Applied Clinical Genetics (GENC5002)


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.

Our courses that offer this unit of study

Further unit of study information


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.


Intake assessment (25%), written assignment 1500wd (25%), 1.5 hr exam (50%)


Read A, Donnai D. (2011) New Clinical Genetics. 2nd Edition Scion Publishing
Harper, P.S. (2010) Practical Genetic Counselling (7th revised Edition), Butterworth and Heinemann
Peat, Jennifer; Elliott, Elizabeth; Baur, Louise; Keena, Victoria Scientific Writing : Easy When You Know How. London, BMJ Books, 2002

Faculty/department permission required?


Study this unit outside a degree

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 underake cross-institutional study in one or more units of study at the University of Sydney.