Even though 60% of the global population resides in the African and Asian continents, only a small portion of these genomes have been sequenced, representing less than 0.2% of data currently collected. There are more than 4 billion people who are not represented well with the current genome sequencing efforts. While the scope of past genomics efforts has been limited, a key challenge in using genomics to fulfill the promise of precision medicine will be in ensuring its global relevance and impact. To be globally relevant, genomic sequences must be obtained, shared, and analyzed globally. With this in mind, Canadian-based DNAstack is a key supporter of the launch of the first ever genomics data sharing Beacon for India.
“The Human Genome Project was a giant leap towards the development of a human genome ‘reference’ that has been used for years to make comparisons to point out mutations that cause disease,” said Dr. Marc Fiume, co-founder and CEO of DNAstack, which develops a cloud platform for genomics and the Beacon Network. “But the concept of a single genome reference is a completely artificial construct. We need to build an encyclopedia of genomes from different populations in order to implement precision medicine on a global scale. The addition of ggcIndia is the first step for building a connected knowledgebase including genomes from India.”
Dr. Fiume is the co-lead for the Beacon Project, a demonstration project of the Global Alliance for Genomics and Health (GA4GH). The project defines global standards for genomic data discovery and sharing. It is truly worldwide, having installations from every continent, including comparatively underrepresented areas like Africa, Singapore, and now India. Yesterday, the latest of these, Global Gene Corp (GGC)’s ggcINDIA, was launched in a ceremony at Wellcome Genome Campus near Cambridge in the UK by India’s High Commissioner to the UK, His Excellency Mr. Dinesh Patnaik.
DNAstack continues to develop the Beacon Network (beacon-network.org), a search engine for all the world’s Beacons that allows researchers to instantly discover genetic sequence data from across the world. The project intends to significantly accelerate the path between sequence and discovery. “DNAstack is proud to support the efforts of GlobalGene Corp, The Sanger Institute, EMBL-EBI, ELIXIR, and the Global Alliance for Genomics and Health (GA4GH) in bringing this important Beacon into the Network”, says Fiume.
“We’re so pleased to be a leading contributor for this globally important project” said Fiume. “We believe that future discoveries will be powered by the Internet of Genomics, much like the Internet of Things has powered new discoveries. The network we are helping to build as part of this collaboration is based on the same principles of connectivity and openness,” Fiume said.