University of Sydney Handbooks - 2014 Archive

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Genetic Counselling

Unit of study descriptions for 2014

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%) Campus: Camperdown/Darlington Mode of delivery: Block Mode or On-line
This unit of study introduces students to human research ethics in its social context. It explores the philosophical underpinnings of the research endeavour including the justifications for engaging in research, research priorities and research integrity. The unit also reviews the history of research and the impact of research abuse on human participants. International and national guidelines for ethical research with humans will be covered and participants are encouraged to develop practical skills in relation to their own research.
Textbooks
Readings will be provided.
EDPK5003 Developing a Research Project

Credit points: 6 Teacher/Coordinator: Dr Rachel Wilson Session: Semester 1,Semester 2 Classes: 3x4.5 hr Saturday workshops, plus online lectures and activities Assessment: online exercises (40%) and class presentation (20%) and research proposal (40%) Campus: Camperdown/Darlington Mode of delivery: Distance Education/Intensive on Campus
This core unit is seen as the foundation unit in research methods and it provides an overview of the research process, with a focus on critical evaluation of research reports and the design of research projects. It covers a wide range of basic research techniques and introduces other research methods that are the focus of more in-depth study in other search methods units. Research design issues and various methods of data collection examined. Students explore the use of quantitative and qualitative approaches; various research strategies; observation, documents, questionnaires and assessments. The assessment in this unit is developed around students' own research interests and by the end of the unit students will have developed their own research proposal document.
GENC5001 Clinical Genetics

Credit points: 6 Teacher/Coordinator: Professor John Christodoulou, Sydney Medical School and Associate Professor Kristine Barlow-Stewart Session: Semester 1 Classes: 12 x 1.5h lectures integrated with 10 x 3/4h Problem Based Learning sessions (shared with GENC5002) SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards; 3 x 2h pathology lab visits - Children's Hospital Westmead. Assessment: : Family history intake and pedigree construction (25%), written assignment 1500wd (25%), 1.5hr exam (50%) Campus: Camperdown/Darlington 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.
Textbooks
Read A and Donnai D. New Clinical Genetics. 2nd Edition 2011
GENC5002 Applied Clinical Genetics

Credit points: 6 Teacher/Coordinator: Professor John Christodoulou, Sydney Medical School and Associate Professor Kristine Barlow-Stewart. Session: Semester 1 Classes: 12 x 1.5 h lectures integrated with 10 x 3/4 h Problem Based Learning sessions (shared with GENC5001) - SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards; 1 x 2h pathology lab visits - Children's Hospital Westmead. Assessment: Intake assessment (25%), written assignment 1500wd (25%), 1.5 hr exam (50%) Campus: Camperdown/Darlington 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 genetic 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 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, Sydney Medical School and John Conaghan, Senior Social worker, Hunter Genetics. Session: Semester 1 Classes: 3 x 1.5 h lectures/role plays/ preparation for placement including demonstration of the Kintrak patient management database used in NSW Genetic Services/reflective practice and a 2-day intensive theory and role plays. Assessment: Counselling theory 1250wd (25%), 1250 wd essay (25%), reflective exercise from community placement (25%), clinical placement assessment and log book (25%) Campus: Camperdown/Darlington 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 counseling 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 with students experiencing the role of counsellor, client and observer providing feedback on the demonstration of core counselling skills. 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
Geldard D, Geldard K. Basic Personal Counselling. A Training Manual for Counsellors. 7th Edition 2012
GENC5004 Clinical Practice 1

