An overview of the Global Globin 2020 Challenge

1. www.humanvariomeproject.org/GG2020
GLOBAL GLOBIN 2020 CHALLENGE
Developing capacity for gene variant data sharing in
in low & middle income countries
UNESCO
30-31 MAY 2016

2. 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
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3. www.humanvariomeproject.org/GG2020
Situational analysis
According to WHO, current estimates are –
• About 7 % of the global population carries an abnormal haemoglobin gene; in African region many
countries have 10 – 40% of the population carrying the gene, giving an estimated SCD prevalence of 2%;
In countries such as Cameroon, Republic of Congo, Gabon, Ghana and Nigeria the prevalence is between
20% to 30% while in some parts of Uganda it is as high as 45%
• Between 300,000 and 500,000 children are born with clinically identifiable and significant haemoglobin
disorders each year
• Approximately 80% of affected children are born in countries classified as low income
• Of those affected children an estimated 70-80 % will have SCD and the rest will have some form of
thalassaemia; it is the most prevalent genetic disease in African region
• Between 50 and 80% of children with SCD dies each year in LMICs; about 50 -80%of the 400 000babies
born with SCD each year in Africa will die before they are 5 yo
• Between 50, 000 and 100, 000 of children with thalassaemia major die each year in LMICs
WHO (2002, 2006a, 2008)
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4. www.humanvariomeproject.org/GG2020
The problem is increasing
Several factors are driving increased numbers in the foreseeable future –
1. population growth
2. lack of good management of cases and
3. migration of people across various regions of the world.
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5. www.humanvariomeproject.org/GG2020
Mismatch between problem and solutions
The challenge is
• Views of these diseases need to be up-dated; much has been learned in recent
years about their underlying morphology and how to successfully manage
treatment
• While much is known, it needs to be more systematically applied
• Inequitable access to safe and appropriate genetic services in many parts of the
world
• According to TIF and WHO there is great heterogeneity in approaches among
different regions and countries of the world
• According to WHO (AFRO, 2008) laboratory facilities for accurate diagnosis are
limited; there are too few adequately trained health professionals
• Despite high profile interventions in 2008 at UN and adoption of a resolution at
UNGA, plus several resolutions of the WHA, investment in prevention and
management remains inadequate
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6. www.humanvariomeproject.org/GG2020
What needs to be done
1. Raise the profile of hereditary haemoglobin disorders on the agenda of Ministries of
Health, particularly those in low and middle-income countries
2. Ensure that advances in human genomics, including simple molecular technologies for
disease control, are integrated into new innovative models for PHC and service delivery
3. Apply these new techniques to strengthen prevention and cost-effective service delivery
4. Achieve this through inter-country co-operations and knowledge sharing – south-south
and south-north
5. See approaches to addressing haemoglobinopathies as a means of addressing
broader issues of integrating genomics into health care
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7. 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
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8. www.humanvariomeproject.org/GG2020 8
MEMBERS – 2016
• 40 COUNTRIES
• 62 PARTICIPANTS
• 20+ PARTNERS, EXPERTS

9. 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.
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10. www.humanvariomeproject.org/GG2020
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.
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11. www.humanvariomeproject.org/GG2020
GG2020 – two levels of action
AT NATIONAL/COUNTRY LEVEL AT 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 data Link with international user groups, collaborators,
researchers etc.
Create a national group –formal or informal Review 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 …. And ….
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12. 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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13. 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 …
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14. 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 …
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