Genomics in Society
Our research promotes understanding of genetics and genomics, and informs evidence-based practice, among families, health professionals and the community.
As genomic technologies continue to expand, the impact this will have on individuals, families, health professionals and the wider community has educational, ethical and broader social implications.
We explore and evaluate the provision and impact of genomic technologies and genetic services, as well as contribute to the development of educational programs.
Our group combines experience in genetics education, ethics and genetic counselling with mixed methods approaches, and a focus on qualitative research. This unique blend of expertise has led to the group becoming one of the world leaders in the research of the clinical and social implications of genomics.
Our projects
Prenatal testing: a longitudinal study: the PeTALS project
Prenatal testing is a routine part of pregnancy. If a woman is diagnosed with a foetal abnormality such as Down syndrome, they may be offered information and support so they can decide whether to continue with the pregnancy. We know little about how women in Australia experience this process, so the Australian Research Council (ARC) funded study aims to investigate women’s needs and identify the support currently available. Data collection includes in-depth interviews and measures of anxiety, depression and relationship bonds at six weeks, six to nine months and two years post-diagnosis. Initial results found many women reported their partners were often quite unsupported. Partners are now included in the study. Recruitment and data analysis is ongoing and the study findings will develop a robust counselling intervention that can provide support for all couples who receive a prenatal diagnosis.
Australians’ expectations of personal genomics: the GeniOz project
Personal genomics refers to the information taken from analysing a person’s genome (their entire genetic make-up) and how we can use that information to understand and promote the health and wellbeing of an individual. Three main areas of interest relate to:
- the Australian public’s perceptions and expectations of personal genomics
- whether population screening in early childhood should be expanded to include more genomic tests, and how that might occur
- advances in genomics and genomic technologies impacted how primary care practitioners and what models might be useful to integrate genomics into their practice to ensure they are fully supported to provide care for their patients.
For more information, see the Genioz study. It investigates the Australian public's expectations of personal genomics.
Investigating current and future education and training needs of the Australian workforce in genomic medicine
This research will identify the needs of a range of health professionals to inform future training and educational resources for health professionals utilising genomic testing. The Australian Genomics Health Alliance (AGHA) is a national network working towards developing genomic medicine both within Australia and in collaboration with international consortia. The AGHA comprises four programs, ranging from diagnostic and translational research networks, data repositories and ontologies, policy, through to education and ethics aspects of the workforce in genomic medicine, which is the focus of this project. By mapping current and planned education and training activities Australia-wide, assessing workforce needs, and developing an agile evaluation framework for future educational activities, this project will establish a national and coordinated approach to training and education to enable a workforce capable of delivering genomic medicine.
Funding
- National Health and Medical Research Council
- Australian Research Council
Collaborations
National
- The University of Melbourne, Department of General Practice
- The University of Melbourne, Health and Biomedical Informatics Centre
- Walter and Eliza Hall Institute of Medical Research
- The University of Sydney
- Garvan Institute for Medical Research
- Fragile X Alliance, Inc
International
- Wellcome Trust Sanger Institute, UK
- University of Ottawa, Canada
Featured publications
- Development of an Evidence-Based, Theory-Informed National Survey of Physician Preparedness for Genomic Medicine and Preferences for Genomics Continuing Education. 2020
- Exome Sequencing for Isolated Congenital Hearing Loss: A Cost-Effectiveness Analysis. 2020
- Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project. 2020
- Preparing Medical Specialists for Genomic Medicine: Continuing Education Should Include Opportunities for Experiential Learning. 2020
- A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system. 2019