Programme

Times are based on QLD AEST (GMT +10)

Note: Plenary Sessions will be Live Streamed (subject to virtual numbers). Concurrent Sessions will be recorded and available on-demand post conference (these will be available approx. 2-3 weeks post meeting).

Friday 9 August

ASIEM Meetings @ Sofitel Broadbeach	Trainee Clinician’s session - meeting for current trainees in Metabolic Medicine or Biochemical Genetics. Newborn Screening and Biochemical Genetics Business Meetings (closed meetings)
Committee Meetings @ Sofitel Broadbeach	HGSA Advisory Council Meeting
From 1830	ASIEM SIG Mixer - Mecca Bah Broadbeach

Saturday 10 August - Gold Coast Convention & Exhibition Centre (GCCEC)

0730-1800	Registration Desk Open
0830-1700	Special Interest Group (SIG) Meetings - CLICK HERE FOR PROGRAMMES
1700-1900	CONFERENCE WELCOME RECEPTION & EXHIBITON OPENING Network with our exhibitors and catch up with colleagues and friends at the Welcome Reception. Includes canapes and drinks
1900 ONWARDS	AACG SIG DINNER - Mecca Bah Broadbeach, $75pp (3 course banquet menu) ASDG SIG MIXER - Broadbeach Tavern, Broadbeach ASGC SIG MIXER - The Lucky Squire, Broadbeach

