Special Interest Group Meetings - Saturday 10 August 2024

Times are based on QLD AEST (GMT +10)
Note: SIG Meetings will be Live Streamed (subject to virtual numbers). ASGC, ASDG & ASIEM SIG Meetings will be recorded and available on-demand post conference (these will be available approx. 2-3 weeks post meeting).

AACG SIG Meeting

8.55 Welcome
9.00 Invited Speaker Presentation: Dr Karen Gripp - Fetal Fentanyl syndrome
9.45 Clinical cases session

110.30 Morning Tea

11.00 Dr Cathryn Rose, “The Life and Death of POSSUM”
11.45 Clinical case session 2

12.30 Lunch

13.30 AACG Business Meeting
14.30 Clinical cases session 3

15.00 Afternoon tea

15.30 Clinical cases session 4
16,00 Meeting close.

ASIEM SIG Meeting

0830-0900 Invited Speaker Presentation: Harmonisation of NBS in Australia / New Zealand – Dr Natasha Heather

0900 – 1030 Submitted Abstracts:
0900 The Pitfalls of Genomic Newborn Screening - Ms Pauline McGrath
0915 Incorporating 21-deoxycortisone as an additional screening marker can improve the sensitivity of newborn screening for congenital adrenal hyperplasia - Mr Mark De Hora
0930 Newborn Screening for Duchenne Muscular Dystrophy: Development of a scoping study - Miss Sarah Shin
0945 Assessing the model of care for newborn screening notification of medium-chain ACYL-COA Dehydrogenase Deficiency through the Queensland Metabolic Medicine Service - Ms Sally-Anne Smith
1000 Use of biochemical and molecular methods for the diagnosis of a case of Hypoxanthine-Guanine Phosphoribosyl Deficiency - Francesca Moore
1015 PHE to Me - A Streamlined, Family-Centred approach to Phenylketonuria (PKU) blood result reporting - Mrs Aoife Elliott

1030 – 1100 Morning tea

1100 Invited Speaker Presentation: Measuring precision and reliability in dietetic research – A/Prof Melanie Gillingham

1140 - 1230 Submitted Abstracts
1140 APHENITY extension study dietary PHE Tolerance Assessment design using 3-day diet records: an interim report - Ms Emma Clover
1155 Dietary Management in MPV17-Related depletion syndrome pre- and post-liver transplant: A Case Study - Ms Kiera Battan
1210 Retrospective medical record review of adherence to Sapropterin Therapy in children and adults with Phenylketonuria (PKU) through the lifespan - Janette Spicer

1225 – 1330 Lunch

1330 Invited Speaker Presentation: The management and treatment challenges of MPS IIIA - Dr Simon Jones

1410-1500 Submitted Abstracts:
1410 Biochemical testing for sorbitol dehydrogenase deficiency in neuropathy patients - Dr James Pitt
1425 Cytosolic PEPCK deficiency; further delineation of the phenotype and genotypic spectrum - Isaac Bernhardt
1440 Improved quantitation of dried blood spot amino acids by LC-MS for monitoring of patients with Maple Syrup Urine Disease (MSUD) - Mr Alberto Francescon

1500-1530 Afternoon tea

1530-1600 Submitted Abstracts
1530 Challenges of protein restricted diets for culturally diverse patients with oat - Mrs Clare Williams
1545 Current training and educational resources available in Australia and New Zealand for metabolic nurses - Ms Catherin Attow

1600-1700 ASIEM AGM

ASDG SIG Meeting

0900-1030 SESSION 1 - Invited Speaker Presentation & Submitted Abstracts

0900-0945 International invited speaker - Dr Steven Harrison
ACMG/AMP/CAP/ClinGen Standards for Sequence Variant Classification v4.0

0945-1030 Submitted Abstracts (Survey/Workforce)
1. Exploring stakeholder views and insights for clinical accreditation of Polygenic Risk Scores in Australia – Tenielle Clinch
2. Measuring benefits and workload from data sharing: a laboratory perspective - Manny Jacobs
3. Comprehensive Analysis of the Australasian Diagnostic Genomics Workforce: Demographics, Education, and Future Trends – Ben Lundie

