms of cancer, particularly breast and ovarian cancer, and bowel cancer.

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.

The following changes have been made to this unit of study since 2020: - Reduced the criteria for each Peerwise cycle - Reduced the number of Discussion Boards - Modified the Discussion Board questions to accommodate for clinicians and scientists 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 Survey and the unit of study Evaluation Survey 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

Professional Education in Health - Student hub

Work, health and safety

We are governed by the Work Health and Safety Act 2011, Work Health and Safety Regulation 2011 and Codes of Practice. Penalties for non-compliance have increased. Everyone has a responsibility for health and safety at work. The University’s Work Health and Safety policy explains the responsibilities and expectations of workers and others, and the procedures for managing WHS risks associated with University activities.

General Laboratory Safety Rules

No eating or drinking is allowed in any laboratory under any circumstances
A laboratory coat and closed-toe shoes are mandatory
Follow safety instructions in your manual and posted in laboratories
In case of fire, follow instructions posted outside the laboratory door
First aid kits, eye wash and fire extinguishers are located in or immediately outside each laboratory
As a precautionary measure, it is recommended that you have a current tetanus immunisation. This can be obtained from University Health Service: unihealth.usyd.edu.au/

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

Required readings

Learning outcomes

Learning outcomes

Graduate qualities

Outcome map

Responding to student feedback

Responding to student feedback

Additional information

Additional information

Work, health and safety

Disclaimer

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