Genomics in Society Research
Making genomics meaningful for people, families, and healthcare
As genomic technologies rapidly evolve, they bring not only scientific breakthroughs but also important social, ethical, and educational questions.
Our Genomics in Society research group explores how these technologies affect individuals, families, healthcare professionals, and the broader community.
Our research goals
We aim to:
- Promote understanding of genetics and genomics.
- Support evidence-based practice in healthcare.
- Evaluate how genomic services are delivered and experienced.
Our research team
Our team brings together expertise in genetics education, ethics, genetic counselling, and qualitative research. This unique combination has positioned us as global leaders in studying the clinical and social impacts of genomics.
Contact us
Dr Clara Gaff
Group Leader / Honorary Fellow Manager
Email:
show email address
Group Leaders
Group Members
Our projects
Developing resources for people considering reproductive genetic carrier screening (RGCS) in Australia
We’re researching what people need to decide if reproductive genetic carrier screening (RGCS) is right for them and creating publicly accessible resources for anyone considering this in Australia.
Read more...Evaluating parents’ experiences of genomic testing in usual paediatric care
Paediatricians in Australia can now order publicly funded genomic tests for children with certain clinical features, without requiring a referral to a clinical genetics service. This change is designed to provide families with faster and more accurate diagnoses.
Our research explores the kind of support families need when genomic testing is offered outside traditional genetics services. We are also developing tools to measure the quality of care, helping health systems improve how they deliver and support genomic testing in paediatric settings.
Investigating current and future education and training needs of the Australian workforce in genomic medicine
This project examines the education and training needs of healthcare professionals who use genomic testing. It is part of the Australian Genomics Health Alliance (AGHA), a national network advancing genomic medicine in Australia and through international collaboration.
AGHA includes programs in diagnostics, data infrastructure, policy, ethics, and education. Our focus is on the workforce. We are mapping current and planned training activities, assessing professional needs, and developing a flexible evaluation framework. This work supports a coordinated national approach to building a workforce equipped to deliver genomic medicine.
Completed projects
PeTALS project: Understanding prenatal testing experiences
Prenatal testing has long been a routine part of pregnancy, particularly when a fetal abnormality such as Down syndrome is identified. However, little was known about how women in Australia experienced this process. The ARC-funded PeTALS study aimed to explore women’s emotional and support needs following a prenatal diagnosis.
Researchers conducted in-depth interviews and assessed anxiety, depression, and relationship bonds at three time points: six weeks, six to nine months, and two years after diagnosis. Early findings revealed that many partners felt unsupported, leading to their inclusion in the study. The results informed the development of a counselling intervention designed to better support couples navigating a prenatal diagnosis.
GeniOz project: Australians’ expectations of personal genomics
The GeniOz project explored how Australians perceived and expected to use personal genomic information—data derived from analysing an individual’s entire genetic make-up.
The study focused on three key areas:
- Public attitudes towards personal genomics.
- The potential to expand childhood population screening using genomic tests.
- The impact of genomic advances on primary care, and how best to support healthcare professionals in integrating genomics into their practice.
Funding
Thank you to our supporters.
- National Health and Medical Research Council (NHMRC)
- Australian Research Council
Collaborations
We partner with leading institutions worldwide, including:
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
McClaren BJ, King EA, Crellin E, Gaff C, Metcalfe SA, Nisselle A. Development of an Evidence-Based, Theory-Informed National Survey of Physician Preparedness for Genomic Medicine and Preferences for Genomics Continuing Education. Front Genet. 2020 Mar 3;11:59. doi: 10.3389/fgene.2020.00059. PMID: 32194615; PMCID: PMC7063665.
Downie L, Amor DJ, Halliday J, Lewis S, Martyn M, Goranitis I. Exome Sequencing for Isolated Congenital Hearing Loss: A Cost-Effectiveness Analysis. Laryngoscope. 2021 Jul;131(7):E2371-E2377. doi: 10.1002/lary.29356. Epub 2020 Dec 31. PMID: 33382469.
Downie L, Halliday J, Lewis S, Lunke S, Lynch E, Martyn M, Gaff C, Jarmolowicz A, Amor DJ. Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project. Genet Med. 2020 May;22(5):937-944. doi: 10.1038/s41436-019-0745-1. Epub 2020 Jan 24. PMID: 31974413.
McClaren BJ, Crellin E, Janinski M, Nisselle AE, Ng L, Metcalfe SA, Gaff CL. Preparing Medical Specialists for Genomic Medicine: Continuing Education Should Include Opportunities for Experiential Learning. Front Genet. 2020 Mar 3;11:151. doi: 10.3389/fgene.2020.00151. PMID: 32194628; PMCID: PMC7063730.
Martyn M, Kanga-Parabia A, Lynch E, James PA, Macciocca I, Trainer AH, Halliday J, Keogh L, Wale J, Winship I, Bogwitz M, Valente G, Walsh M, Downie L, Amor D, Wallis M, Cunningham F, Burgess M, Brown NJ, Jarmolowicz A, Lunke S, Goranitis I; Melbourne Genomics Health Alliance; Gaff CL. A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system. J Genet Couns. 2019 Apr;28(2):388-397. doi: 10.1002/jgc4.1102. Epub 2019 Feb 18. PMID: 30776170.