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.
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.
Variant identification assignment (20%), ethical and clinical issues essay (30%); exam (50%)
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.
Knowledge and skills gained in GENC5002
Completion of all Stage 1 units of study