Industry Lunch Sessions

Monday 17 July 2023

Time: 1215-1330hrs Eureka Room 1, Melbourne Convention and Exhibition Centre

Session title: Illumina Innovation Symposium: Navigating the Future of Genomics and Multiomics

Session speakers: Dr. Yin Nah Teo, Director of Scientific Research at Illumina, Associate Professor Paul Ekert, Group Leader, Translational Tumour Biology Laboratory Children’s Cancer Institute; Head, Translational Genomics for ZERO Childhood Cancer, Children’s Cancer Institute and Professor Joseph Powell, Director of Cellular Science at Garvan-Weizmann Centre for Cellular Science

Session synopsis: We delved into the cutting-edge world of genomics at the Illumina Innovation Symposium! As we proudly celebrated our 25th anniversary, this symposium served as a platform to discover the latest advancements in the field and gain insights from top experts. 

Time: 1215-1330hrs Hospitality Suite 6&7, Melbourne Convention and Exhibition Centre

Session title: Unlock the Power of Genomics with AWS

Session speakers: Dr Charlie Lee, Head of Genomics AWS, Prof Denis Bauer, Group Leader CSIRO and Associate Professor, Macquarie University and Dr Junhyung Park, CEO, 3BIGS

Session synopsis: Delegates joined for an insightful session where we explored the transformative potential of Amazon Web Services (AWS) in advancing the field of genomics.

We discussed how AWS provides scalable and secure computing infrastructure, enabling researchers and organizations to seamlessly process large-scale genomics data sets while reducing time and costs. We also delved into the comprehensive suite of AWS services and tools specifically tailored to optimize data storage and management, accelerate data analysis and foster collaboration.

We showcased real-world case studies demonstrating how AWS empowers scientists, researchers, and businesses to drive genomics innovations forward. Our esteemed guest speakers also shared their experiences on how they have successfully leveraged AWS for their genomics initiatives.

Attendees at the session gained insights into the latest advancements in genomics on AWS, learnt about the transformative impact of cloud computing in genomics research, and gained an understanding of how you can leverage these technologies to accelerate your own genomics projects. 

Time: 1230-1345hrs Room 208, Melbourne Convention and Exhibition Centre

Session title: Recent advances in Achondroplasia

Session speakers: Prof Ravi Savarirayan is a Group Leader of Molecular Therapies at the Murdoch Children’s Research Institute, Professorial fellow at the University of Melbourne and is an NHMRC Leadership Fellow. Julie Hoover-Fong is a Professor of Genetic Medicine and Paediatrics and Director of the Greenberg Center for Skeletal Dysplasias at John Hopkins University.

Session synopsis: This symposium explored the natural history, the clinical challenges and the role of the FGFR3 gene in individuals with achondroplasia.  World-renowned experts highlighted best practices in the field and spoke on collaborative care and novel treatments that aim to advance and improve patient care.

Tuesday 18 July 2023

Time: 1215-1330hrs Eureka Room 1, Melbourne Convention and Exhibition Centre

Session title: Genomics for All: Addressing disparities in access and diversity for better health outcomes

Session speakers: Maia Ambegaokar, Lead, Inclusive Genomics - Centre for Population Genomics, Garvan Insitute of Medical Research, Dr. Brock Schroeder, Vice President, Market Access, Illumina, Professor Alex Brown, Director - National Centre for Indigenous Genomics, Australian National University, Megan Maack, Chief Executive Officer, Childhood Dementia

Session synopsis: The field of genomics has the potential to revolutionize healthcare and improve health outcomes. However, the benefits of genomics must be available to all individuals, regardless of their race, ethnicity, social background, income, education level, and geographic location. Despite the rapid incorporation of genomics into clinical practice, significant disparities persist. Achieving equitable access to genomics requires diversity and inclusion in research, clinical implementation, and workplaces.

Currently, genomics research is dominated by higher and middle-income countries, with genomic databases largely composed of individuals of white European ancestry. This lack of diversity hinders the identification of genetic variations that contribute to disease susceptibility and the development of personalised treatments. To overcome these barriers, we must address the lack of equitable access to genomic testing and the lack of diversity in data and the workforce.

In this panel discussion, experts shared valuable insights into the challenges and potential solutions for improving diversity and equity in genomics research and clinical implementation. Let us work together to ensure that the life-changing benefits of genomics are accessible to all individuals, regardless of their background or location. Only through diversity and inclusion can we achieve better health outcomes for everyone.

