University of Sydney Handbooks - 2016 Archive

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Genetic Counselling

 

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Unit of study descriptions

BETH5208 Introduction to Human Research Ethics

Credit points: 2 Teacher/Coordinator: Dr Ainsley Newson Session: Semester 2a Classes: Block mode (1.5 days) and online Prohibitions: BETH5202 Assessment: 1x1500wd essay (80%); 1x 300wd task (10%); participation in class/online (10%) Mode of delivery: Block mode
This unit of study introduces students to human research ethics in its wider context. It explores the ethical underpinnings of the research endeavour including the justifications for engaging in research and research integrity. The unit also reviews the history of research and the impact of research abuse on human participants.
Textbooks
All readings are accessed online via elearning.
GENC5001 Clinical Genetics

Credit points: 6 Teacher/Coordinator: Associate Professor Kristine Barlow-Stewart Session: Semester 1 Classes: 12x1.5h lectures by faculty or guest lecturers with a case study from the Text Book Read A and Donnai D as the paradigm for the week (for both GENC5001 and GENC5002) integrated with 9x3/4h Problem Based Learning (PBL) sessions (shared with GENC5002) SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards; 3x2h sessions at the Children's Hospital Westmead genetics laboratory services (cytogenetic, molecular cytogenetic, molecular, biochemical)-two sessions each in weeks 3 and 7. Assessment: : Family history intake and pedigree construction (25%), written assignment (Essay LHON) 1500wd (25%), 1.5hr exam (50%) Mode of delivery: Normal (lecture/lab/tutorial) day
This unit of study focuses on the scientific basis of human genetic inheritance and of human genetic disorders and provides a broad overview of the genetics of common single-gene human genetic disorders and the genomics of common multi-gene human genetic disorders. A review of Mendelian inheritance, principles of biochemical genetics, current knowledge of the molecular basis of human inheritance and risk assessment will be presented using case examples. More complex patterns of inheritance including mitochondrial and uniparental disomy as well as epigenetic mechanisms will be explored. The unit will include lab based field work covering genetic testing used in diagnostic and screening contexts including molecular, cytogenetics and molecular cytogenetics. Sources for a priori and empiric estimates of risk and Bayesian approaches to final risk perception will be taught.
Textbooks
Peat, Jennifer; Elliott, Elizabeth; Baur, Louise; Keena, Victoria Scientific Writing : Easy When You Know How. London, BMJ Books, 2002.
GENC5002 Applied Clinical Genetics

Credit points: 6 Teacher/Coordinator: Associate Professor Kristine Barlow-Stewart. Session: Semester 1 Classes: 10x1.5h lectures by faculty or guest lecturers with a case study from the Text Book Read A. and Donnai D. as the paradigm for the week (for both GENC5001 and GENC5002) integrated with 9x3/4h Problem Based Learning (PBL) sessions (shared with GENC5001) - SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards; 1x2h sessions at the Westmead Children's Hospital genetics laboratory services (cytogenetic, molecular cytogenetic, molecular, biochemical)- week 7. Assessment: Intake assessment (25%), written assignment 1500wd (25%), 1.5 hr exam (50%) Mode of delivery: Normal (lecture/lab/tutorial) day
Applied clinical genetics will be co-presented and integrated with the Unit of Study: Clinical genetics. Students will be introduced to the management of clinical and genomic information and databases. Molecular genetic theory will underpin the understanding of the basis of genetic, syndromes of paediatric and adult onset, neurogenetics and connective tissue genetics. Application to screening and diagnosis of genetic conditions in the prenatal, paediatric and adult contexts, and current treatment therapies and preventive strategies will be presented. Public Health genetics, genetic epidemiology and population screening will be studied as important aspects of community genetics. This unit also provides practical training in risk assessment and probability of outcomes that are important in genetic counselling for families with chromosomal rearrangements including cryptic anomalies, Mendelian disorders and mitochondrial conditions and polygenic disorders. Sources for a priori and empiric estimates of risk and Bayesian approaches to final risk perception will be taught.
Textbooks
Read A, Donnai D. (2011) New Clinical Genetics. 2nd Edition Scion Publishing
GENC5003 Counselling Theory and Skills

