Program

Friday 18th November - 19:00 - 22:00 

19:00 - 22:00     Speakers Dinner at La Mint Restaurant (invitation only)

Saturday 19th November - 9:30 - 17:00 @ Hyde Park Room

8:30 - 9:30     Arrival and registration
                       Tea & coffee

 9:30 - 9:45      Welcome & Introduction
Prof John Mattick

A/Prof Julie McCaughran (Chair)
9:45 - 10:00      One family's journey through genomics
Danielle Williams

A/Prof Julie McCaughran (Chair)
10:00 - 10:20     Orientation to the genome
Prof John Christodoulou - "Orientation to the Human Genome and Genomic Testing: known knowns, known unknowns and unknown unknowns"

A/Prof Julie McCaughran (Chair)
10:20 - 11:00     Genomic medicine – current status of genetic testing.
A/Prof Edwin Kirk

11:00 - 11:30 Morning Tea (@foyer)

Prof David Amor (Chair)
11:30 - 12:30     Case Studies: Diagnosis to actionable outcomes
A/Prof Gareth Baynam
A/Prof Julie McCaughran
Dr Hugh McCarthy
Prof Carolyn Sue 

A/Prof Kristine Barlow-Stewart (Chair)
12:30 - 13:30      Delivering results: patient expectations and
experiences
Dr Jodie Ingles - "Patient expectations and experience - the genetic counsellor's view"
A/Prof Clara Gaff -
"Uncertainty"

13:30 - 14:30 Lunch (@foyer)

Prof Hamish Scott (Chair)
14:30 - 16:00     Scaling up genomics: best practices and lessons learnt
Prof David Thomas
Dr Zornitza Stark
Mary-Anne Young
Dr Alison Colley 

Prof Hamish Scott (Chair)
16:00 - 17:00     Charting a new course in pediatric medicine
Dr Stephen Kingsmore

18:00 - 22:00     Social dinner function at the Bridge Marquee @ Pier One Sydney Harbour (all guests, included in registration)

 

Sunday 20th November - 9:00 - 13:30 @ Hyde Park Room

8:30 - 9:30     Breakfast (@foyer)

Mary-Anne Young (Chair)
9:00 - 9:30     (Breakfast Discussion) Insights from private practice in Clinical Genetics and Genetic Counselling
Dr Michael Gattas
Ashley Crook
Dr Bernadette Hanna
Mary-Louise Freckman
 

A/Prof Gareth Baynam (Chair)
9:30 - 11:00     Translation of genomic findings for patients

Dr Karin Kassahn

Dr Sebastian Lunke
A/Prof Marcel Dinger
A/Prof Kym Mina
Dr Jodie Ingles
Dr Mike Field 

11:00 - 11:20     Morning Tea (@foyer)

Dr Cliff Meldrum (Chair)
11:20 - 12:20     The 100,000 Genomes Project Rare Disease Programme - delivering genome diagnostics in the UK National Health Service

Dr Richard Scott

Dr Cliff Meldrum (Chair)
12:20 - 13:20     When should sequencing be applied to a patient’s journey?
Prof Hamish Scott
Nicole Millis
Prof Deborah Schofield
Dr Stephen Kingsmore
Dr Richard Scott
Dr Yemima Berman
Dr Eva Pilowsky 

13:20 - 13:30     Wrap up and future perspectives
A/Prof Marcel Dinger 

 

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