The Cause

The Human Variome Project (HVP) is an international non-governmental organisation that is working to ensure that all information on genetic variation and its effect on human health can be collected, curated, interpreted and shared freely and openly.

HVP provides a central coordinating function for national and international efforts to integrate the collection, curation, interpretation, and sharing of information on variation in the human genome into routine clinical practice and research. HVP ise 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.

The relevance of HVP is highlighted in Indonesia, given that Indonesians are particularly at High Risk of thalassemia, a genetic disease that disrupts hemoglobin production in red blood cells, leading to anemia. 2 Provinces, that border the Bono River basin, Aceh and South Sumatra, have higher higher thalassemia prevalence than other parts of the country, with the prevalence rate at 13.4% of the population. About 25% of children born with this disease have to rely on blood transfusions all their lives.

With Genetic Health Screening, and learnings from other countries such as Cyprus that the Human Variome Project can share, this can be dramatically reduced. For example in Cyprus the government established a policy of compulsory carrier screening and counseling which has resulted in the number of children born with thalassemia in Cyprus being virtually zero.

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