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Unit of study_

Genetic Counselling: Practice and Genomics - GENC5009

Year - 2018

This unit aims to further develop understanding of the complex underpinning of 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 for their relevance to genetic counselling will be provided. The unit also examines clinical and ethical 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 of genomic technologies including array technologies, whole genome scans and exome sequencing. Students will also develop the skills to interpret pathogenicity of variants generated by these technologies to clients.

Classes
14 x 1.5h lectures/tutorials and 1 x 3hr workshops. At SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards and The Garvan Institute.

Assessment
Variant identification assignment (20%), ethical and clinical issues essay (30%); exam (50%)

Textbooks
Read A, Donnai D. (2015) New Clinical Genetics. 3rd Edition, Scion Publishing ISBN 978 1 907904 67 7; Nussbaum R, McInnes R and Willard H. Thompson and Thompson Genetic in Medicine. 8th Edition 2016 Elsevier ISBN 978 1 437706 96 3; R Trent Molecular Medicine: Genomics to Personalized Healthcare 2012 Academic Press; PHG Foundation (2011) Next Steps in the Sequence the implications of whole genome sequencing for health in the UK, http://www.phgfoundation.org.

Assumed knowledge
Knowledge and skills gained in GENC5002

Pre-requisites

Completion of all Stage 1 units of study

Details

Faculty: Medicine and Health

Semester 1

05 Mar 2018

Department/School: Genetic Medicine
Study Mode: Normal (lecture/lab/tutorial) day
Census Date: 31 Mar 2018
Unit of study level: Postgraduate
Credit points: 6.0
EFTSL: 0.125
Available for study abroad and exchange: No
Faculty/department permission required? No
Location
Camperdown
More details
Unit of Study coordinator: Associate Professor Kristine Barlow-Stewart, Sydney Medical School
HECS Band: 3
Courses that offer this unit

Non-award/non-degree study If you wish to undertake one or more units of study (subjects) for your own interest but not towards a degree, you may enrol in single units as a non-award student. Cross-institutional study If you are from another Australian tertiary institution you may be permitted to undertake cross-institutional study in one or more units of study at the University of Sydney.

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