Credit points: 6 Teacher/Coordinator: Associate Professor Kristine Barlow-Stewart, Sydney Medical School Session: Semester 2 Classes: 16 x 1.5h lectures/ tutorials/ reflective practice; 1 day intensive counselling skills and including audio-taped role play; team presentation session. 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%) Campus: Camperdown/Darlington 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: Professor John Christodoulou, Sydney Medical School and Associate Professor Kristine Barlow-Stewart, Sydney Medical School Session: Semester 2 Classes: 6 x 1.5h lecture integrated with 3 x 1.5h PBL - SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards Assessment: Pedigree, risk analysis for cancer case study (100%) Campus: Camperdown/Darlington Mode of delivery: Normal (lecture/lab/tutorial) Day
This unit builds on the genetics science and clinical applications developed in GENC5001 and GENC 5002 by developing 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: 8 x 1.5h lectures/tutorials. SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards Assessment: 1500 word essay (50%), community placement report and reflection (50%) Campus: Camperdown/Darlington 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: 8 x 1.5h lectures/tutorials/reflective practice/videotape student counselling session Practical: 2 X 2 weeks full time clinic placement. SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards Prerequisites: successful completion of all Stage 1 units of study Assessment: Videotaped consultation analysis (30%); long case (20%); clinical placement assessment for each placement (2 x 25%) Campus: Camperdown/Darlington Mode of delivery: Clinical Experience
Clinical placement 2 will extend students' observational 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 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 or outreach genetic counselling service associated with NSW Health, including time in prenatal/paediatric and adult units. 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, Journal Clubs, hospital clinics, 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 & Genomics

Credit points: 6 Teacher/Coordinator: Associate Professor Kristine Barlow-Stewart, Sydney Medical School Session: Semester 1 Classes: 15 x 1.5h lectures/tutorials. SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards Prerequisites: successful completion of all Stage 1 units of study Assessment: Essay (50%); exam (50%) Campus: Camperdown/Darlington 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 (eg 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: 7 x 1.5h lectures/tutorials/reflective practice; SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards Prerequisites: successful 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%) Campus: Camperdown/Darlington 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: 9 x 1.5h lectures/tutorials. SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards Prerequisites: successful completion of all Stage 1 units of study Assessment: Production of education aid (50%), presentation and teaching skills (30%), professional development (20%). Campus: Camperdown/Darlington 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: SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards Prerequisites: EDPK5003 and (GENC5007 or GENC5017) Assessment: Mini assignment (40% ) and data analysis report (10%), literature review (40%) and formative (10%). Campus: Camperdown/Darlington 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 independent research including a comprehensive review of the literature and regular meetings with a supervisor. It is anticipated this semester will account for the majority of data collection according to the USyd HREC approved protocol.
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 Classes: Independent research with supervision; SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards and research project site Corequisites: BETH5208 Assessment: Mock ethics application (NEAF) draft (10%), mock NEAF application (60%), supervisor report ( 20%) and project management (10%). Campus: Camperdown/Darlington Mode of delivery: Supervision
In this unit of study, students will begin developing and preparing their research project. Students will work with their supervisors and academic staff to ensure that the research is not only viable, but fulfils the requirements of University of Sydney Human Research Ethics Committee and is conducted in the University of Sydney's culture of responsible research. Research study tools will also be developed. Students will complete a full human research ethics committee application (NEAF) as part of this course.
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; SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards and research project site Prerequisites: EDPK5003 and (GENC5007 or GENC5017) Assessment: Abstract (10%), Poster (20%), three minute talk (20%), supervisor report (50%). Campus: Camperdown/Darlington 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 the presentation of a conference abstract, and regular meetings with a research supervisor(s). 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; SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards and research project site Prerequisites: GENC5018 and GENC5016 Assessment: 3-4,000 word research paper (50%), project management (10%), capstone (20%), supervisor report (20%). Campus: Camperdown/Darlington Mode of delivery: Supervision
This unit is the culmination of the supervised research project initiated at the beginning of the course. The unit involves independent research and regular meetings with a supervisor. The Research project will culminate in an original paper for publication (word length likely to be 3-4,000-word, depending on journal limitations). Successful completion of the project may also provide students with the research experience required for the pursuit of a higher degree. The unit includes a Capstone experience consisting of a presentation of the research findings and their implications for genetic counselling practice.
Textbooks
Peat, Jennifer; Elliott, Elizabeth; Baur, Louise; Keena, Victoria Scientific Writing: Easy When You Know How. London, BMJ Books, 2002.
PUBH5422 Health and Risk Communication

Credit points: 6 Teacher/Coordinator: Associate Professor Julie Leask, Professor Phyllis Butow, Dr Claire Hooker Session: Semester 2 Classes: Block / intensive - 5 days (1 x 3 days; 1 x 2 days) Online activities Assessment: Assignment 1 x 3000 word (55%), Assignment 2 x 2000 words (35%), Online activities (10%) Campus: Camperdown/Darlington Mode of delivery: Distance Education/Intensive on Campus
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 using 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