AB027. Developing capacity for variant data sharing in low and middle income countries: HVP’s Global Globin 2020 Challenge

Abstract: The hemoglobinopathies, collectively, are cause for significant morbidity and mortality. Children are the most severely affected. Despite much of the genetics and biology of hemoglobinopathies being known for a long time, and being used successfully in some countries to systematically reduce burden of disease, many low and medium income countries remain practically untouched by recent developments in human genomics involving the systematic collection and sharing of variation data to fighting hemoglobinopathies (notably thalassaemias and sickle cell disease, but also G6PD). Commitment to systematic variant data collection is increasing, but this is occurring mostly in high-income countries where much of the diagnosis and testing takes place. There is a risk that countries with the highest burden of these diseases are being left behind in a form of “genomic divide”. Capacity to generate quality data on variants, to store this information so that it can be shared internationally, needs to be built in these countries. Tackling hemoglobinopathies is an ideal entry point for these countries to develop the necessary infrastructure and expertise that can expand into other areas of health. This genomic capacity will enable building: (I) the genetic evidence base for better management of delivery of local treatment, care and eventually even cure; (II) a foundation for genomic medicine by working with national, regional and local health care professionals to raise public awareness of the genetic basis of hemoglobinopathies. Global Globin 2020 Challenge has been initiated with two goals: (I) to see growth in the quality and quantity of curated inputs into internationally recognized genetic databases from low- and middle-income countries participating in the project, and to harmonize the sharing of all relevant variant data between countries in accordance with international best practice that integrates all the relevant ethical and regulatory frameworks and policies required to protect patients at the same time that the biotechnical procedures are developed; (II) 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, patient groups and policymakers. Pursuit of these goals will raise the profile of genomic medicine in low and middle income countries in national, regional and international research organizations. It will also develop the capability of 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 globally so they can actively participate in regional and international partnerships related to genomic research. Initially the GG2020 Challenge will focus on a group of countries that have already formed groups of the relevant professionals including: Belgium, China, Cyprus, Egypt, France, Malaysia, Mexico, Mozambique, Nigeria, South Africa, Venezuela, Vietnam, Portugal, and The Netherlands. Other countries are ready to be included as the project expands. HVP will utilize its relationship with both UNESCO and WHO to ensure that the necessary international standards and procedures are developed in a consultative and harmonized manner.

Keywords: Hemoglobinopathies; genomic medicine; burden of disease