1030-1100 Morning tea

1100-1230 SESSION 2 - Submitted Abstracts (Variant Curation 1)
1. Implementation of the Genomic Annotation Interpretation Application (GAIA-VarPhetcher) Platform in a diagnostic Massively Parallel Sequencing Service – Dr Futao Zhang (for Dr Ying Zhu)
2. Structured evidence in the National Shariant Platform informs potential clinical impact of new ACMG/AMP recommendations – Emma Tudini
3. "Do current variant interpretation guidelines adequately assess all types of variants? Examples from a cohort of individuals with mitochondrial disease” – Miss Leah Frajman
4. Transposable elements (TE) in the pathophysiology of Parkinson’s disease - Prof Sulev Koks
5. A Tale of Jumping Variants: Unexpected findings from WGS Data – Dr Ain Roesley
6. Transdifferentiation of Human Dermal Fibroblasts to iNeurons for Variant Studies – Miss Olivia Robinson

1230-1330 LUNCH

1330-1415 SESSION 3 – Submitted Abstracts (Early career session)
1. Prioritisation of difficult to clinically evaluate cancer-associated germline variants – Dr Aimee Davidson
2. Going beyond driver genes in the quest to make better differential diagnosis of myeloproliferative neoplasms: observation from a Pakistani cohort – Dr Rifat Ahmed
3. Validation and implementation of MLH1 promoter methylation analysis by methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) inFFPE DNA – Mrs Anju Shine Koshy

1415-1500 ASDG AGM

1500-1530 Afternoon Tea

1530-1700 SESSION 4 - Submitted Abstracts (Cytogenomics)
1. Validation of an X-chromosome inactivation (XCI) assay highlights the need for genetic testing to be tailored to specific ancestry – Miss Sabine Grey
2. Defining potential inequities in the design and analysis of clinical chromosomal microarrays in Aotearoa – Dr Ben Halliday
3. Reeling in the Future: Fluorescence In Situ Hybridisation (FISH) Remains a Vital Tool in Modern Cytogenetic Testing – Dr Racha El-hajj Ghaoui
4. Assessment of placental mosaicism during prenatal cell-free dna screening refines positive predictive values for fetal trisomy – Nicola Flowers
5. Assessing the utility of nanopore sequencing for preimplantation genetic testing of aneuploidy – Vivianne Oltramare
6. CXGo : A Scalable Interpretation Tool for Copy Number Variants in Genomic Data – Dr Simon Sadedin

ASGC SIG Meeting

0830-0840 Welcome

0845-0945 Invited Speaker: Linda Humphreys. Reflective Practice

0945-1030 Selected Oral Presentations

0945 Direct contact of relative by health professionals to facilitate genetic risk communications: Views of Australian patients - Dr Jane Tiller
1000 Patients' experiences of being recontacted with new clinical information in a clinical genetics settings - Katrina Monohan & Tiffany O'Brien
1015 Exploring the journey to genetic services: A qualitative study of parental perspectives of children with rare disease - Mrs Amy Clark

1030-1100 Morning Tea

1100-1200 Interesting Cases:

Exploring the complexities of genetic counselling in Preimplantation Genetic Testing (PGT) - Mrs Nikki Kliskey
When a sense of urgency subverts typical clinical practice and things go bad. Phenomenon of urgency in adult neurogenetics - Ms Kirsty West
Crisis counselling for fetal sex discordance - Ms Lauren Thomas
“Can you test my daughter without me being tested?” A request made by a mother with breast cancer - Ms Wing Yiu Chu

1200-1230 Workshop Introduction: Narrative therapy, supervision

1230-1330 Lunch

1330-1445 Workshop: Narrative Approach to Supervision and Practice - Invited Speakers: Rhona McLeod and Mariangels Ferrer
1445-1500 Interesting Case: Family Communication: An ethically challenging case - Bree Ryan

1500-1530 Afternoon Tea

1530-1630 Invited Speaker: Ali Mills, Grief Australia - Grief and Loss

1630-1700 Judith Elber Lecture - Pauline McGrath