Sunday 11 August

0730-1800	Registration Desk open
0840-0900	OPENING CEREMONY AND WELCOME TO COUNTRY
0900-1030	OPENING PLENARY & THEMED SESSION 1: Genomics and Artificial Intelligence 1: Dr Karen Gripp (USA) - Precision phenotyping through artificial intelligence algorithms for facial analysis 2: A/Prof Phillip Melton - Applications of artificial intelligence for complex disease genomics 3: Dr Caitlin Curtis - Ethical, Legal and Social issues being created by advances in artificial intelligence and emerging technologies
0900-1030	Allied Health Workshop Use of Ketogenic Diet Therapy (KDT) in Paediatric Pyruvate Dehydrogenase Complex Deficiency (PDHCD) – A Case Series - Miss Tessa Bollard Management of ketogenic diet
1030-1100	MORNING TEA AND EXHIBITION
1100-1230	PLENARY AND THEMED SESSION 2: Diversity in Genomics 4: Dr Yvonne Bombard (virtual) - Reducing disparity in cancer genetics services. 5: Ms Yasmin Bylstra - The experience of implementing genomics into clinical practice guided by Asian ancestry-specific data 6: A/Prof Phillip Wilcox - Tikanga and mātauranga in genetics and genomic sciences 7: Prof Daniel MacArthur - Increasing equitable representation in genomic resources Panel Discussion
1230-1330	LUNCH, EXHIBITION & POSTERS
1330-1500	CONCURRENT SIG SESSIONS - SUBMITTED ABSTRACTS
	Concurrent Session 1: ASGC “This is going to change everything”: Outcomes of reproductive genetic carrier screening in Mackenzie's Mission at 12-months post-result - Ms Erin Tutty Mainstreaming genomic testing for paediatric inborn errors of immunity - Dr Tatiane Yanes Developing students' understanding of research processes: A scoping review - Prof Alison McEwen The experiences of women who receive an integrated risk assessment for breast and ovarian cancer through the PRiMo trial - Mary-Anne Young Genetic counselling in IVF: Where are we now? - Cheryl Tse Offering additional findings in paediatric acute care: Pilot and process evaluation of a two-step model - Dr Melissa Martyn
	Concurrent Session 2: AACG Co-design of clinical educational resources and national guidelines for rare disease health care – Dr Elizabeth Emma Palmer Early success stories from a comprehensive new whole genome-based neuromuscular diagnostic and gene discovery pipeline – Dr Emily Oates Genomic multidisciplinary teams: Facilitating genetic mainstreaming and precision medicine – Dr Alan Ma Outcomes of a clinically integrated multi-omic rare disease program, RDNow, for individuals who remain undiagnosed after clinical genomic sequencing – Prof Tiong Yang Tan Monoallelic FNDC3B variants cause a novel connective tissue disorder with Aortopathy and other vascular tortuosity – Dr Natalie Tan Clinical genetics for severe child speech disorder: findings from 143 cases – Prof Angela Morgan
	Concurrent Session 3: ASDG 'Twin masts in the DNA-ocean end a long diagnostic odyssey’ – The benefits of genetic re-analysis for neurodevelopmental disorders – Mx Angelo Condell Validating the use of nanopore long-read sequencing for the interrogation of potential splice-altering variants by RT-PCR in routine diagnostics – Dr Stuart Webb Long read nanopore sequencing: A robust method to phase variants - Dr Javad Jamshidi Evaluation of massively parallel splicing assay data for clinical variant interpretation – Dr Daffodil Canson Enabling application of computational evidence in clinical classification of regulatory variants by region-specific calibration – Dr Rehan Villani Large mitochondrial DNA deletions – Which ones are clinically relevant? – Dr Sze Chern Lim
	Concurrent Session 4: ASIEM Invited Speaker: The aetiology of eye disease in LCHAD deficiency - A/Prof Melanie Gillingham Preliminary results from the APHENITY extension study: Sepiapterin reduces blood Phe with improved dietary Phe tolerance in participants with phenylketonuria – Dr Heidi Peters RDMASSSPEC Explorer: an online platform for the interrogation of rare disease functional data – Dr Nikeisha Caruana mitoHOPE: Delivering mitochondrial donation in the Australian context – Prof John Christodoulou Establishing the leigh syndrome natural history study node in Australia – Miss Eloise Uebergang
1500-1530	AFTERNOON TEA AND EXHIBITION
1530-1630	CONCURRENT INDUSTRY SESSIONS
	Industry Session Precision and Progress: Advancing Precision Medicine through Multi-Omics Next Generation Solutions HRD testing using an automated workflow and analysis pipeline - Laureate Professor Rodney J Scott, Director of Molecular Medicine, NSW Health Pathology, Newcastle Validation of capture based NGS panels using an automated library preparation instrument (Agilent Magnis NGS Prep System) in a diagnostic laboratory - Ms Wendi Lin, Medical Scientist, Austin Pathology
	Industry Session What you’re missing matters - Reveal the biology that will transform human health Motif diversity and repeat expansion instability in Familial Adult onset Myoclonic Epilepsy - Mark Corbett, University of Adelaide The long and the short of establishing a clinical nanopore sequencing facility for acute care in New Zealand - Justin O'Sullivan, University of Auckland Why is population health the future of medicine - Kathleen Barnes, Oxford Nanopore Technologies
