96103 Medical Genetics and Genomics in Practice
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Subject handbook information prior to 2025 is available in the Archives.
Credit points: 6 cp
Result type: Grade and marks
Requisite(s): 96104c Communication and Counselling AND 96105c Clinical and Community Placement 1 AND 96102c Research Methods in Genetic Counselling
The lower case 'c' after the subject code indicates that the subject is a corequisite. See definitions for details.
There are course requisites for this subject. See access conditions.
Description
Medical literacy and an ability to communicate complex genetic and genomic information to individuals and families is a core skill for genetic counsellors. Students review core genetic concepts including genes and DNA, population genetics, Mendelian and non-Mendelian inheritance, genomics and the principles of variant interpretation. Human reproduction, embryology, teratology and dysmorphology are discussed. Students use case studies to learn about disease processes, anatomy, screening and diagnostic tests in order to facilitate their understanding of medical assessment processes used in genetic counselling. Students are introduced to principles of biomedical ethics and the contexts in which genetic services are delivered are explored. This subject forms part of the preparation for clinical placement.
Subject learning objectives (SLOs)
| 013. | Assess client understanding throughout genetic counselling in order to deliver person-centred care |
|---|---|
| 032. | Use relevant databases and the genetics/genomics literature to inform practice |
| 038. | Facilitate client understanding of inheritance patterns |
| 050. | Identify and articulate the role genes play in health and illness |
| 055. | Apply knowledge of variant curation to the genetic counselling process |
| 057. | Interpret pathology reports for use in genetic counselling risk assessment |
| 063. | Assess client understanding of relevant medical screening and diagnostic procedures to inform decision-making |
| 091. | Identify and articulate relevant ethical issues in clinical situations |
| 092. | Critically apply concepts of healthcare ethics in genetic counselling |
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 a critical awareness of cultural and societal diversity and disparity in health care into genetic counselling practice. (2.1)
- Demonstrate appropriate and effective relationships with people from diverse communities. (3.1)
- Use research skills to enhance genetic counselling practice through an ability to critically appraise literature and to respond to a variety of challenges that arise in genetic counselling practice. (4.1)
- 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
This is a foundation subject in the Master of Genetic Counselling. Through the use of case studies and real world scenarios students learn to apply core concepts and knowledge central to the practice of genetic counselling. Students develop health literacy in preparation for clinical placement. Concepts from this subject are further developed during second year subjects including Application of Genetics and Genomics and Genetics and Genomics in Society.
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 96105 Clinical and Community Placement 1.
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 Introduction to medical genetics and genomics (Professional skills week and week 1):
Module 2 Health Ethics (weeks 2, 3 and 4)
Module 3 Foundations of genetics (weeks 5 and 6)
- Modes of inheritance
- Human reproduction
- Natural history of genetic disease
Module 4 Introduction to genomics and variant curation (week 7)
Module 5 Preparing for clinical work (weeks 8, 9, and 10)
- Anatomy
- Physical and medical assessment
- Tumour biology
- Reading a pathology report
Module 6 Diagnostic and screening pathways (weeks 11 and 12)
Module 7 Genetic test technologies (week 13)
Module 8 Wrap up (week 14)
Assessment
Assessment task 1: Fortnightly online quiz (Must pass)
| 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: 032, 038, 050, 055, 057, 063, 091 and 092 This task is aligned with the following course learning outcomes: 1.1, 3.1, 4.1, 5.1 and 5.2 |
| Type: | Quiz/test |
| Groupwork: | Individual |
| Weight: | 10% |
| Length: | 10 questions per quiz, 1 hour time limit |
| Criteria: | This is a "must pass" assessment with a minimum 50% grade required. 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: Explanations of inheritance and written reflection (Must pass)
| Intent: | This assessment will give students the opportunity to demonstrate their skills providing explanations of modes of inheritance. The content assessed includes all of the material covered in weeks 1 to 10. |
|---|---|
| Objective(s): | This task is aligned with the following subject learning objectives: 013 and 038 This task is aligned with the following course learning outcomes: 1.1, 2.1, 3.1 and 5.1 |
| Type: | Demonstration |
| Groupwork: | Group, individually assessed |
| Weight: | 30% |
| Length: | Part 1: Role play recording of no more than 4 minutes Part 2: 600 words, no more than 3 references |
| Criteria: | This is a "must pass" assessment with a minimum 50% grade required Students will be assessed on:
Their ability to reflect on the development of core skills in genetic counselling |
Assessment task 3: Response to case scenarios (Must pass)
| Intent: | Health literacy and the ability to interpret health and medical information for individuals and families is a core skill for genetic counsellors. This assessment task gives students the opportunity to demonstrate early skills and knowledge in health literacy. |
|---|---|
| Objective(s): | This task is aligned with the following subject learning objectives: 038, 050, 057 and 063 This task is aligned with the following course learning outcomes: 1.1, 3.1, 4.1 and 5.1 |
| Type: | Case study |
| Groupwork: | Individual |
| Weight: | 20% |
| Length: | Short answer format |
| Criteria: | This is a "must pass" assessment with a minimum 50% grade required Students will be assessed on:
Detailed assessment criteria will be provided in Canvas |
Assessment task 4: Examination (open book) (Must pass)
| Intent: | The written examination will assess whether you have 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, 038, 050, 055, 057, 063, 091 and 092 This task is aligned with the following course learning outcomes: 1.1, 3.1, 4.1, 5.1 and 5.2 |
| Type: | Examination |
| Groupwork: | Individual |
| Weight: | 40% |
| Length: | 3 hours |
| Criteria: | This is a "must pass" assessment with a minimum 50% grade required. 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, students are required to attend a minimum of 85% of classes and submit all assessment tasks.
A minimum grade of 50% must be achieved for each assessment task.
Required texts
Coursework Assessments Procedures
Graduate School of Health Policy, Guidelines and Procedures (login required)
Additional required readings will be provided via Canvas