University of Technology Sydney

96106 Application of Genetics and Genomics

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: Health (GEM)
Credit points: 6 cp
Result type: Grade and marks

Requisite(s): 96110 Genetic Counselling AND 96108 Research Project 1 AND 96109 Research Issues in Genetic Counselling AND 96099 Genetic Counselling Clinical Placement 2
There are course requisites for this subject. See access conditions.

Description

Genetic counselling occurs at the interface between science and medicine, and the individuals and families living with inherited conditions. This subject extends the work begun in 96103 Medical Genetics and Genomics in Practice to ensure students bring a clear understanding of complex genetic and genomic technology to their work. Using case studies from a range of specialty areas including rare disease, familial cancer, cardiac genetics and neurogenetics, students are introduced to a range of cytogenetic, molecular genetic and genomic technologies and result interpretation. Human reproductive technology is discussed, risk calculation is introduced and the societal and ethical implications of genetic and genomic technology are considered. The material covered in this subject is further developed in 96111 Genetics and Genomics in Society.

Subject learning objectives (SLOs)

031. Identify, synthesise, organise and summarise medical and genetic/genomic information for use in a clinical consultation
032. Use relevant databases and the genetics/genomics literature to inform practice
034. Explain the potential risks and benefits of genetic/genomic tests to clients and their families and non-genetics health professionals
035. Explain the potential risks and benefits of reproductive screening and diagnostic tests to clients and their families and non-genetics health professionals
038. Facilitate client understanding of inheritance patterns
047. Explain the effect of Founder mutations on minority populations
050. Identify and articulate the role genes play in health and illness
052. Describe laboratory approaches to diagnostic, predictive and carrier testing
053. Describe key laboratory techniques used in clinical genetic and genomic assessment
054. Evaluate and integrate new technologies into genetic counselling practice
055. Apply knowledge of variant curation to the genetic counselling process
056. Accurately interpret screening test results and convey these to individuals and families
058. Interpret genetic and genomic test results
060. Discuss the benefits and limitations of test results
061. Communicate uncertain findings from genetic and genomic testing, including incidental findings and variants of uncertain significance
064. Discuss relevant risk-reducing measures to inform client decision-making

Course intended learning outcomes (CILOs)

The learning outcomes for this subject are as follows:

  • Apply evidence-based genetic and genomic health care to practice across a variety of settings and roles. (1.1)
  • Demonstrate appropriate and effective relationships with people from diverse communities. (3.1)
  • Provide education about genetics and genomics to a wide variety of audiences. (5.1)
  • Demonstrate the core tenets of the genetic counselling profession, including professional and ethical behaviour and responding positively to changes in genetic and genomic healthcare. (5.2)

Contribution to the development of graduate attributes

The subject contributes to the following graduate attributes:

Practice ready:

Graduates of the Master of Genetic Counselling are knowledgeable and literate healthcare practitioners, with well-developed workplace communication skills. They are skilled in providing evidence-based care to clients and their families in a variety of settings as autonomous and collaborative practitioners.

Professionally competent:

Graduates of the Master of Genetic Counselling embody professional and ethical practice and uphold knowledge and competency standards both locally and globally. They embrace opportunities for leadership and contribute to shaping the future development of the genetic counselling profession.

Teaching and learning strategies

Preparation for Learning: Pre-work is undertaken on Canvas prior to weekly live and online workshops. Students will be provided with preparation activities each week, including readings, discussions, reflection questions, case studies and videos that prepare them for the live and online sessions. Please ensure that prep work is carried out prior to the live and online session so that you have spent time accessing and making sense of ideas. Attending the live and online workshops will allow you to test these ideas and get feedback from the academic staff and peers which will further consolidate your learning.

Live and online workshops: Weekly live and online workshops provide students with opportunities to participate in discussion and problem-based learning activities. Guest lectures by experts in specific areas will occur during the weekly live and online workshops. The activities in the weekly workshops build on the prep work. Students will work in pairs, small groups and as a class during the workshops. Group discussions will often involve case-based learning activities. Students will participate in role play and learning activities to assist with the development of explanations of core concepts in preparation for clinical placement. Feedback will be provided by the teacher and by peers, using feedback models that will be provided.