	Industry Session Genetic Counselling for Spinal Muscular Atrophy in the post-therapy era The session will provide you with important updates in the management of Spinal Muscular Atrophy (SMA) and highlight the impact this has had on family planning choices for families impacted by SMA. Perspectives on the evolving role of the Genetic Counsellor for SMA will be discussed. 1530-1545 Gaining insights from a parent’s journey with SMA 1545-1600 Advancements in treating SMA 1600-1615 The role of genetic counselling in SMA - Genetic Counsellor, Pauline McGrath 1615-1630 Q&A
1630-1635	Delegates move to workshops
1635-1805	CONCURRENT WORKSHOPS
	Workshop 1: Polygenic risk in clinical practice Thank you to Illumina for providing funding to support delivery of the workshop and material development. Learning outcomes: By the end of the workshop participants will be able to: 1. Understand the current landscape of polygenic and integrated risk in Australia (including trials and current tests available to this audience) 2. Recognise the utility of incorporating risk information into genetics practice (including incorporation with monogenic information) 3. Being able to incorporate risk information into clinical genetics practice Take home resources: As part of attending this workshop you will be provided with take-home resources including: 1. Recommended reading. 2. Glossary of key terms and definitions related to PRS and integrated risk 3. Sample report highlighting and explaining important information.4. Key points to consider in communicating results. Program: Jennifer Berkman - Welcome Tatiane Yanes - PRS in research and clinical practice: the who, what, where and when This talk will explore the current landscape of polygenic and integrated risk in Australia and Internationally. The audience will also learn about the research to date to facilitate use of PRS and the recently published HGSA position statement and the NSAGC practice resource on PRS. Sibel Saya - Recognise the utility of incorporating risk information into genetics practice This talk will explore the common methods of evaluating PRS for use in clinical practice. The audient will learn the questions to consider when evaluating a PRS and integrated risk, and current evidence for use in clinical practice. Tatiane Yanes, Sibel Saya, Mary-Anne Young, Paul James - Cases Discussion In this interactive session, the audience will be provided with examples of integrated risk reports and guided through case discussions. The discussions will explore key aspects of the report, how to interpret and evaluate results, and resources available to healthcare providers. Jennifer Berkman - Closing
	Workshop 2: Embracing Diversity: Navigating Genetic Healthcare for LGBTQIA+ Families and Children An interactive workshop which provides the opportunity for genetic health professionals to up-skill in regards to the unique issues that LGBTQIA+ families and children face in both wider healthcare and genomic medicine. Includes didactic and interactive components and skill development. We will discuss understanding LGBTQIA+ identity in families, communication strategies, mental health considerations, gender affirming care in minors, and legal and ethical implications of genetic testing in LGBTQIA+ minors.
	Workshop 3: Population genomic screening (of adults for medically actionable conditions) This workshop includes: Presentation of primary outcome results from the DNA Screen national pilot study Opportunity for the genomics community to engage in discussions about population genomic screening (and its many related issues, including ethical, legal, social issues, clinical implications, health-economics, implementation challenges) Discuss the level of national interest in the pilot program, the implications, and the possible future scaling-up of population genomic screening in Australia Q&A session, including stakeholders providing their views, including consumers.
	Workshop 4: Somatic Variant Curation: Implementation of the ClinGen/CGC/VICC 2022 Oncogenicity SOP Presented by Dr Laveniya Satgunaseelan FRCPA, and the Shariant team. This workshop is designed for variant curation scientists, pathologists and diagnostic laboratory staff who are using or implementing the ClinGen/CGC/VICC 2022 Oncogenicity SOP for curation of somatic variants, to support best practice use and provide practical support on implementation. The session will consist of a presentation from Dr Laveniya Satgunaseelan, including troubleshooting of frequently asked or audience-submitted questions, and open discussion time. Dr Satgunaseelan is a neuropathologist at Royal Prince Alfred Hospital in Sydney. In addition to her clinical and research work in genomics related to neuropathology, she is also an active member of the Cancer Genomics Consortium (CGC) and co-chairs the ClinGen Histone H3 Somatic Cancer Variant Curation Expert Panel and Solid Tumor Taskforce.
1805-1905	POSTER SESSION The Poster Session provides poster authors the opportunity to network and discuss their poster with delegates. Food and drink included. *Poster Partner*
1930	PRESIDENTS RECEPTION @ SOFITEL (INVITE ONLY FUNCTION)

