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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.

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Guest Wednesday, 20 September 2017