1. www.humanvariomeproject.org/GG2020 GLOBAL GLOBIN 2020 CHALLENGE DEVELOPING CAPACITY FOR VARIANT DATA SHARING IN LOW & MIDDLE INCOME COUNTRIES GENERIC SLIDES NOVEMBER 2015

2. www.humanvariomeproject.org/GG2020 Presentation outline 1.Background - What is HVP? 2.Why haemoglobinopathies? 3.The Global Globin 2020 Challenge Why now? How it will be done Why it is important 4.GG2020 – promoting genomic capacity in low and middle income countries Important partnerships 2

3. www.humanvariomeproject.org/GG2020 What is HVP? The Human Variome Project (HVP) is an international non-governmental organisation working to build capacity in the practice of responsible genomics. To ensure that this contributes to improving global health outcomes, HVP focusses on increasing both the quality and quantity of genomic knowledge that is collected, curated, interpreted and shared for clinical practice. HVP is also an umbrella organisation across multiple countries, institutions and initiatives to establish collaboration around its central vision—the responsible, free and open online publishing of the international consensus on genomic variant pathogenicity.

4. www.humanvariomeproject.org/GG2020 What is HVP? Cont. Unique genetic variants are uncovered every day in diagnostic labs, clinical centres and research institutions around the world. HVP recognises the importance of sharing high quality genetic variation data to expedite the diagnosis and treatment of patients with genetic diseases worldwide. HVP is an active and growing Consortium of over 1,100 individual researchers, healthcare professionals, policy makers, and organisations from 81 countries that collaborate to develop and maintain the necessary standards, systems and infrastructure to support global-scale genomic knowledge sharing. HVP uses two main mechanisms to achieve growth in the responsible, free and open online publishing of the international consensus on genomic variant pathogenicity : One is to support countries to develop their own capacity to generate and contribute their own variant information. The other is to support international groups formed around specific genes or diseases to do the same.

5. www.humanvariomeproject.org/GG2020 Global Globin 2020 Challenge GG2020 is a project-wide initiative of HVP* Focus on common genetic disorders in low and middle income countries Designed to build capacity for genomic diagnosis and clinical services and research Project leaders are  Prof. R Ramesar, Division of Human Genetics, Dept of Clinical Laboratory Services, University of Cape Town, South Africa  Prof. Z bin Alwi, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, Malaysia It was launched in early 2015 * BRCA Challenge is another project-wide initiative of HVP with GA4GH

6. www.humanvariomeproject.org/GG2020 Why haemoglobin disorders? Focus on inherited haemoglobin disorders, haemolytic disorders Burden of disease – based on Modell and Darlison 2008 Broad impact using under 5 mortality - 3.4 % of deaths But this underestimates as impact on families is ignored Disproportionate numbers in low-income countries Variation across different parts of the world, different sub-populations, cultural groups- mortality rate in west Africa – 18.4 %; carrier status 1 in 4; 15 % in Cyprus Impact of global migration patterns is making it an issue for most countries Focus on children under 5 years is important Potential for cost–savings to health systems, ease of suffering Variation in capacity to plan, introduce, support services in different parts of the world 6

7. www.humanvariomeproject.org/GG2020 INSERT SLIDE HERE ON MEXICAN – LATIN AMERICAN SITUATION ON VARIANTS/DISEASE

8. www.humanvariomeproject.org/GG2020 GG2020 Challenge explained Project Goals: 1.To see growth in the quality and quantity of curated inputs from low and middle-income countries into internationally recognized genetic databases. Tackling haemoglobinopathies is an ideal entry point for these countries to develop the necessary infrastructure and expertise that can expand into other areas 2.To harmonize the sharing of all relevant genetic data between countries in accordance with international best practice that includes all the relevant ethical and regulatory frameworks and policies required to serve and protect patients at the same time the biotechnical systems and procedures are developed 3.To ensure that the storage, curation and sharing of the relevant DNA variation information is sustainable in the medium and longer term by expanding and strengthening the international network of professionals, including curators, researchers, clinicians, bioinformaticians, counsellors, patients groups and health bureaucrats – particularly those from low and middle-income countries 8

9. www.humanvariomeproject.org/GG2020 GG2020 Challenge explained cont. At the same time this will Raise the profile of genomic medicine in low and middle income countries among health bureaucrats in national, regional and international health organizations Develop the capability of health professionals required for diagnosing, treating and counseling carriers in low and middle income countries thus giving them a greater voice and profile among genomic researchers and clinicians globally so they can actively participate in regional and international partnerships related to ⁻genomic medicine research and ⁻innovative health service delivery in low resource settings Put greater emphasis on prevention and cost-effectiveness in Primary Health Care 9

10. www.humanvariomeproject.org/GG2020 How will it be done? Put together three groups of people: 1.who generate the data 2.those who look after the data, plus 3.those who use the data for clinical purposes. We already know that a small number of countries in the world are already very successful in doing this – what can we learn from them? To develop harmonized practices and approaches for open, transparent data sharing within and between countries 10

