HGSA 45th
Annual Scientific Meeting
24-27 November 2022
Perth Convention and Exhibition Centre
Perth, Western Australia
Times are based on Perth, WA time (GMT +8)
Note: Plenary Sessions will be Live Streamed. Concurrent Sessions will be recorded and available on-demand post conference (these will be available approx 1-2 weeks post meeting).
ASIEM Meetings | Trainee Clinician’s session - meeting for current trainees in Metabolic Medicine or Biochemical Genetics (Parmelia Hilton Hotel, Perth). Please contact Francesca Moore at ASIEM for any inquiries. |
Newborn Screening and Biochemical Genetics Business Meeting (closed meeting) (Parmelia Hilton Hotel, Perth) | |
Committee Meetings | Board of Censors (BoC) for Genetic Counselling (Parmelia Hilton Hotel, Perth) |
1830-2100 | ASGC SIG Mixer - The Island, Elizabeth Quay. |
0730-1700 | Registration Desk Open |
0900-1700 | Special Interest Group (SIG) Meetings, PCEC - View programs here ASDG AACG ASGC ASIEM |
1800-2300 | CONFERENCE WELCOME GALA DINNER @ Optus Stadium Join us for our Welcome Gala Dinner and celebrate in style, with a much-anticipated Dinner at the outstanding Optus Stadium. Enjoy a night of celebrations, catching up and networking with friends and colleagues, fantastic local entertainment and delicious food and wine. |
0700-0815 | Genomics Education Network Australasia (GENA) meeting Networking and presentations by GENA members about programs, courses and resources in genomics education. To find out more about the network and/or RSVP for this hybrid meeting, please register here. |
0730-1800 | Registration Desk open |
0830-0850 | Opening Ceremony and Welcome to Country |
0850-1020 | OPENING PLENARY & THEMED SESSION 1: Giving Voice to Lesser Heard Languages Plenary 1: Dr Monkol Lek (virtual) - Increasing diversity in rare disease research: challenges and opportunities Plenary 2: Mr Gregory Pratt - GenEtiquette: First Nations Leadership for Equitable Access to Genetic Testing, Genomics Research and Precision Health Plenary 3: Prof Stephen Robertson - Māori-led indigenous healthcare genomics in Aotearoa New Zealand |
1020-1100 | MORNING TEA AND EXHIBITION OPENING |
1100-1145 | SUTHERLAND LECTURE A/Prof Jodie Ingles - Not for the faint hearted: Two decades of cardiac genetic counselling |
1145-1330 | PLENARY AND THEMED SESSION 2: New Developments: New Conversations Plenary 4: Prof Brian Bigger - Stem Cell Gene Therapy to Treat Childhood Dementias – A Sanfilippo story Plenary 5: A/Prof Elizabeth Worthey - New developments in the identification and interpretation of clinically actionable causal and modifier variation Plenary 6: A/Prof Karin Kassahn - Better Faster Cheaper – choose two? Or the quest for the perfect clinical genomics service Plenary 7: Dr Louise Bicknell - The complicated and little-explored world of histone genetics |
1330-1430 | LUNCH, EXHIBITION & POSTERS |
1430-1530 | CONCURRENT INDUSTRY SESSIONS |
Is lack of diversity failing the implementation of precision medicine? Join us to hear from the Illumina Head of Medical Affairs for Asia Pacific Japan, Dr Amol Zimur. Dr Zimur will be discussing the need for diversity in genomic data through a short presentation titled “Is lack of diversity failing the implementation of precision medicine?”. The presentation will be followed by a panel discussion moderated by Dr Zimur to provide greater insight and consideration around the need for building diverse genomic data. Joining us for the panel discussion:
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Agilent Industry Session Early insights from “DNA Screen”: a high-profile Australian pilot study for population genomic screening Dr Tú Nguyen-Dumont, Head, Clinical Genomics laboratory, Monash University, Australia Updates on the Agilent NGS workflow solution Dr. Dan Belluoccio, Senior Field Applications Scientist, Agilent Technologies, South Asia Pacific Join us at the Agilent Industry Session to learn how the “DNA Screen” national pilot study is igniting an impact on future generations.In Australia, access to genetic testing currently relies on a personal or family history of