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Birds, buckets & beaches: An analogy about genomics

Imagine you need to catalogue all the grains of sand on a beach, but to do this you must use special tweezers to pick up each grain, be trained to identify the grain, then place it in the correct grain bucket. Imagine armed with this correctly catalogued beach worth of sand and buckets, you could diagnose genetic diseases and design therapies with an ease unparalleled in today's scientific world. Further imagine that through some fluke of evolution, a highly intelligent species of bird with eyes and beaks suited to picking up and classifying individual grains of sand inhabit the island on which you wish to sort your sand. Now all you have to do is train the birds to pick up the sand and deposit it into the correct bucket according to your bucket classification system – but why would a bird do this? Food. Why would a researcher do this? Publications.

To pull down the analogous curtain, grains are genetic variants, birds are researchers, food is scientific recognition and buckets are genetic databases – but the problem is really a problem. We need to catalogue all the genetic variants in the world because it is this data that will enable us to get a handle on genetic disease – diseases like sickle cell anemia, cystic fibrosis, polycystic kidney disease, Tay-Sachs and many others.

Whilst the birds’ favourite food continues to be publications, publications don’t get the sand sorted into buckets fast enough. There is a faster approach, it just requires a different sort of food: MA or microattribution. Microattribution opens up the discovery of scientific knowledge to the crowd and is part of a much larger effort on behalf of the Human Variome Project to encourage the collection and sharing of genetic data on a global scale. But there are many beaches around the world and connecting this data is a challenge in itself requiring governments, universities, companies, health providers, researchers and citizens to all work together to put forward the data they've collected into a network from which everyone can learn from.

To learn more about the Human Variome Project and its role as a partner NGO of UNESCO, check out this editorial in Nature Genetics.

Image sourced under Creative Commons via Flickr from jdrephotography.

This article originally appeared in Science & Diplomacy on 19 March, 2015. It is republished here with permission.

One way to address the global challenges of public health in developing countries is through international collaboration to share data. It’s important to do this not just for humanitarian reasons but because open information is at the heart of scientific progress. One field in which this is particularly evident is genomic research, which has made revolutionary progress in recent years. Since the first genetic variation causing inherited disease (sickle-cell anemia) was defined at the protein level sixty years ago,1 it has become possible to locate, isolate, sequence, and clone individual genes. Indeed, there has been an explosion in research to discover the function of each of the twenty thousand or so human genes.

Once the Human Genome Project—the international effort to map the genes present in the human genome—was completed, a new global project was launched in 2006 to share information about genetic variation in clinical practice. The Human Variome Project (HVP) acts as an umbrella organization, actively engaging with partners and stakeholders in each country to ensure that genetic variation information, generated during routine diagnostic and predictive testing, is collected and shared. The HVP is also instrumental in establishing and maintaining the standards, systems, and infrastructure that will embed the sharing of this knowledge in routine clinical practice.2

The United Nations Educational, Scientific and Cultural Organization (UNESCO) serves as an important channel for the involvement of developing countries in the HVP, as it did during the Human Genome Project. One of the main goals of UNESCO is the development of international science that meets social needs in health, food, education, and other standards of living.

This goal has become increasingly relevant in the Post-2015 Development Agenda,3 which aims to address these global challenges, including the burden of diseases on the performance and growth of many nations, particularly in developing countries where issues of public health are of major concern.4 Formed at the end of World War II, UNESCO was one of numerous initiatives for international scientific cooperation undertaken by the nascent United Nations. These scientific cooperation initiatives were seen as diplomatic opportunities to promote collaborations among nations in hopes of fostering peace and development. The same sentiment is true today with the HVP, one of the latest efforts by UNESCO to promote collaboration.

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