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Preliminary Program

Preliminary Program

 

Key discussion areas will include:

  • Contemporary contexts and challenges in clinical genomics 
  • Mainstreaming/genetics and genomics beyond the genetics clinic
  • Ethics – where are the guidelines (and do we need more) for clinical genomics practice
  • Genomics, screening and personalised prevention 

 

Thursday 16th November

19:00 - 22:00   Speakers' Dinner  


Friday 17th November

8:00 - 9:00     

Arrival and registration

Tea & coffee / Breakfast

 

9:00 - 9:15

Welcome

 

Contemporary contexts and challenges in clinical genomics

 

9:15 - 10:00

Plenary Session

Prof. Fowzan Alkuraya

10:10 - 10:30

Mosaic Disorders

tbc

10:30 - 10:50

Polygenic risk scores

Paul James

10:50 - 11:20

Morning Tea and Networking

 

11:20 - 11:30

Development of a National Functional Genomics Network

Brandeis McBratney-Owen

11:30 - 11:50

Molecular Autopsies

Hamish Scott

11:50 - 12:30

tbc 

Sebastian Lunke

Ben Lundie

Mark Davis 

12:30 - 13:00 

Digital integration of genomics into medicine [Discussion]

 tbc

13:00 - 14:00

Lunch and Networking

 

Ethics – where are the guidelines (and do we need more) for clinical genomics practice

14:00 - 15:00

Cases and panel discussion around the need for guidelines and process for return of results in a clinical setting

 tbc

 15:00 - 15:30

Afternoon tea and Networking

 

Mainstreaming/Genetics beyond the Genetics Clinics  

15:30 - 17:00

 tbc

Chris Semsarian

Andrew Mallett

Katherine Howell

Melanie Wong

Mary-Anne Young 

17:00 - 17:45 

Future models of genetic services - the 10 year model [Panel]

Clara Gaff

John Christodoulou

Marcel Dinger

Mary-Anne Young

Hamish Scott

Nigel Laing

Les Biesecker

Fowzan Alkuraya

18:15 - 22:00 Social dinner function (all guests, included in registration)  
        

Saturday 18th November

8:00 - 9:00

Breakfast and Networking 

 

Genomics, screening and personalised prevention

9:00 - 10:00

Plenary Session

Les Biesecker

10:00 -10:20

Preconception carrier screening in the age of genomics 

Nigel Laing 

10:20 - 10:40

Genome.One personal health genomics pilot 

Mary-Anne Young 

10:40 - 11:10

Morning Tea and Networking

 

11:10 - 11:30

MGHA Deafness flagship study

David Amor

11:30 - 11:50

Secondary analysis offered to healthy parents who have been sequenced as part of trios

Elly Lynch 

11:50 - 12:10

Revising analysis pipelines for the testing of healthy individuals 

Sebastian Lunke 

12:10 - 13:00

Wrap up and future perspectives [Panel]

Les Biesecker

Fowan Alkuraya

Nigel Laing

Mary-Anne Young

David Amor

Elly Lynch 

Sebastian Lunke 

13:00 - 14:00

Lunch and Networking

 

Final titles to be confirmed 

 

 

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