Friday 18th November - 19:00 - 22:00
Speakers Dinner at La Mint Restaurant
Saturday 19th November - 9:30 - 17:30
8:30 - 9:30 Arrival and registration
9:30 - 9:45 Welcome & Introduction by Chair
9:45 - 10:00 Plenary 1: Patient story
Objective: Brings purpose to test, highlights their journey, difficulties and sets the stage for why we need to get this test right
10:00 - 10:20 Orientation to the genome
Objective: contemporary insights into genomic structure, variation and complexity (for a genetic specialist audience).
10:20 - 11:10 Genomic medicine – current status of genetic testing.
Objective: Analysis of strengths and weaknesses of current platforms and testing modalities (single gene tests, microarrays, panels, WES vs WGS). Look at how emerging technologies will overcome current limitations. When do I use what?
11:10 - 11:30 Morning Tea
11:30 - 12:30 Case Studies: Diagnosis to actionable outcomes
- Sharing examples of actionable patient outcomes from genetic and genomic diagnoses
- Demonstration or illustration of actionability across different disciplines
- Discussion of best practices and challenges that enabled a diagnosis in different contexts
12:30 - 13:30 Delivering results: patient expectations and experiences
- Experiences of genetic counsellors with genomic testing
- Insights into patient expectations around genome-wide sequencing and uncertainty
13:30 - 14:30 Lunch
14:30 - 16:00 Lessons from cohorts
- Pathways used to sequence larger cohorts.
- Compare and contrast best practices with different communities.
16:00 - 17:00 International Plenary: Dr Stephen Kingsmore
18:30 - 22:30 Social dinner function at the Bridge Marquee @ Pier One Sydney Harbour
Sunday 20th November - 9:00 - 13:30
9:00 - 11:00 Translation of genomic findings for patients
Objectives: How do you trust/assess the result you have been given? How variants are being curated. How is genomics hitting the clinic?
11:00 - 11:20 Morning Tea
11:20 - 12:20 International Plenary: Dr Richard Scott
12:20 - 13:20 Panel discussion with Q&A: When should sequencing be applied to a patient’s journey?
13:20 - 13:30 Wrap up and future perspectives