disease. These criteria are inadequate as they fail to detect most high-risk individuals, with ~50-90% carriers estimated to be missed by current practice.The “DNA Screen” program has assembled a team of internationally recognized leaders in genomics, oncology, epidemiology, clinical genetics, and implementation science to demonstrate proof-of-concept for population genomic screening in a cohort of 10,000 young adults recruited from the Australian general population who will be offered germline DNA screening, via a highly targeted NGS gene-panel. The study will assess the acceptability, scalability, and cost-effectiveness of offering this test to young adults in the Australian public healthcare system.In this presentation, Dr. Tú Nguyen-Dumont will provide early insights from “DNA Screen”, following its official launch in August 2022.In addition, Dr. Dan Belluoccio, Senior Field Applications Scientist, Agilent Technologies, South Asia Pacific, will provide brief updates on the Agilent NGS workflow solution. | |
Twist Bioscience Industry Session Implementation of the TWIST exome in Pathology Queensland: One test to rule them all Ben Lundie Pathology Queensland the state-wide public pathology provider for Queensland Health has recently completed validation and implementation of the TWIST Comprehensive Exome plus VCGS spike in. This process included an initial market scan followed by a head-to-head comparison of three commercially available enrichment kits and two library preparation kits. The head-to-head comparison utilised a quantitative rubric to compared hands on time, cost, ease of use, sequencing statistics, analytical performance against NIST controls and gene/region specific performance including coverage of clinically relevant intronic regions.The TWIST exome with the TWIST library preparation kit scored highest of kits tested. In particular it scored the highest points for ease of use and detection of clinically relevant variants. The TWIST exome was further validated for clinical use and achieved a mean recall of 98.7% for SNVs and 97.6% for indels when compared against the NIST gold standard regions of HG001-HG005. Coverage was 98.88% of bases covered at a depth >20x for all genes currently known to be associated with disease.The implementation of the TWIST exome has significantly reduced the cost of testing within Pathology Queensland and allows for the consolidation of all sequencing tests, from single gene analysis to large phenotype specific panels such as intellectual disability into a single platform. In addition to the increased utility of exome data for future use, this increase in efficiency decreases hands on time for tests allowing for the reallocation of scarce scientific resources off the bench and onto the analysis of cases. The Utility of Twist Custom Panels in a Diagnostic Setting | |
1530-1600 | AFTERNOON TEA AND EXHIBITION |
1600-1730 | CONCURRENT SIG SESSIONS - SUBMITTED ABSTRACTS |
Concurrent Session 1: ASDG 1. Improving fragile X Syndrome carrier screening with the inclusion of AGG interruption analysis - Ms Michelle Challis 2. Detection of SMA risk alleles in Diagnostics, Carrier Screening and Newborn Screening – A/Prof Richard Allcock 3. Results from an Australian prenatal exome sequencing cohort and hypercomplex cases requiring multidisciplinary team reporting - Dr Caitlin Forwood 4. A false positive false negative! Non-invasive prenatal testing results and lessons in placental biology - Ms Nicola Flowers 5. Accurate screening of pregnancies from known carriers of balanced reciprocal translocations using genome-wide NIPT - Dr Mark Pertile 6. Introduction of non-invasive Fetal Rhesus D genotyping in Western Australia - Mr Philip Asquith & Ms Gillian Arscott (virtual) | |
