An overview of the health system response to haemoglobinopathies in Nepal

1. Haemoglobinopathies In
Low And Middle Income Countries - Nepal
NHLBI – Center for Translational Research and Implementation Science
RFA-HL-17-003
GG2020 MEETING DAY 2 TUESDAY 31 MAY 2016
UNESCO SALLE IV

2. NIH /NHLBI – RFA-HL-17-003 – what is it?
• Call for application from Center for Translation Research and
Implementation Science
• Must include at least one LIC (as defined by WB)
• Five awards will be made – total of US$ 750 000 per year; max.
$ 138 000 per year for up to 4 years
• Applications due 16 June 2016
2

3. Our proposal – still in preparation
Translating what we know about best practice in utilising genomic diagnosis in haemoglobinopathies to control these
conditions in a LIC with poor resources. Build a collaborative research community for addressing the treatment, management
and prevention of three important haemoglobinopathies – thalassemia, SCD and G6PD – in Nepal.
Key objectives
1. To identify the key players required to be involved in developing and implementing such a plan within Nepal; pull
together all the necessary information and evidence regarding the epidemiology in Nepal, the disease burden and
current capacity for their surveillance through a systematic review and critical assessment of the current situation
regarding needs, infrastructure, capacity - taking 2015-2016 as the base year
2. Based on this local needs assessment of Nepal in 2015-16 – develop a country-specific plan for skills development
needed to address each of these three haemoglobinopathies including the cost-effective delivery of genomic based
diagnostic services, national database and national patient registries and new born screening services for
haemoglobinopathies in Nepal utilising
– GG2020 community – through identified country partners, and
– the key players/stakeholders identified in Nepal, including the Ministry of Health, National Society of Human
Genetics, National Bio-molecular Society and other professional associations, patients and their families
3

4. Our proposal – still in preparation
3 Identify a process of transitioning from use of external partners to progressive use of
local services as capacity is built through training and other forms of support including
the implementation of internationally agreed standards of best practice for
nomenclature, quality control of diagnosis and interpretation
4 Based on this national plan create a research strategy aimed at supporting each of
these three haemoglobinopathies including the cost-effective delivery of genomic
based diagnostic services, national database and national patient registries and new
born screening services for haemoglobinopathies in Nepal that meet international best
practice in a low resource setting.
The case of Nepal will help inform other low income countries in the GG2020 collaborative
network.
4

5. Our proposal – still in preparation
5
YEAR 1 - 2017 DEVELOPMENT PHASE
1. Define and agree to training program required to undertake T4TR in
these diseases in Nepal based on review of current offerings both within
NIH and within GG2020 participating partners
2. Identify and form collaborative partnerships with all participating
countries to identify best approach to managing 3
haemoglobinopathies involving both
i. international and national GG2020 partners
ii. within Nepal
YEAR 2 – 2018 NEEDS ASSESSMENT PHASE 1
On basis of Year 1, a clear plan will be developed and communicated on how
these conditions will be managed, treated, prevented and controlled in Nepal
given the epidemiology of the genes, variants, frequencies as currently
known, and not known, within the Nepalese PHC system, infrastructure
needs, understanding of patients and their families
YEAR 3 - 2019 NEEDS ASSESSMENT PHASE 2
Based on Year 2 identify and document a phased approach to control these
conditions involving robust and sustainable genomic techniques for diagnosis
for next generation (a 20-25 year plan) in Nepal using a consultative approach
YEAR 4 - 2020 DISSEMINATION PLAN FOR T4TR
NB – Plan does not include the conduct of the training – only the preparation

6. Our proposal – still in preparation
• Focus on a needs assessment in LIC – Nepal – answer the question “how can advances in
genomic diagnosis of haemoglobinopathies be effectively introduced into a low-income country
like Nepal to benefit the cost-effective and sustainable management, treatment and prevention
of these conditions?”
• Focus on core conditions of GG2020 – Thalassemias, SCD and G6PD
• Sub-Group of partners : Cyprus, Malaysia, Brunei, Philippines – drawn from GG2020 community
plus other institutional partners, MOH – partner countries range in WHO Categories
• Methodology will include: work shops, meetings, surveys, local assessment of skills,
infrastructure in Nepal plus development of plan based on ‘best practice’ in LIC
• Produce a plan/model that other LICs can use for introducing genomic-based diagnostic
services into their primary health systems
6

7. GG2020 Challenge
Goals:
1. To see growth in the quality and quantity of curated inputs from LIC and MIC 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
7

8. 8
THANK YOU