A recap and final thoughts on HVP6 from John Burn and Raj Ramesar

1. Final thoughts
John Burn and Raj Ramesar

2. Thanks
Global Variome Ltd
Elaine Warburton OBE
CEO QuantuMDx ltd

3. 3
• standards &
nomenclature
• Facilitate
• Support..integration
• Research…variome
• Strengthen capacity
• Sharing...equitable..
..sustainable
@variomeproj
#HVP6
BRCA Challenge & GG2020

4. 4
• GA4GH
• BRCA Challenge
– BRCA Share UMD/Quest &
Labcorp
– BRCA Exchange
LOVD,Clinvar, Enigma,
CIMBA/ Astra Zeneca
@variomeproj
#HVP6
Cancer Genetics

5. BBRCA Challenge Steering Committee
Sir John Burn, Newcastle University (United Kingdom) – Co-Chair
Stephen Chanock, National Cancer Institute (United States) – Co-Chair
Antonis Antoniou, University of Cambridge (United Kingdom)
Larry Brody, National Human Genome Research Institute (United States)
Fergus Couch, Mayo Clinic (United States)
Johan den Dunnen, Leiden University Medical Center (Netherlands)
Susan Domchek, University of Pennsylvania (United States)
Douglas Easton, University of Cambridge (United Kingdom)
William Foulkes, McGill University (Canada)
Judy Garber, Dana Farber Cancer Institute (United States)
David Golgar, Huntsman Cancer Center (United States)
Robert Nussbaum, University of California, San Francisco (United States)
Ken Offit, Memorial Sloan Kettering Cancer Center (United States)
Sharon Plon, Baylor College of Medicine (United States)
Nazneen Rahman, Institute of Cancer Research (United Kingdom)
Heidi Rehm, Harvard Medical School (United States)
Mark Robson, Memorial Sloan Kettering Cancer Center (United States)
Wendy Rubinstein, National Institute of Health (United States)
Amanda Spurdle, QIMR Berghofer Medical Research Institute (Australia)
Dominique Stoppa-Lyonnet, Curie Institute (France)
Sean Tavtigian, University of Utah (United States)
5
UNESCO Paris June 2015
Gunnar Ratsch

6. BRCA Exchange Community
Brcaexchange.org: community space:

7. GLOBAL GLOBIN 2020 CHALLENGE
Developing capacity for gene variant data sharing in
in low & middle income countries
UNESCO
30-31 MAY 2016
Zilfalil bin Alwi Raj Ramesar
Malaysia South Africa
Sickle Cell Disease G6PD
Thalassemias

9. • Bigger burden of disease than HIV/TB put together
• Genetics sorted out in the last century
• Made little difference in developing countries
SCD cause by homozygosity of the beta globin S gene mutation
So what’s different now?
• 200 000 – 300 000 children under 5 y die annually
‘ From the biggest genetic disorder on the planet’
Genetics/biology has been known for decades
Genetic scientists have been ‘fiddling while Rome has been burning’
Health Systems Deficiency

10. Origins of humanity
Human diversity related
to migration and
adaptation to
environment
Current burden of disease
1.111 billion citizens
Raj Ramesar
NATURE
Africa Genome Variation Project

11. +
+
The Health and Welfare of Developing Countries

12. 12
MEMBERS – 2016
• 40 COUNTRIES
• 62 PARTICIPANTS
• 20+ PARTNERS, EXPERTS
Before workshop (30-31 May)
After workshop: TIF, Euro Net, African Network, S America
Global Sickle Cell Dis Network > 140 countries

13. 8 sessions
• Session 1: Understanding GG2020 Challenge
co-chairs: Prof Raj Ramesar & Prof Z B Alwi
Cyprus Case Study
Dr Carsten Lederer
• Session 2 – 5: The current situation GG2020 in different parts
of the world –
Africa: Prof Raj Ramesar, Prof Leon Tshilolo, Dr Tite Mikobi, Prof Jacques Elion
Europe: Prof Beatrice Gulbis, Prof Jacques Elion, Dr Domenico Coviello, Dr
Carsten Lederer, Dr Petros Kountouris, Prof Johan den Dunnen

14. Session 2 – 5
• Americas: central & south ;Prof Aida Falcon de Vargas, Dr Mike Watson
ClinGen/ClinVar and GG2020
• Central Zone / Middle East:Dr Ghada El Kamah, Dr Qasim Ayub, Dr Ali Taher
• Asia: Prof Narazah Mohd Yussof, Prof Zilfalil Alwi, Prof Carmencita Padilla, Dr April
Berbosa

15. ELSI issues for GG2020
• Ms Helen Robinson; What others are doing, Lessons from
BRCA, What are the issues for GG2020

16. Funding, Sharing Resources,
Partners
• WHO: Dr Marie-Charlotte Bouesseau, Dr Micheal Stouffs
• UNESCO: Dr Casimiro Vizzini
• NIH: Summit in Human Genetics and Genomics
Dr Mike Watson
• March of Dimes: Dr Joe Leigh Simpson
• TIF: Dr Carsten Lederer
• ENERCA: Dr Joan Corrons / Prof Jacques Elion
• Gates Foundation

17. 17
• Practical steps of developing/adopting LOVDs through database working
group underway
• Recommendations/policies re Haemoglobinopathies devised by
Sir David Wetherall for WHO – serve as reference
• relationship: HVP+UNESCO+WHO+ Health and Welfare of Developing Countries
• Networks will be facilitated through the WHO’s 5 Collaborating Centres
South America, India, East Asia, Mediterranean, N America, Africa
• WHO requested setting up of a meeting in sub-saharan Africa encourage
networking of African partners (late 2016-early 2017)
In Summary:

20. Au revoir