Block workshops: Students will attend a block, during which they will participate in workshops that will include problem-based learning activities, practice of core skills for genetic counsellors, and class and group discussions. When core skills are practised, the teacher will provide guidance on how feedback should be provided, so that students receive immediate feedback from peers and from the teacher.

Research Integrated Learning: Taking an evidence-based approach to work with clients is an essential skill. Current research is integrated into content provided in prep work and workshops. Students are encouraged to seek out, read, discuss and utilise current research in medical genetics and genomics in the context of providing evidence-based care.

Reflective Learning: Students are encouraged to critically reflect on their learning and their skill development throughout the subject, to identify areas where they may improve their performance, and to assist in the development of lifelong learning. Opportunities for reflection include the weekly reflective practice supervision groups that are part of 96100 Genetic Counselling Clinical Placement 3.

Ongoing feedback: Verbal feedback will be provided throughout the subject during block and live and online workshops. Opportunities for verbal formative feedback on assessment tasks are available prior to the due date and summative feedback is provided following final submission. Peer and staff feedback on the video assessment tasks will be provided.

Content (topics)

Module 1 Genetic tests the science and interpretation (weeks 1-5)

Module 2 Prenatal and reproductive genetics (weeks 6-9)

Module 3 Assessing risk in the clinic (week 10)

Module 4 Uses in the clinic (weeks 11-13)

Module 5 Wrap up and revision (week 14)

Assessment

Assessment task 1: Fortnightly online quiz

Intent:

This assessment task gives students an opportunity for regular consolidation of the course content through a series of fortnightly online quizzes.

Objective(s):

This task is aligned with the following subject learning objectives:

031, 032, 047, 050, 052, 053, 055 and 060

This task is aligned with the following course learning outcomes:

1.1, 3.1, 5.1 and 5.2

Type: Quiz/test
Groupwork: Individual
Weight: 30%
Length:

5-10 questions per quiz

Criteria:

Students are assessed on their level of content-based knowledge, and on their ability to apply knowledge and problem solving to clinical cases.

The purpose of the quiz is to ensure students are consolidating their knowledge and understanding of course content throughout the session in order to be able to apply their learning when on clinical placements.

Marks awarded for individual questions are stated in the quiz.

Assessment task 2: Using counselling skills while providing explanations

Intent:

This assessment will give students the opportunity to demonstrate their skills providing explanations of reproductive diagnostic and screening tests. The content assessed includes all of the material covered in weeks 1 to 8. This task will be completed at the same time as 96107 Assessment Task 2.

Objective(s):

This task is aligned with the following subject learning objectives:

031, 032, 034, 035, 052, 054, 056 and 060

This task is aligned with the following course learning outcomes:

1.1, 3.1, 5.1 and 5.2

Type: Demonstration
Groupwork: Individual
Weight: 30%
Length:

Part A: 10 minute recording

Part B: Students will watch their recording and complete a structured reflection using template provided (maximum 300 words)

Criteria:

Students will be assessed on:

Their ability to provide clear, coherent explanations that facilitate client understanding of the key concepts. Students should demonstrate that they are actively assessing client understanding.

Their ability to reflect on their experience of combining teaching and counselling skills in the session

Detailed assessment criteria will be provided in Canvas.

Assessment task 3: Open book exam: response to case scenarios (Must Pass)

Intent:

This open book, take home exam will comprise of case studies with short and long answer questions. The written examination will assess whether the student has met the learning objectives of this subject. This is a summative assessment of the student’s level of knowledge and understanding of the content of the entire subject.

Objective(s):

This task is aligned with the following subject learning objectives:

032, 034, 035, 038, 050, 055, 058, 060, 061 and 064

This task is aligned with the following course learning outcomes:

1.1, 3.1, 5.1 and 5.2

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

2-3 case-based tasks - further details to be provided on Canvas

Criteria:

Students are assessed on their level of content-based knowledge, and on their ability to apply knowledge and problem solving to clinical cases.

Marks awarded for individual questions are stated in the exam.

Minimum requirements

In order to pass this Subject, a minimum grade of 50% must be achieved and students must submit all assessment tasks.

Additionally, there is a “must pass” assessment in this subject. Refer to assessment task for details.

Students are required to attend a minimum of 85% of classes.

Required texts

Coursework Assessments Policy

Coursework Assessments Procedures

Graduate School of Health Policy, Guidelines and Procedures (login required)

Additional required readings will be provided via Canvas