Ainsley Newson^1
1Sydney Health Ethics, Sydney School of Public Health, Faculty of Medicine and Health, University of Sydney, Sydney, Australia

Genetic and genomic testing are widely accepted to give rise to ethical issues. Yet what is an ethical issue? And what role should ethical considerations play in determining how and when genetic and genomic testing are offered and used? In this presentation, I will consider these questions. I will begin by describing the field of bioethics and the types of questions that are asked and answered within it, and with what methods. Using selected case studies, I will then consider some current pressing issues arising from genetic and genomic testing, driven by key developments such as advances in sequencing techniques, mainstreaming and uses outside clinical care. I will conclude with some consideration as to where ethical analysis can be used in the genetic and genomic testing process, and claim that ethical analysis remains inherent to appropriate use of genetic and genomic testing, even when its outcomes can challenge us, make us uncomfortable. 

Bilkey, G. A., Burns, B. L., Coles, E. P., Bowman, F. L., Beilby, J. P., Pachter, N. S., Baynam, G., J. S. Dawkins, H., Nowak, K. J., & Weeramanthri, T. S. (2019). Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges. Frontiers in Public Health, 7. https://doi.org/10.3389/fpubh.2019.00040

Greely, H. T. (2015). Genomics, Ethical Issues in. In International Encyclopedia of the Social & Behavioral Sciences (pp. 32–41). Elsevier. https://doi.org/10.1016/B978-0-08-097086-8.82011-5

Horton, R., & Lucassen, A. (2019). Consent and Autonomy in the Genomics Era. Current Genetic Medicine Reports, 7(2), 85–91. https://doi.org/10.1007/s40142-019-00164-9

Louise Lyons^1
1The Kids Research Institute Australia

Genetic and Genomic medicine and research is advancing at a rapid pace in Australia and globally, however for many under-serviced populations, their under-representation in the human genome and a lack of engagement has meant they are at risk of falling further behind, leading to increased health gaps. In Australia, Aboriginal and Torres Strait Islander peoples have some of the worst health outcomes of any population due to health conditions such as CVD, cancer and diabetes. Precision medicine offers the promise of faster, more accurate diagnosis and  targeted treatments, however ensuring leadership and representation by Indigenous peoples is the challenge that requires an all of health system approach and commitment. This presentation will explore the role of Indigenous governance and leadership in genomic medicine and research as a means of improving health outcomes for Aboriginal and Torres Strait Islander Australians.

Ilias Goranitis^1
1The University of Melbourne

Genomic medicine is changing the diagnostic, clinical and therapeutic paradigm for multiple conditions. To enable the significant opportunities of genomic medicine, governments globally are making large investments, with the Global Alliance for Genomics and Health predicting that genomic data for over 330 million patients worldwide will be generated by 2030. These investments in genomic medicine, however, could fail to deliver their full benefit if they are not evaluated appropriately and integrated sustainably into the health system. A significant lack of quantitative evidence for how genomics will benefit the lives and livelihoods of Australians was identified, highlighting a critical need for health and economic data to demonstrate the value genomics can deliver to the health system and to guide national implementation approaches. Over the past 7 years, the development and application of innovative health economic methods to measure the value and value for money of genomics has been a key research priority area for Australian Genomics. This presentation will reflect upon a series of novel: a) preference-elicitation studies with over 3,500 members of the Australian public and study participants undertaken to quantify the value of the diagnostic, clinical and personal outcomes of genomics; b) economic evaluations to assess the relative cost-effectiveness and cost-benefit of genomics in contexts, such as mitochondrial disorders, paediatric critical care, and genetic kidney disease. It will provide insights into how health economics have been used to inform healthcare decision making and contribute to the equitable and sustainable translation of genomics and the design of high value genetic services.