Credit points: 6 Teacher/Coordinator: Associate Professor Kristine Barlow-Stewart Session: Semester 1 Classes: 7x1.5h lectures/tutorials/reflective practice by faculty/guest lecturers at Kolling Institutre, Royal North Shore Hospital and a 2-day intensive counselling skills workshop with Mr John Conaghan, Sr Social Worker, Hunter Genetics and Clinical Lecture, SMS. Assessment: Counselling theory 1250wd (25%), 1250 wd essay (25%), reflective exercise from community placement (25%), clinical placement assessment and log book (25%) Practical field work: 1 day observation in a metropolitan genetics clinic, 1 week full time clinic placement in a genetics service associated with NSW Health, 40 hours in community genetics eg support groups for genetic conditions; high school genetic carrier testing programs. Mode of delivery: Normal (lecture/lab/tutorial) day
The main objective of this course is to facilitate students' development of their ability and confidence to use basic counselling and interview skills. The unit provides students with an overview of counselling theory and models and is an introduction to the development of counselling skills underpinned by these theories and models in the context of genetic counselling. Client-centred counselling and Rogerian techniques will be demonstrated and practiced under supervision during roleplays. Strategies for the communication of risk will be developed and available tools to assist will be reviewed. During the clinical placement, students will be allocated a supervisor(s), and this placement will be largely observational of Genetic Counsellors in session. Students will start to develop their counselling skills according to competencies developed by the Human Genetics Society of Australasia. The community experience aims to provide students with an understanding of the lived experience of a genetic condition.
Textbooks
Crago H and Gardner P (2012)A safe place to change: skills and capacities for counselling and therapy. IP Communications Melbourne
GENC5004 Clinical Practice 1

Credit points: 6 Teacher/Coordinator: Associate Professor Kristine Barlow-Stewart, Sydney Medical School Session: Semester 2 Classes: 11 x 1.5h lectures/ tutorials/ reflective practice by faculty/guest lecturers; 1 day intensive with audio-taped role play. SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards. Assessment: Audiotaped consultation analysis (30%); team presentation (20%); clinical placement assessment for each placement (2 x 25%) Practical field work: 2 X 2 week full time clinic placement with a metropolitan or outreach genetic counselling service associated with NSW Health - cancer, prenatal/paediatric and adult units are offered. Mode of delivery: Clinical experience
Students will develop an understanding of the range of expressions of grief and loss generated by the lived experience with a genetic condition or genetic testing results and evidence-based strategies for supporting clients underpinned by an evidence base. The counsellor-self will be examined and the ability to recognise and address transference and counter-transference issues will be developed. Team presentations will address the topics of theories of teamwork and conflict resolution, family systems, attachment and working with children to inform practice and working in multidisciplinary teams. Clinical experiences will expose students to the natural history and management of common genetic conditions, and to the relevant associated psychosocial issues, as well as provide opportunities to observe and further develop a range of genetic counselling skills consistent with the core practice-based competencies for this profession. During the clinical placement, students will be allocated a supervisor(s), observe and participate Genetic Counsellors in session, contribute to the everyday running of a service and will begin to consider the implications of their role in the future in terms of occupying a position in a multidisciplinary team and interfacing with clients.
Textbooks
Geldard, D., and Geldard, K. (2012). Basic Personal Counselling - A training manual for counsellors (7th ed.). Frenchs Forest: Pearson Education. ISBN - 9781442502192
GENC5005 Diagnostic and Risk Assessment Analysis

Credit points: 3 Teacher/Coordinator: Associate Professor Kristine Barlow-Stewart, Sydney Medical School Session: Semester 2 Classes: 5 x 1.5h lectures by faculty/guest lecturers with a case study form the text book Read A. and Donnai D. New Clinical Genetics. 2nd Ed. 2011 as the paradigm for the week, integrated with 2 x 3/4 h Problem Based Learning (PBL) sessions- SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards. Assessment: Pedigree, risk analysis for cancer case study (100%) Mode of delivery: Normal (lecture/lab/tutorial) day
This unit builds on the knowledge and skills developed in GENC 5001 AND GENC 5002. It aims to develop an understanding of the biological and molecular basis of cancer syndromes as an example of complex genetic conditions. Practical training in tools used for risk assessment and probability of outcomes that are important in cancer genetic counselling is provided.
Textbooks
Read A, Donnai D. (2011) New Clinical Genetics. 2nd Edition Scion Publishing
GENC5006 Ethical, Legal and Social Issues

