Sunday, January 31, 2010

Personal genome citizen science

Enough people are in possession of SNP genotype data from direct-to-consumer genomic services (e.g., 23andme, deCODEme, Navigenics) that collaborative citizen science genomics is starting to make sense. Participants could contribute genotype data for individual SNPs or their genotype data file (600,000 – 1 million SNPs) to secure peer collaboration platforms, with different levels of permissioning to different groups of ‘gene friends.’

Personal genome citizen science could be carried out in a number of domains ranging from ancestry to health to athletic performance. Research could both replicate and extend existing academic studies and look for new associations between genomic profiles and disease. Citizen scientists could explore and identify different kinds of phenotypic data to collect and apply in attempts to make genomic data meaningful and useful. The proven benefits of opening up datasets to the wisdom of the crowds could be expected with open personal genome research too.

Personal genome citizen science examples taken from the DIYgenomics Citizen Genomes Project list:

  • One fun citizen science genomics project could be applying the information in the WIRED article “Don’t tell Geico, you may be a natural born bad driver.” DIY scientists could look up their genotype value for the relevant SNP (rs6265) on the BDNF gene and match this with actual driving records.
  • Another project a Silicon Valley-based DIYbio team is starting to look into is Vitamin B12 deficiency. The two relevant SNPs on the MTHFR gene, rs1801133 and rs1801131, are genotyped by 23andme and maybe also by deCODEme and Navigenics. The first step is looking up genotype values for these SNPs, (AG and GT for one participant, for example). For more information on being a peer participant in this study, please contact m AT
  • A third opportunity concerns the application of existing genetic association studies to peer cohorts. For example, the long-awaited results from a Boston University centenarian study were presented in November 2009. Part of this study found 18 SNPs on the ADARB1 and ADARB2 genes for RNA editing associated with centenarians. Citizen scientists could identify individuals with the favorable genotypes for these SNPs and investigate whether these people have corresponding lack of phenotypic biomarkers of aging.
  • Even better than having low-cost DNA sequencing tests for consumers would be being able to self-genotype in DIYbio labs. An early example of this was Katherine Aull genotyping herself for hemochromatosis.

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