Genographic and the ancestry of citizen science in biomedicine

The genographic project has turned ten last week (13 April). National Geographic non for profit Genographic project is the biggest initiative in genomic dedicated to anthropological research. The massive collection of genomic data from indigenous communities and from participants recruited through their for-fee genetic ancestry service is supposed to shed light on early human history, ancestry relationships and migrations.


In ten years, more than 700.000 people took part in the project, submitting their cheek swabs and receiving genomic analysis pertaining their ancestry, and especially an estimate of relatedness with nine ancestral geographically defined clusters (Northeast Asian, Mediterranean, Southern African, Southwest Asian, Oceanian, Southeast Asian, Northern European, Sub-Saharan African and Native American), the proportion of Neanderthal and Denisovan genome, and geographic information about purely maternal (mitochondrial) and purely paternal (Y chromosome, only for male participants) ancestors.


Project milestones include articles on the peopling of Europe and evidence of Southern (Arabian) route for out-of-africa human migration. New results are expected to come as  genographic website declares that core datasets will be soon available to researchers and, more generally, to everybody interested in  human ancestry research.


Genographic may be the last universal common ancestor of citizen science projects in the biomedical life sciences. While in 2005 “citizen science” was a term frequently used in research projects in the natural sciences that recruit volunteers to collect data (e.g. in ornithology, astronomy, etc.), with Genographic, citizen science talks and practices migrated into contemporary biomedical sciences, thanks to a key enabling mutation that permitted the colonization of genomics.

Other noteworthy events in such history are the birth of direct-to-consumer genetic testing companies as a development of ancestry services, and the emergence of other, decisively biomedical, projects in genomics. They all arguably descend, ideally as well as practically, from the Genographic project. Formats of participation in direct-to-consumer genetic testing follow its template, from submission of samples to the possibility of navigating personal data online. Genographic was also a proof-of-principle of the potential of curiosity-driven participation for the setup of other, more medically oriented, projects.


While big-data projects in genomics represent the type species of citizen science, there has been a tendency in increased variability and even speciation as citizen science interacted with the ecology of healthcare, lifestyle and patient communities. There are known cases of assimilation of distantly related initiatives, as patient social networks. Sometimes such assimilation happened through direct breeding, as in the case of social network Curetogether and DTC genetic company 23&Me.


Theorists disagree profoundly on the details, if not on the essentials, of the recent history of citizen science in biomedicine. Lumpers believe there is value in maintaining in the same genre initiatives as diverse as Genographic and patient social networks. Splitters argue instead that, while the memetic flux between such different projects has been very high, they are phylogenetically distinct and ought to be put in different genres, reserving the genre of citizen science to projects as the American Gut Project, and its British embodiment, the British Gut Project, both dedicated to human microbiome genomics.

Further research at Citizenbiomedicine will reveal other intriguing details of the history of citizen science in biomedicine!


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