Credit points: 3 Teacher/Coordinator: Associate Professor Kristine Barlow-Stewart, Sydney Medical School Session: Semester 2 Classes: 7 x 1.5h lectures/tutorials/reflective practice by faculty/guest lecturers. SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards. Assessment: 1500 word essay (50%), community placement report and reflection (50%) Mode of delivery: Normal (lecture/lab/tutorial) day
The Unit begins with an examination of ethical principles and their application in health and genetics in particular in both research and clinical settings. Students will be provided with an overview of the current social, cultural, legal and ethical issues generated by the diagnosis or identification of risk for a genetic condition including privacy at the family and wider community levels, ownership of genetic information, informed consent, genetic testing of children, professionalism and paternalism, access and equity to services, gene patenting, national and jurisdictional laws, regulations and guidelines governing genetics services delivery and practice and research ethics. The evidence base for genetic discrimination will be examined with a focus on the life insurance industry and the polices and implications for genetic counselling practice and research participation. Additionally, the associated psychosocial impact of new genetics technologies at both the individual and family levels will be explored, using preimplantation genetic diagnosis as the paradigm. At the societal level, the students will explore the issues associated with the developments and establishment of biobanks and genetic registers, the storage of genetic information and its access, the implementation of public health genetics programs and non-medical applications of genetic technologies including kinship testing and sport.
Textbooks
Australian Law Reform Commission (2003) Essentially Yours. The Protection of Human Genetic Information. Report 96. http://www.alrc.gov.au
GENC5008 Clinical Practice 2

Credit points: 9 Teacher/Coordinator: Associate Professor Kristine Barlow-Stewart, Sydney Medical School Session: Semester 1 Classes: 7 x 1.5h lectures/tutorials/reflective practice at SMS Northern, Kolling Institute, Royal north Shore Hospital, St Leonards. Prerequisites: Completion of all Stage 1 units of study Assessment: 2x Clinical placement Report (2 x 15%) and log book (15%), long case (30%) and exam (10%). Practical field work: 2 X 2weeks full time clinic placement with a metropolitan or outreach genetic counselling service associated with NSW Health Cancer, prenatal/paediatric and adult units-or interstate or international services. Mode of delivery: Clinical experience
Clinical practice 2 will extend students' observational experiences of genetic counselling of individuals and families affected by a broad range of genetic disorders. The focus of this unit is enhancing reflective practice skills. Clinical experiences will expose students to the natural history, testing and management of common genetic conditions, and to the associated psychosocial issues, as well as provide opportunities to observe, practice and further develop a range of genetic counselling skills consistent with the core practice-based competencies for this profession. It aims to further develop the student's appreciation of the counsellor-client relationship, the components of the genetic counselling interaction, and various models of genetic counselling practice. The impact of genetic disorders on families, relevant medical, psychosocial, cultural, and religious issues will be addressed. The aim is for students to develop intermediate level professional clinical competencies as required by the Human Genetics Society of Australasia Board of Censors for Genetic Counselling. The unit includes clinic placement with a metropolitan, regional or rural outreach genetic counselling service associated with NSW Health, including time in prenatal/paediatric and adult units- or interstate or international genetics services. Students will be allocated a supervisor(s), observe Genetic Counsellors in session, participate in the everyday running of a service including use of Kintrak database for recording family history, attend relevant meetings, and other associated activities. Following the placement, students will be assisted in the development of a long case study report reflecting on their practice, skills gained and challenges faced.
Textbooks
Geldard, D., and Geldard, K. (2012). Basic Personal Counselling - A training manual for counsellors (7th ed.). Frenchs Forest: Pearson Education. ISBN - 9781442502192
GENC5009 Genetic Counselling: Practice and Genomics

Credit points: 6 Teacher/Coordinator: Associate Professor Kristine Barlow-Stewart, Sydney Medical School Session: Semester 1 Classes: 17 x 1.5h lectures/tutorials. SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards Prerequisites: Completion of all Stage 1 units of study Assessment: Essay (50%); exam (50%) Mode of delivery: Normal (lecture/lab/tutorial) day
This unit aims to further develop understanding of the complex underpinning of genetics science and the broader genomics science and its current and future applications. An introduction to the next generation genetic technologies, laboratory issues and web data sources and critical appraisal of studies of Association and Relative Risk for their relevance to genetic counselling will be provided. The unit also examines clinical applications of genetic and genomic technologies in a range of contexts from the prenatal, paediatric and adult (e.g. cardiology) settings. The current and future implications and potential for treatment and management arising from these developments will also be presented. The students will explore how their role may develop as genetics moves into mainstream medicine and the challenges that may be faced. Finally, students will explore challenges likely to be encountered due to the rapid developments and applications including array technologies, whole genome scans and exome sequencing.
Textbooks
Andrew Read D. Donnai. New Clinical Genetics. Second edition 2010.
GENC5011 Clinical Practice 3

