Haemoglobinopathies In Low And Middle Income Countries - Nepal

NHLBI – Center for Translational Research and Implementation ScienceRFA-HL-17-003

GG2020 MEETING DAY 2 TUESDAY 31 MAY 2016UNESCO SALLE IV

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

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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 objectives1. 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

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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.

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Our proposal – still in preparation

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YEAR 1 - 2017 DEVELOPMENT PHASE1. 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 partnersii. within Nepal

YEAR 2 – 2018 NEEDS ASSESSMENT PHASE 1On 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 2Based 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 T4TRNB – Plan does not include the conduct of the training – only the preparation

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

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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

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THANK YOU