3 September 2021
This GA4GH Community Spotlight is the fourth in a monthly series featuring individuals from across GA4GH. This month we are featuring Professor Zornitza Stark. She is a clinical geneticist, working at Australian Genomics and the Victorian Clinical Genetics Services (VCGS). Zornitza completed her medical studies at the University of Oxford, before training in paediatrics at the Royal Children’s Hospital in Melbourne, and in clinical genetics at VCGS. She holds a doctorate in clinical genomics from the University of Oxford. Zornitza is passionate about the implementation of genomic technologies into healthcare, particularly as a first-tier test to transform the diagnosis of rare disease.
How did you get involved with GA4GH?
Australian Genomics is a Driver Project for GA4GH, and our team is involved across all the Work Streams. We strive to be enthusiastic contributors and early adopters of standards, as well as active collaborators with other Driver Projects. I am part of the Clinical and Phenotypic Data Capture Work Stream, and also the Genomics in Health Implementation Forum (GHIF).
What current projects are you working on?
I am a clinician and the projects I work on are very translational – I like to see immediate impact on patient care! I lead a national project providing ultra-rapid genomic testing to critically ill babies and children with rare disease. So far, we have delivered results in just under 3 days to over 350 Australian families. In the last 18 months, I also led the establishment of PanelApp Australia, an open platform for gene curation. This has improved evidence-based diagnostic practice nationally and allowed us to contribute to the international gene curation effort, in partnership with Genomics England, ClinGen and many others. I have recently started working on a national automated reanalysis program as part of a terrific team – watch this space! Data standards, interoperability and sharing are absolutely central to the success, scalability and sustainability of all our work and our ability to deliver on the promise of genomic medicine.
What is your favorite thing about the GA4GH Community and why?
I love being part of a large international community focused on the shared goal of advancing genomic data sharing to improve outcomes for patients and families. So much to learn from so many people, though often at 0600 for us here in Australia! I particularly enjoy being part of the Genomics in Health Implementation Forum (GHIF) and seeing how the same problems we are trying to solve have been tackled in different countries and healthcare systems. Sharing tools, and practical experience of what works and what doesn’t is such an important part of accelerating implementation of genomics in healthcare. Come along and get involved, all you need is an internet connection!