Credit points: 9 Teacher/Coordinator: Associate Professor Kristine Barlow-Stewart, Sydney Medical School Session: Semester 2 Classes: 5 x 1.5h lectures/tutorials/reflective practice/videotape student counselling session; SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards. Prerequisites: Completion of all Stage 1 units of study Assessment: Videotaped consultation analysis (30%); long case study (30%); placement assessment and, progressive activities report and supervisor report (40%) Practical field work: 5 weeks clinic placement including one week for writing up a long case study and completion of log book. Mode of delivery: Clinical experience
The further development and evaluation of values, attitudes and skills in genetic counselling will be presented, with an emphasis on patient advocacy, crisis counselling, cross-cultural counselling and disability awareness/sensitivity training. Students will have some choice according to interest regarding the 5 week full time Clinical placement with metropolitan or outreach genetic counselling services associated with NSW Health. Students will participate in the everyday running of a service. Clinical practice 3 will extend students' experiences of genetic counselling of individuals and families affected by a broad range of genetic disorders. Clinical experiences will expose students to the natural history, testing and management of common genetic conditions, and to the associated psychosocial issues, as well as provide opportunities to observe, practice and further develop knowledge and skills. The aim is for students to develop intermediate level professional clinical competencies as required by the Human Genetics Society of Australasia Board of Censors for Genetic Counselling. Following the placement, students will be assisted in the development of a long case study report reflecting on their practice, skills gained and challenges faced.
Textbooks
Geldard, D., and Geldard, K. (2012). Basic Personal Counselling - A training manual for counsellors (7th ed.). Frenchs Forest: Pearson Education. ISBN - 9781442502192
GENC5012 Contemporary Issues Genetic Counselling

Credit points: 3 Teacher/Coordinator: Associate Professor Kristine Barlow-Stewart, Sydney Medical School Session: Semester 2 Classes: 12 x 1.5h lectures/tutorials. SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards Prerequisites: Completion of all Stage 1 units of study Assessment: Assignment(50%), presentation (30%), logbook (20%) Mode of delivery: Normal (lecture/lab/tutorial) day
This unit will allow students to draw on previous course content as they examine and debate contemporary issues in genetic medicine, such as Direct to Consumer testing, mental health and genetics, immunogenetics, pharmacogenomics, genetics education, genetic counselling professional issues and other issues as they arise. The course also aims to improve the student's ability to identify and address effectively the genetics educational needs of clients, community and lay groups, students, and health professionals and the strategies necessary for the development of educational materials and tools designed to assist in decision making and informed choice.
Textbooks
Rankin S and Duffy K(1998) Patient education: Issues, principles and guildelines. JB Lippincott Co Philadelphia
GENC5016 Research Data Analysis

Credit points: 6 Teacher/Coordinator: Dr Jane Fleming, Research Coordinator and Clinical Lecturer, Sydney Medical School Session: Semester 1 Classes: Intensive 1 week research data analysis and self-directed learning and independent research. Prerequisites: EDPK5003 and (GENC5007 or GENC5017) Assessment: Mini assignment (40% ) and data analysis report (10%), literature review (40%) and formative (10%). Mode of delivery: Normal (lecture/lab/tutorial) day
This unit is a continuation of the supervised research project initiated at the beginning of the course and to be concluded in the final semester. The unit involves analysis of data provided to the student to be analysed using quantitative or qualitative data analysis methodology. The unit will enable students performing quantitative data analysis to experience qualitative data analysis techniques and vice versa. A statistician and experts in qualitative data analysis will be available to provide advice.
Textbooks
Neumann W.L. (2012): Research Methods: Qualitative and Quantitative Approaches (7th Edition) Pearson.
GENC5017 Research Project Implementation I

Credit points: 4 Teacher/Coordinator: Dr Jane Fleming, Research Coordinator and Clinical Lecturer, Sydney Medical School Session: Semester 2 Corequisites: BETH5208 Assessment: Mock ethics application (NEAF) draft (10%), mock NEAF ethics presentation (30%), mock NEAF ethics submission (30%), supervisor report (20%) and project management (10%). Mode of delivery: Supervision
This unit focuses on further development of the research project and preparation of a submission for ethical approval. Students will work with their supervisors and academic staff to ensure their research is viable and fulfils the requirements of the University of Sydney Human Research Ethics Committee. If conducted at another site, ethics approval will be sought from the HREC of this institution/organisation, with site-specific approval and ratification/recognition through the University of Sydney. Research study tools will also be developed. Student research projects will comply with the NHMRC National Statement on Ethical Conduct in Human Research (2007). The research coordinator and advisory committee will be available to advise students on the correct process for ethics approval. The National Ethics Application Form will be accessed via IRMA (Sydney University Ethics HREC) or NSW Health (External Ethics HREC). As an example, for a research project conducted through the Hereditary Cancer Clinic at the Prince of Wales Hospital (POWH) a National Ethics Application form (NEAF) will be submitted via the NSW web address, plus a site specific application for the South East Sydney Local Health District (SESLHD), with ratification through the University of Sydney.
Textbooks
NH&MRC National Statement on Ethical Conduct in Human Research, Commonwealth of Australia, 2007.
GENC5018 Research Project Implementation II