Monday 12 August

0730-1600	Registration Desk open
0730-0830	CONCURRENT INDUSTRY SESSIONS
	Industry Session Accelerating genomic medicine through national initiatives: Learning from different countries Dr Michael Fietz
	Industry Session Target what really matters – Exome sequencing for a better clinical data Dr Christopher Noune Ms Justine Elliot
0830-1700	Exhibition Opens
0845-1015	PLENARY & THEMED SESSION 3: Emerging Therapies and Genomics 8: Dr Simon Jones (UK) - Emerging therapies for Lysosomal Storage Disorders 9: A/Prof Luke Hesson - The relevance of pharmacogenetic testing in an Australasian population 10: A/Prof Lata Vadlamudi - Genomics-guided precision treatment for epilepsy
1015-1045	MORNING TEA AND EXHIBITION
1045-1215	CONCURRENT SIG SESSIONS - SUBMITTED ABSTRACTS
	Concurrent Session 5: ASGC 7. Genetic Counsellors' experiences of implementing the mainstreaming of genomics in paediatric nephrology - Ms Ella Wilkins & Mr Yonatan Elbaum 8. Ethical implementation of automated genomic reanalysis: Patient, Professional, and Public Perspectives - Dr Danya Vears 9. Cross-cultural education in cancer genetic counselling: Insights and outcomes from a micro-credential - Prof Alison McEwen 10. A Statewide genetic testing stewardship service in Pathology Queensland: Impact and Implementation - Wins and Challenges - Dr Lindsay Fowles 11. Updated outcomes from the Parkville Familial Cancer Centre Breast Cancer Mainstream Genetic Testing Program - Catherine Beard 12. Making up for missed opportunities to clarify inherited cancer risks: experiences of receiving unexpected genetic information from the TRACEBACK program - A/Prof Laura Forrest
	Concurrent Session 6: AACG 7. Exome or genome sequencing for perinatal autopsy: A 'before and after' change-in-management study – Ms Camille Schubert 8. Transitioning to adult care, a high-risk time for complex genetic patients- early experiences of a dedicated adult genetic transition clinic – Dr Maie Walsh 9. Designing and validating a hereditary spastic paraplegia specific quality of life rating scale (HSPQoL) – Dr Sue-Faye Siow 10. Mainstreaming genetic testing for monogenic diabetes: A feasibility, outcome and validation study - A/Prof Kathy Wu 11. Mainstreaming genomics in Nephrology - Results of a new model of care in Victoria - Dr Kushani Jayasinghe 12. Enablers and barriers to a model of genetic healthcare that aligns with the preferences of autistic people – Dr Lavvina Thiyagarajan
	Concurrent Session 7: ASDG 7. What are priority indicators for determining the value of a genomic test in rare disease? – Ms Zoe Fehlberg 8. Validation of a newborn screening model using integrated multi-omics in South Australia (NEWBORNSINSA) - A/Prof Karin Kassahn 9. CFTR sequencing – Insights from the first thousand LP/P Alleles – Miss Monica Runiewicz 10. RFC1 structure and carrier frequency in an ‘Australian cohort - challenges for diagnostics and genetic counselling – Kayli Davies 11. Mass spectrometry-based proteomics in rare disease diagnosis – Teresa Zhao 12. Advancing mitochondrial disease diagnosis with quantitative proteomics – Liana Semcesen
	Concurrent Session 8: ASIEM 5. Clinical, biochemical, and radiologic profiles of Filipino patients with 6-pyruvoyl-tetrahydrobiopterin synthase (6-ptps) deficiency and their neurodevelopmental outcomes – Dr Leniza Hamoy 6. Long-term survival in methylmalonic academia, a case report – Dr Liza Phillips 7. Empagliflozin use in an infant with glycogen storage disease type IB – Dr Rebecca Quin 8. Return to age-appropriate oral feeding and growth trajectory in an infant with OTC deficiency presenting with severe hyperammonaemia at birth – Ms Annabel Comerford
1215-1315	LUNCH, EXHIBITION & POSTERS
1215-1315	Annual PERSYST Meeting
1315-1400	SUTHERLAND LECTURE - Dr Aideen McInerney-Leo Integrating Genomics into Medicine
1400-1530	CONCURRENT SESSIONS
	PLENARY & THEMED SESSION 4: Multidisciplinary Approaches to Health and Wellbeing 11: Dr Rhona Macleod (UK) & Ms Mariangels Ferrer (UK) - Enhancing genetic counselling and supervision in the genomic era: drawing ideas from Narrative Therapy (NT) 12: Prof Andrew Mallett - Implementing genomics and models of care for inherited kidney disease - The KidGen Consortium 13: Ms Linda Humphreys - Flourishing in healthcare – Taking the “eyeroll” out of reflection
	Allied Health Workshop Outcome of a 4-year-old boy with carnitine-acylcarnitine translocase (CACT) deficiency following elective adenotonsillectomy and subsequent multiple episodes of cardio-respiratory arrest – Dr Kalliope Demetriou Management of fasting LCFAOD
1530-1600	AFTERNOON TEA AND EXHIBITION
1600-1700	CONCURRENT TOP ORAL SESSIONS
	Oral Session 1 1. Scalable automated reanalysis in rare disease: achieving high performance while limiting curation burden in diverse clinical and research cohorts - Zornitza Stark 2. Risk of overcalling in genomic screening: avoiding the autoclassification trap - Sebastian Lunke 3. PBMCS as a minimally invasive sample for ultra-rapid functional test using high throughput quantitative proteomics - Daniella Hock 4. Prenatal cell-free DNA screening for common aneuploidies, microdeletions and monogenic autosomal dominant conditions - Tristan Hardy
	Oral Session 2 5. “The storm is coming, get prepared now”: Perceptions of south Asian Australians towards genetic testing for cardiovascular disease - Vaishnavi Nathan 6. Australian patients’ experiences of undergoing whole exome sequencing for fetal structural anomaly - Sarah Long 7. Barriers to participating in adult population DNA screening in Australia: A study of decliners and delayers - Jane Tiller 8. Involve Australia – an innovative and systematic approach to community involvement in genomic research - Keri Finlay
	Oral Session 3 9. CRISPR/DCAS9 activation in patient cells: Paving a new way for RNA variant reclassification - Emmylou Nicolas-Martinez 10. The genetic aetiology of cerebral palsies: Insights from the Australian cerebral palsy biobank cohort - Clare Van Eyk 11. The Magpie Study: Multi-cancer genomic risk assessment to target screening in general practice -Georgia Ramsay 12. Equitable testing and screening for cystic fibrosis in Australians of diverse genetic ancestry - Leslie Burnett
	Oral Session 4 13. BiXX inheritance - a proposed new model of inheritance in genetic illness - Shuxiang Goh 14. Effect Size analysis of Cipaglucosidase Alfa plus Miglustat versus Alglucosidase Alfa in enzyme replacement therapy-experienced adults with late-onset Pompe Disease - Drago Bratkovic 15. Re-evaluating the clinical validity of hypertrophic cardiomyopathy genes - Sophie Hesper 16. The national genomic autopsy study: a summary of results, outcomes and instructive families from 406 trios/quads - Christopher Barnett
1800 for 1830 start to 2300	CONFERENCE DINNER @ SEAWORLD Buses depart GCCEC at 1800