Concurrent Session 2: AACG 1. A Randomized Controlled Trial of Vosoritide in in Infants and Toddlers with Achondroplasia - Prof Ravi Savarirayan 2. Audit of a multidisciplinary hearing impairment clinic - Dr Frida Djukiadmodjo 3. Mechanisms of incomplete penetrance-Pathogenic variants can be passed from an unaffected parent to an affected child via two dozen mechanisms - Dr Shuxiang Goh (virtual) 4. Muscle RNA sequencing: An increasingly important neuromuscular diagnostic and gene discovery tool - Mr Andrei Smolnikov 5. Multi-specialty collaboration solves a NGLY1 second-hit mystery: the answer lies in the RNA - Dr Brieana Dance 6. Expanding the speech and language phenotype in Koolen-De Vries Syndrome: Late onset and periodic stuttering a novel feature - Ms Miya St John | |
Concurrent Session 3: ASGC 1. Models of communication for polygenic scores and associated psychosocial and behavioural impacts on recipients: a systematic review - Ms Courtney Wallingford 2. Evaluation of an online training program on healthcare providers’ knowledge and confidence towards personalised cancer risk - Dr Tatiane Yanes 3. Co-design, implementation, and evaluation of plain language genomic test reports - Ms Gemma Brett 4. Laboratory genetic counsellors in a stewardship program supported behaviour change amongst non-genetic clinicians - Dr Lindsay Fowles & Ms Aimee Dane 5. Psychiatric genetic counselling: a survey of Australasian genetic counsellors’ practice and attitudes - Ms Joanne Isbister-Smith 6. Using Virtual Clinical Placement to enhance student learning and readiness for practice - A/Prof Alison McEwen | |
Concurrent Session 4: ASIEM - Newborn Screening Workshop 1. Newborn bloodspot screening - national expansion - Ms Karla Lister 2. Changing face of newborn bloodspot screening – A rare disease sector forum: Reframing policy conversations through collaborative, multistakeholder, informed discussion – Ms Louise Healy 3. MRFF grants and Genscan presentations (5min presentations):
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1730-1930 | EXHIBITION NETWORKING RECEPTION Network with our exhibitors and catch up with colleagues during the Networking Reception. Includes canapes and drinks |
From 1900 |
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0730-1730 | Registration Desk open |
0700-0745 | Industry Session Breakfasts Each sponsor is providing some light breakfast snacks and coffee/tea before their session. Please join them from 0700-0745 outside their allocated room (refer to conference app for details). |
0745-0845 | CONCURRENT INDUSTRY SESSIONS |
BGI Industry Session New and Improved Approach of Colorectal Cancer Diagnosis Using Colotect® and DNBSEQ™ Technologies Dr Boris Wong, Quality Manager & Medical Scientist, BSc. (BioMed) MLabMed., Doctor of Philosophy (PhD) Candidate, Translational Genomics and Epigenomics Laboratory, Dept. of Surgery, The University of Melbourne, VIC. Join this one-hour technology workshop to hear from local Australian researchers using the world-leading technologies featuring guest speaker Boris Wong, Researcher and Quality Manager of the Translational Genomics and Epigenomics Laboratory at the University of Melbourne, and more. Boris will be sharing his first-hand experience using these novel technologies in his medical oncology research. In working with health professionals on clinical patients to contribute to resolving some of the most challenging issues in colorectal cancer diagnostics, Boris will be demonstrating his team’s study to potentially eliminate invasive procedures such as Colonoscopy and ascertain a new non-invasive and easy-to-use approach in colorectal cancer diagnosis achieving high sensitivity, specificity and accuracy. | |
Oxford Nanopore Technologies Industry Session Nanopore Sequencing - A better understanding of the human genome A comparison between optical genome mapping and long read sequencing for the identification of copy number variants and other genomic changes Laureate Professor Rodney Scott, Hunter Medical Research Institute & University of Newcastle, NSW The identification of large genomic deletions or duplications has revealed their importance in a variety of diseases that include cancer where copy number variants (CNVs) are considered to be a universal predictor for survival in disease. Outside of the context of cancer, CNVs are emerging as important factors in psychiatric and neurological disease genetics, to