Reference: Precision medicine needs an equity agenda. Nat Med 27, 737 (2021). https://doi.org/10.1038/s41591-021-01373-y 

Time: 1215-1330hrs Room 208, Melbourne Convention and Exhibition Centre

Session title: Lattice Imaging Technologies with ZEISS Lattice Lightsheet 7

Session speakers: Gavin Symonds - ZEISS, Kelly Rogers - Walter and Eliza Hall Institute of Medical Research and Niall Geoghegan - Walter and Eliza Hall Institute of Medical Research

Session synopsis: The session provided insights into the lattice imaging technologies using the ZEISS Lattice Lightsheet 7. 

The Lattice Lightsheet 7 is the latest development in lightsheet technology that covers a diverse range of sample types that fully utilises the existing range of sample holders used by biomedical researchers. The system will provide users with the capability for live cell imaging with samples as varied as adherent and suspension cells, spheroids and organoids and in small developmental embryo applications, to name a few. Fixed samples can also be imaged with the ZEISS Lattice Lightsheet 7 although the primary focus of the instrument is very gentle live cell imaging. 

Time: 1215-1330hrs Hospitality Suite 6&7, Melbourne Convention and Exhibition Centre

Session title: Oxford Nanopore Technologies: Researchers leading the way

Session speakers: Karen Miga, University California, Santa Cruz, Ira Deveson, Garvan Institute of Medical Research and Chloe Goldsmith, University of Canberra

Session synopsis: Oxford Nanopore Technologies’ goal is to enable the analysis of anything, by anyone, anywhere. The company has developed a new generation of nanopore-based sensing technology that is currently used for real-time, accurate, accessible, and scalable analysis of DNA and RNA. The technology is used in more than 120 countries, to understand the biology of humans, plants, animals, bacteria, viruses and environments as well as to understand diseases such as cancer. Oxford Nanopore’s technology also has the potential to provide broad, high impact, rapid insights in a number of areas including healthcare, food and agriculture. Attendees at this seminar heard from researchers using the technology, as well as the latest updated from the Oxford Nanopore team. 

Thursday 20 July 2023

Time: 1215-1330hrs Room 208, Melbourne, Level 2, Melbourne Convention and Exhibition Centre

Session title: Capacity building - moving beyond formal genomics education and training

Session speaker: Dr Eva Maria Cutiongco-de la Paz, Director, Health Program, Philippine Genome Center, University of the Philippines & Executive Director, National Institutes of Health, University of Philippines, Manila 

Session synopsis: Capacity building is vital for accelerating both genomics research, and its applications. To be successful, capacity building must reach beyond the attainment of scientific knowledge or technical skills. Wellcome Connecting Science, based at the Wellcome Genome Campus in the UK, has a track record of developing and delivering genomics focused learning and training events for researchers and healthcare professionals. Our activities are global, reaching 175,000 participants in the last five years. Evaluation data shows that while our activities positively impact individual careers and practice, more is needed to deliver truly effective and sustainable capacity building.

Feedback suggests that to capitalise on learning, professional skills around communication, collaboration, funding, and networking, are also critical. While training is a well-established route to develop these skills, access is not always available-in low resource settings. However, these skills can also be built through other means such as mentorship, peer support, and workplace experiences.

Starting with personal perspectives from the Philippines, on the impact of training complemented by mentoring; this workshop will enable participants to share knowledge and experiences, explore creative solutions, and identify development opportunities that are relevant to them.

Thursday 20 July 2023

Time: 1215-1330hrs Hospitality 6, Melbourne Convention and Exhibition Centre

Session title: Next Generation Newborn Screening from Idea to Implementation

Session speaker: Dr Glenn Bennett, MBBS, BSC(Med)(Hons) MLibStud MBA FACEM, Chief Medical Officer, Genepath, NSW, Australia Adjunct Fellow, School of Population Health, UNSW Medicine, University of NSW, Australia

Session synopsis: Newborn screening (NBS) is a highly effective public health intervention that reduces death and disability from treatable genetic diseases. To address ethical, privacy, workforce, technical and cost challenges that WGS presents, we have used a targeted next generation DNA sequencing approach. 

Over a 7-year program of research, we developed a targeted gene sequencing (TGS) panel of 132 genes which screens for high clinical utility, inherited conditions. We designed a high volume, fast turnaround laboratory workflow and coded bioinformatics software tailored for high throughput population NBS laboratories. We have done multiple methods-based analytical validations of the assay, and test performance in 2,552 newborns has been examined. In addition, we investigated the implications of Variants of Uncertain Significance for a screening test and the costs of implementing this new technology. 

We found that assay analytical sensitivity is >99% and specificity is 100%, and from our cohort of 2,552 newborns 1.3% of the newborns screened positive for a condition. The turnaround time was 7 to 10 days. Maximum weekly batch size was 1,536 samples. We have demonstrated that our TGS assay could be incorporated into an existing NBS program without major changes to consent pathways or models of care and additionally, we conclude that NBS using TGS may be highly cost-effective.