11. www.humanvariomeproject.org/GG2020

12. How will it be done? cont This project will not duplicate the work of other bodies and organizations already tackling haemoglobinopathies - the relevant individuals, bodies and agencies already working in the field will be actively included in the project. Work bottom-up through local groups at national level- identifying relevant data, partners and top-down through international data sharing and networks of researchers, diagnosticians, clinicians to harmonise and guide their activities. International cooperation and collaboration will result in optimal translation of locally-relevant genomic information according to best clinical utility and practice. 12

13. www.humanvariomeproject.org/GG2020 GG2020 activities – two levels of action AT NATIONAL/COUNTRY LEVELAT INTERNATIONAL/REGIONAL LEVEL Identify who is working in the field – researchers, diagnosticians, clinicians Identify ‘safe havens’ for data = recognized curated databases Identify who is generating data on haemoglobinopathies - who keeps this data now? Apply internationally agreed nomenclature, data standards, file formats etc Determine who will use the dataLink with international user groups, collaborators, researchers etc. Create a national group –formal or informalReview data access models to determine suitability Ethics, conflict of interest – identify local regulations and requirements – privacy, consent for example Harmonise with already agreed privacy, consent processes Identify other partners – patient groups, counsellors, public health officials – already existing/planning Contribute to interpretation of pathogenicity; genotype/phenotype alignment Determine level of interest at local and national government level – Ministry of Health/ WHO Contribute to global epidemiological surveys and other knowledge And …. 13

14. www.humanvariomeproject.org/GG2020 Establishing national baseline STEPS AT COUNTRY LEVEL Determine size of the problem in your country Determine the common mutations and variants and their relative prominence Document the nature and level of diagnostics services currently available, including DNA/mutation analysis, molecular diagnosis Determine to degree of national co-ordination and planning – MOH focal point? Determine bodies involved in dealing with ethical, social, legal issues – consent, privacy, Are there any screening services – in use, or could be used Level of professional education available in human genomics – for nurses, diagnosticians, doctors, diagnosticians, counsellors - level of interest? Is there a current research agenda involving haemoglobinopathies – national and international links And … 14

15. www.humanvariomeproject.org/GG2020 CATEGORISING NATIONAL RESPONSES TO HAEMOGLOBIN DISORDERS (ref WHO 2008) A Countries where services are well established with a national system for prevention and control B Countries where some elements of a national control program exist but it is not available to all; more efforts is needed in areas like i) improving access to services ii) raising awareness among families and patients, health professionals and community in general iii) establishing national centres of excellence/expertise to provide advice, measure progress iv) ensure that savings from disease prevention are returned back to expand and improve services C Countries where expertise in diagnosis, treatment, management and prevention exists but is not part of a sustainable national control program D Countries where services are limited or not available

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17. www.humanvariomeproject.org/GG2020 Baseline for international collaboration LEVEL OF ACTIVITY BETWEEN COUNTRIES Increasing awareness among international health community of haemoglobinopathies Use haemoglobinopathies as an entry point for solving issues about international data sharing Promote use of internationally accepted standards – nomenclature, quality, protections Raise the profile of human genetic and genomics tools and advances, build local expertise Harmonise efforts in different countries and regions of the world – various groups in Central and South America, SE South and East Asia, Middle East, Australasia, Africa, EU Create a comprehensive research agenda Strengthen health system response to human genetics and genomics in all countries and low and middle income countries in particular by finding cost-effective solutions Adhere to international agreements for dealing with human genetic material And … 17

18. www.humanvariomeproject.org/GG2020 Issues arising from this The past ten years has told us – fragmented, competitive world of human genomics Need for more collaboration –moving from a competitive era into a more harmonised, sustainable one Diversity of practice in different parts of the world can offer innovative solutions Need to develop strategies that are possible in resource poor environments Shift research agenda towards health systems responses to genomic medicine Equity of access – making sure poor families can access services Countries with limited resources must be considered Availability of direct-to-consumer services, increased commercialization must be managed properly 18

19. www.humanvariomeproject.org/GG2020 HVP’s MOU with WORLD HEALTH ORGANIZATION Initially, the issues to be focused on include: 1.The ethical and regulatory issues arising from international sharing of human genomic and genetic information; 2.The development of cost-effective, safe and quality health services in low/middle income countries arising from the application of innovations in human genetics and genomics to disease; 3.The need to build capacity in low/middle income countries to support the delivery of these innovative, cost-effective services; 4.The need to raise awareness in human genomics and genetics among public health officials, particularly in Ministries of Health 19

20. www.humanvariomeproject.org/GG2020 HVP and UNESCO HVP is a recognized partner of UNESCO – an NGO with operational status Currently working on promoting and raising profile of International Conventions relating to Human Genomics in the field – focus on ethics and harmonization of practice between countries Raising importance of human genomic research and building capacity in middle and low income countries Contribute to various UNESCO bodies dealing with biomolecular research, ethics 20

21. www.humanvariomeproject.org/GG2020 For more information 1.Visit the web-site - below 2.Contact 1.Project Leaders Prof Raj Ramesar, Prof Zilfalil bin Alwi 2.Project Administrator – Helen Robinson hmro@unimelb.edu.au 3.View country checklist – on web-site 4.CONTACT YOUR NATIONAL FOCAL POINT - INSERT 5.Join HVP at www.humanvariomeproject.orgwww.humanvariomeproject.org

22. www.humanvariomeproject.org/GG2020