name but a few. The identification of CNVs has significantly improved since the introduction of long-read sequencing and optical mapping both of which outperform comparative genomic hybridization and SNP based arrays. This talk will describe the benefits and drawbacks of both optical mapping and long-read sequencing associated with the identification of CNVs. National Centre for Indigenous Genomics enabling the inclusion of First Nations peoples in genomics Dr Hardip Patel, Bioinformatics Lead, National Centre for Indigenous Genomics, College of Health & Medicine, Australian National University, ACT The National Centre for Indigenous Genomics (NCIG) is developing a perpetual community resource comprised of reference genomic data and biospecimen collection from Indigenous Australians. The NCIG Collection is managed under Indigenous governance and backed by Australian federal statutory powers to support and enable biomedical research and precision medicine that benefits Indigenous Australians’ health and wellbeing. NCIG has established deeply trusted relationships with four Indigenous communities since 2015, whereby 684 individuals have donated their genomic data and biological samples to the growing NCIG Collection. We have begun generating telomere-2-telomere reference genome assemblies using ONT Ultra Long, PacBio HiFi and chromosome conformation capture (HiC) sequencing platforms. These reference genomes reveal Indigenous-specific sequences, including >2Mb of new sequences. Similarly, whole-genome sequence data from 160 individuals using Illumina short reads and ONT long reads show distinct genetic diversity missing from global resources. We detect ~25% of variation distinctly found only in Indigenous Australians; between 10 and 31% of variants are found only in a single community due to the prolonged isolation from each other and global populations. The unique genetic diversity of Indigenous Australia warrants modifications to the genomic analysis and interpretation workflows to improve research and health outcomes. NCIG continues to expand its genomic reference resources by including more communities, using the latest sequencing technologies and integrating these resources into clinical services and healthcare through a national network. To receive more information from Nanopore, please register here. | |
Bionano Genomics Industry Session Next Generation Cytogenomics made possible by Optical Genome Mapping. The adoption of OGM in a clinical diagnostic setting Dr Harmony Clayton, Medical Scientist, Department of Diagnostic Genomics, PathWest The potential of OGM to transform standard-of-care in cancer Prof. Vanessa Hayes, Petre Chair of Prostate Cancer Research, School of Medical Sciences, Head of Ancestry & Health Genomics Laboratory, Charles Perkins Centre. (CPC), The University of Sydney | |
0900-1730 | Exhibition Opens |
0900-1030 | PLENARY & THEMED SESSION 3: Phenotyping, ontology and language: Shaping our Genomic Lexicon Plenary 8: Prof Angela Morgan - The genetic bases of severe childhood speech disorder Plenary 9: Dr Gina Ravenscroft - Ten years of disease gene discovery and diagnostics in neurogenetic diseases Plenary 10: Prof Zornitza Stark - The Acute Care Genomics program: a national multi-omic approach to rapid rare disease diagnosis |
ASIEM Dietetic/Allied Health/Nurses Session: Ketogenic diets and CGM in GSDs Facilitator: Dr Fiona White | |
1030-1100 | MORNING TEA AND EXHIBITION |
1100-1230 | CONCURRENT SIG SESSIONS - SUBMITTED ABSTRACTS |
Concurrent Session 5: ASDG 1. Escaping early: Frequency, impact, and interpretation of start-proximal termination variants - A/Prof Seb Lunke 2. National engagement of Australian clinical genetic testing laboratories via the shariant platform identifies mechanisms to prioritise variant evaluation – Ms Emma Tudini 3. Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services - Prof Zornitza Stark 4. Whole Genome Sequencing Partnership Program: A risk-sharing agreement to implement WGS as a first line test in paediatric monogenic disease - Mr Ben Lundie 5. Recognising variable phenotypic expressivity in genomic analysis of severe monogenic disorders - Dr Peer Arts 6. How do we do it now? Reanalysis of genomic data – looking towards automation - A/Prof Stephanie Best | |
