Final thoughtsJohn Burn and Raj Ramesar

ThanksGlobal Variome LtdElaine Warburton OBECEO QuantuMDx ltd

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• standards &

nomenclature• Facilitate• Support..integration• Research…variome• Strengthen capacity• Sharing...equitable..

..sustainable

@variomeproj#HVP6

BRCA Challenge & GG2020

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• GA4GH

• BRCA Challenge– BRCA Share UMD/Quest &

Labcorp– BRCA Exchange

LOVD,Clinvar, Enigma, CIMBA/ Astra Zeneca

@variomeproj#HVP6

Cancer Genetics

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BBRCA Challenge Steering CommitteeSir John Burn, Newcastle University (United Kingdom) – Co-ChairStephen Chanock, National Cancer Institute (United States) – Co-ChairAntonis 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)

UNESCO Paris June 2015

Gunnar Ratsch

BRCA Exchange Community

Brcaexchange.org: community space:

GLOBAL GLOBIN 2020 CHALLENGEDeveloping capacity for gene variant data sharing in

in low & middle income countries

UNESCO 30-31 MAY 2016

Zilfalil bin Alwi Raj RamesarMalaysia South Africa

Sickle Cell Disease G6PDThalassemias

• 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 decadesGenetic scientists have been ‘fiddling while Rome has been burning’

Health Systems Deficiency

Origins of humanity

Human diversity related to migration and adaptation toenvironment

Current burden of disease

1.111 billion citizens

Raj Ramesar

NATURE

Africa Genome Variation Project

+

+The Health and Welfare of Developing Countries

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MEMBERS – 2016• 40 COUNTRIES

• 62 PARTICIPANTS

• 20+ PARTNERS, EXPERTS

Before workshop (30-31 May)

After workshop: TIF, Euro Net, African Network, S AmericaGlobal Sickle Cell Dis Network > 140 countries

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

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

ELSI issues for GG2020

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

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

R E L A T I O N S H I P S

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• 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:

Au revoir