Tuesday 13 August

0800-1400	Registration Desk open
0830-1400	Exhibition Opens
0900-1030	PLENARY & THEMED SESSION 5: Showcasing Cancer Genetics 14: A/Prof Maaike Vreeswijk (Netherlands) - Breast Cancer Genetics in Perspective: Increasing Knowledge Reveals Growing Complexity in Variant Interpretation 15: Dr Justine Clark - Aboriginal sovereignty and benefit in precision oncology: What is required? 16: A/Prof Kathy Tucker AO - A clinical cancer geneticist’s perspective of Precision Oncology - the past, present and future
1030-1100	MORNING TEA AND EXHIBITION
1100-1145	HGSA ORATION - Distinguished Prof Lyn Griffiths AM From the Frontlines of Translational Molecular and Population Genetics
1145-1245	HGSA AGM & Certificate Presentations This is open to HGSA members only
1245-1400	LUNCH, EXHIBITION & POSTERS Exhibition & Posters close at 2pm. All Posters must be removed by 2pm.
1400-1530	PLENARY & THEMED SESSION 6: Variant Interpretation; Resolving Uncertainty 17: Dr Steven Harrison (USA) - Variant interpretation – resolving uncertainty (a problem of this generation) 18: Dr Alan Rubin - Enabling clinical translation of high-throughput functional assay data 19: Dr Emmanuelle Souzeau - Clingen Glaucoma Expert Panel curation guidelines improve the classification of MYOC-associated glaucoma variants
1530-1600	Closing Ceremony & Award Presentations 2025 ASM Presentation