Concurrent Session 6: AACG 1. Integration of episign, machine learning facial phenotyping and lirical in the classification of an arid1b missense variant - Dr Caitlin Forwood 2. Single-Centre experience with real-time prenatal genomic testing for counselling and pregnancy management - Dr Alice Rogers 3. Bionano optical genome mapping for FSHD1 molecular diagnosis - Dr Harmony Clayton 4. Findings of the AGHA Neuromuscular Disorders Flagship - Mr Jevin Parmar 5. Is genomic analysis of products of conception worthwhile? A population-based study of postnatal chromosome testing from 2020-21 – Ms Cecilia Pynaker 6. Two patients with rnu4atac related disease: clinical presentation and genotypic findings - Dr Kaitlin McGinnis | |
Concurrent Session 7: ASGC 1. Decision-making about reproductive genetic carrier screening in Mackenzie’s Mission - Ms Erin Tutty 2. Reproductive outcomes matched to disease severity for couples at increased chance on reproductive genetic carrier screening - Ms Lucinda Freeman 3. Referral indications for prenatal genetic services over 15 years: Trends and practice implications for genetic counselling - Ms Joanne Kelley 4. Mainstreaming genomic testing for paediatric inborn errors of immunity: an evaluation of a novel model of care for genetic counsellors - Dr Tatiane Yanes 5. Young people’s experience of predictive genetic testing for inherited cardiac conditions: A qualitative study - Miss Ansley (Annie) Morrish & Miss Sarah Mulhern 6. Integrating genetic testing and counselling into ophthalmic care: A review of genetic testing outcomes in clinical practice - Mr Joshua Schultz | |
Concurrent Session 8: ASIEM - Changing Face of Service Delivery 1. Rare metabolic disease workforce white paper: advocating for national reform - Dr Falak Helwani 2. Childhood dementia - The facts, symptoms and lived experience – Ms Kristina Elvidge 3. The importance of a genetic diagnosis for adult-onset mitochondrial disorders: Motivations for genetic & genomic testing - Dr Michelle de Silva 4. Incidental diagnosis of metabolic conditions on carrier screening – experience of changes in treatment in an Adult Metabolic centre – Ms Sarah Donoghue | |
1230-1330 | LUNCH, EXHIBITION & POSTERS |
1330-1500 | PLENARY & THEMED SESSION 4: New Experiences of Disease - from Genotype to Phenotype Plenary 11: Prof Fowzan Alkuraya (virtual) - Deconvoluting variant-phenotype links through autozygosity Plenary 12: Dr Yvonne Bombard - The Genetics Adviser: Patient-centred digital application enhancing preferences and outcomes of (primary &) incidental findings Plenary 13: Dr Erin Turbitt - Beyond clinical utility: Assessing patient-reported benefits from genomic results Plenary 14: Prof Felicity Boardman (virtual) – Making sense of uncertainty: newborn screening and genetic nomadism |
1500-1530 | AFTERNOON TEA AND EXHIBITION |
1530-1630 | CONCURRENT SUBMITTED ORALS SESSIONS - TOP 12 ORALS |
Concurrent Orals Session 1 1. Insights into the genetics and pathomechanisms of cortical dysplasia by analysis of patient-derived brain tissue - Dr Paul Lockhart 2. Germline variants in tumor suppressor fbxw7 lead to impaired ubiquitination and a novel neurodevelopmental syndrome - Prof Tiong Yang Tan 3. Defining the phenotype of White-Kernohan syndrome - Professor Susan White 4. RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics - Miss Carolin Scriba | |
Concurrent Orals Session 2 5. An interactive, online education program to prepare the Australian workforce to incorporate rapid genomics in paediatric critical care - Ms Giulia Mccorkell (virtual) 6. The National Genomic Autopsy Study: A summary of results, outcomes and instructive families from 254 trios/quads - Prof Christopher Barnett 7. Evaluation of the NSW newborn screening pathway for SMA – Ms Tiffany Wotton 8. The new language of methylation episignatures in the old talk addressing developmental delays – Mr Dimitar Azmanov | |
