This unit addresses the concept of population genetics and epidemiology and their implications for genetic counselling including gene/allele frequencies, Hardy-Weinberg distribution, impact of consanguinity, founder effects and heterozygote advantage as well as the models, algorithms and software uded in practice. Practical training is provided in risk assessment and probability of outcomes using Bayesian risk calculations that are important in genetic counselling for families with chromosomal anomalies, Mendelian and mitochondrial conditions and polygenic disorders and the application of the algorithms used in cancer genetics.
6 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 3 x 1.5h Problem Based Learning (PBL) sessions- SMS-Northern, Kolling Institute, Royal North Shore Hospital, St Leonards.
Risk assessment quiz exercises (10 questions) from Chapters 10, 12 and 14, Read and Donnai (60%, 10%, 30% respectively)
Read A, Donnai D. (2015) New Clinical Genetics. 3rd Edition, Scion Publishing; Nussbaum R, McInnes R and Willard H. Thompson and Thompson Genetic in Medicine. 8th Edition 2016 Elsevier ISBN 978 1 437706 96 3.
Knowledge and skills gained in GENC5002 and GENC5001