Credit points: 3 Teacher/Coordinator: Dr Jane Fleming, Research Coordinator and Clinical Lecturer, Sydney Medical School Session: Semester 1 Classes: Supervised research project; self-directed learning and independent research. Prerequisites: EDPK5003 and (GENC5007 or GENC5017) Assessment: Abstract (10%), Poster (20%), three minute talk (20%), supervisor report (50%). Mode of delivery: Supervision
This unit is a continuation of the supervised research project initiated at the beginning of the course and to be concluded in the final semester. The unit involves independent research including writing of a conference abstract, three minute talk and poster and regular meetings with a supervisor/ advisory team. It is anticipated this semester will account for the majority of data collection according to the University of Sydney HREC approved protocol.
Textbooks
Peat, Jennifer; Elliott, Elizabeth; Baur, Louise; Keena, Victoria Scientific Writing: Easy When You Know How. London, BMJ Books, 2002.
GENC5019 Research Dissertation and Capstone

Credit points: 12 Teacher/Coordinator: Dr Jane Fleming, Research Coordinator and Clinical Lecturer, Sydney Medical School Session: Semester 2 Classes: Supervised research project writing up, self-directed learning and independent research. Prerequisites: GENC5018 and GENC5016 Assessment: 3-4,000 word research paper (50%), project management draft paper (10%), capstone (20%), supervisor report (20%). Mode of delivery: Supervision
This unit is a continuation of the supervised research project initiated at the beginning of the course. The unit involves independent research and regular meetings (fortnightly) with a supervisor (s). The research project will culminate in an original journal article. The unit includes a capstone experience consisting of presentation of the research findings and their implication for genetic counselling practice.
Textbooks
Peat, Jennifer; Elliott, Elizabeth; Baur, Louise; Keena, Victoria Scientific Writing: Easy When You Know How. London, BMJ Books, 2002.
GENC5020 Introduction to Research

Credit points: 6 Teacher/Coordinator: Associate Professor Kristine Barlow-Stewart Session: Semester 1 Classes: 10 x 1.5 hr lec; 2 x 2 hr lec Assessment: 2 x 500 wd assessments 10%; 3,000 wd literature review 50%; Development of a research tool 20%; Project management 10%; Research supervisors report 10% Mode of delivery: Normal (lecture/lab/tutorial) day
This unit of study is an introduction to genetic counselling research, to prepare students as they embark on their supervised student research project. Through lectures, workshops and independent learning, students will study the basics of research design, common strategies and methodologies, and the inherent limitations associated with each approach. They will also gain the experience to critically evaluate and review the literature relevant to their research project, to identify gap(s), and formulate a research protocol. This unit will also incorporate a project management component as students engage with an advisory team of research supervisors. It is anticipated this course will inform development of a mock NEAF ethics application for ethics review according to the USYD HREC approved protocol or other relevant HREC if required. It will also prepare students for future coursework on data collection, data analysis, and science writing as students work towards preparation of a manuscript and a capstone presentation in year 2.
Textbooks
Genetic Counselling Research: A Practical Guide (2014): Ian M Macfarlane, Patricia McCarthy Veach and Bonnie S LeRoy OXFORD.
PUBH5422 Health and Risk Communication

Credit points: 6 Teacher/Coordinator: Dr Claire Hooker, Associate Professor Julie Leask, Professor Phyllis Butow Session: Semester 2 Classes: Block/intensive - 5 days Monday - Friday Assessment: Assignment 1 x 3000 word (55%), Assignment 1 x 2000 words (35%), Pre-block online activities (10%) Mode of delivery: Block mode
In this unit, students will develop a critical awareness of the determinants of effective communication, particularly in relation to health risks to the individual and to society. The first half covers individual health risk communication in clinical settings, including: theories of health communication, patient centred care and shared decision making; evidence-based communication skills; research paradigms including interaction analysis; cross-cultural communication in health care; discussing prognosis and informed consent. The second half explores risk communication for public health. We teach theories of risk perception and communication with particular application to public health incident responses. We give practical guides to media messages, risk message framing, public engagement, traditional and social media, and the ethical aspects of public communication. The unit offers students the opportunity to learn from outstanding guest lecturers who work in these areas and interactive opportunities for students to try their skills in risk communication and decision making.
Textbooks
Readings will be provided