Concurrent Orals Session 3 9. Australian genomics state and territory health systems consistency project identifies 21 gaps and/or inconsistencies in genomics health plans - Dr Matilda Jackson 10. New conversations with health care practitioners - offering reproductive genetic carrier screening: Mackenzie’s Mission, Australia - A/Prof Stephanie Best 11. The reclassification odyssey: From genes and variants of uncertain significance, in the perinatal setting, to clinical utility for recurrence risk - Dr Thi Thuong Ha 12. Listening and responding to the information and support needs of people with intellectual disability in genomic healthcare - Dr Elizabeth Palmer, Ms Jackie Boyle, Ms Skie Sarfaraz & Prof Iva Strnadova | |
1630-1730 | POSTER SESSION (with wine & cheese) The Poster Session provides poster authors the opportunity to network and discuss their poster with delegates during the following times: 1630-1700 - Odd numbered posters 1700-1730 - Even numbered posters |
1730-1900 | CONCURRENT WORKSHOPS |
1730-1900 | Mackenzie’s Mission: Outcomes from the Australian Reproductive Genetic Carrier Screening Project Presentations: Dr Alison Archibald, Dr Stephanie Best, Prof Martin Delatycki, Prof Edwin Kirk and Prof Nigel Laing Panel discussion:Prof Martin Delatycki, Dr Lisa Dive, Ms Corrina Cliffe, Ms Samantha Edwards, Dr Kylie Sterry Facilitator: Ms Tiffany Boughtwood |
1730-1830 | Genomic data in the digital health system: how can it happen? Can the healthcare system handle the blueprints of 26 million Australians? How can 5.2 trillion bytes of genomic data be stored securely, retrieved on demand, and analysed meaningfully alongside our current medical records? Join us to see how private and public healthcare providers think about this challenge. Mr David O’Driscoll is the lead author of the Blueprint for a National Approach to Genomic Information Management (NAGIM). He’ll reflect on insights from working with the research and digital health sectors over the last decade and how genomic data management is transitioning to mainstream. Dr Marie-Jo Brion from Australian Genomics will present an update on their work towards providing NAGIM implementation recommendations to the Federal Government for a secure and scalable approach to managing genomic data in Australia’s healthcare system. Dr Natalie Thorne from Melbourne Genomics will share exciting progress made towards a scalable and interoperable clinical platform for genomics. This will be followed by an open discussion facilitated by David O’Driscoll. |
1900-2100 | PRESIDENTS' RECEPTION (invite only event) - The Island, Elizabeth Quay. |
0800-1300 | Registration Desk open |
0830-1300 | Exhibition Opens |
0830-1000 | PLENARY & THEMED SESSION 5: Data sharing - lessons from Indigenous data sovereignty Panel: Ms Heather Renton - Consumer perspectives around genomic data Ms Bobby Maher - Overview of the Indigenous Data Sovereignty principles Prof Gareth Baynam - Applying Indigenous Data Sovereignty principles in the clinic and in research Prof Stephen Robertson - The application of Indigenous Data Sovereignty principles in Aotearoa |
1000-1030 | MORNING TEA AND EXHIBITION |
1030-1115 | HGSA ORATION Prof Nigel Laing - Tales of a Grandfather (Molecular Genetics). |
1115-1215 | HGSA AGM & Certificate Presentations This is open to HGSA members only |
1215-1300 | LUNCH, EXHIBITION & POSTERS Exhibition & Posters close at 1pm. All Posters must be removed by 1pm. |
1215-1300 | Virtual Poster Session View virtual posters and post questions to authors via the chat box in the app and virtual portal. |
1300-1415 | PLENARY & THEMED SESSION 6: The Changing Tide of Cancer Genetics Plenary 15: Dr Laura Forrest - Relationship and reproductive experiences and outcomes for young people with an inherited cancer syndrome Plenary 16: A/Prof Logan Walker - Inherited cancer risk and precision cancer prevention Plenary 17: Prof Vanessa Hayes - Clinical benefit for genome profiling prostate cancer health disparities |
1415-1430 | Closing Ceremony & Award Presentations |
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