Citizen Science Genomics as a Model forCrowdsourced Preventive Medicine Research
|Research|Vol. 2, 2010| December 23,
A research model for the conduct of citizen science genomicsis described in which personal genomic data is integrated with physicalbiomarker data to study the impact of various interventions on apredefined endpoint. This research model can be used for large-scalepreventive medicine studies by both institutional researchers and citizenscience groups. The genome-phenotype-outcome methodologycomprises seven steps
1) identifying an area of genotype/phenotypelinkage for study, 2) conducting a thorough literature review of datasupporting this genotype/phenotype linkage, 3) elucidating theunderlying biological mechanism, 4) reviewing related studies andclinical trials, 5) designing the study protocol, 6) testing the study designand protocol in a small pilot study, and 7) modifying study design andprotocol based on information from the pilot study for a large-scaleprospective study. This paper describes a real-world example of themethodology implemented for a proposed study of polymorphisms in theMTHFR gene, and how these polymorphisms may influencehomocysteine levels and vitamin B deficiency. The current study looksat the possibility of optimizing personalized interventions per thegenotype-phenotype profiles of individuals, and tests the hypothesis thatsimple interventions may be effective in reducing homocysteine inindividuals with high baseline levels, particularly in the presence of apolymorphism in the MTHFR variant rs1801133.
MTHFR, homocysteine, genomics, polymorphism, variant,citizen science, patient-driven clinical trial, crowdsourced clinical trial,research study, self-experimentation, intervention, personalizedmedicine, preventive medicine, participatory medicine, quantified self,genome-phenotype-outcome study, citizen science genomics.
Swan M, Hathaway K, Hogg C, McCauley R, Vollrath A.Citizen science genomics as a model for crowdsourced preventive