Personal genomic testing or online DNA testing has challenged the traditional model of clinical genetic testing. This type of testing is advertised directly to the consumer and is marketed globally for a range of health and recreational (predominantly ancestry) purposes, posing a number of ethical concerns. While research has focused on its use by early adopters, mostly in the USA, little is known about Australians’ expectations and use of this type of testing. The Genioz study (Genomics: National Insights of Australians) was funded through the Australian Research Council, and collected Australians’ perspectives on personal genomic testing. This presentation will give an overview of the findings. Outcomes from this study are informing educational strategies and policies in Australia to support potential consumers, and healthcare professionals, to understand and make meaningful and well-considered decisions about the benefits, harms, and implications of personal genomic tests.
Sylvia Metcalfe is Honorary Professor of Medical Genetics in the Department of Paediatrics at the University of Melbourne and, until her recent retirement, Group Leader of Genetics Education and Health Research at the Murdoch Childrens Research Institute. She has a background in laboratory-based biomedical research from the UK, New York and then Melbourne. For the last 20 years her research interests comprise the understanding of genetics by the community and health professionals, especially in terms of the societal and personal implications of genetic technologies, genetic screening and testing, and the impact of genetic diagnosis. She has authored more than 120 peer-reviewed publications, books and book chapters, and has produced a wide range of educational material, including multimedia, print and online resources. She taught human genetics to a range of undergraduate and postgraduate students at The University of Melbourne, as well as continuing professional development nationally and internationally. She is the principle investigator on the Genioz study and co-lead of Program 4 (Workforce Education and Training) of the Australian Genomics Health Alliance.