Citizen science genomics as a model for crowdsourced preventive medicine research

Abstract

Summary: A research model for the conduct of citizen science genomics is described in which personal genomic data is integrated with physical biomarker data to study the impact of various interventions on a predefined endpoint. This research model can be used for large-scale preventive medicine studies by both institutional researchers and citizen science groups. The genome-phenotype-outcome methodology comprises seven steps: 1) identifying an area of genotype/phenotype linkage for study, 2) conducting a thorough literature review of data supporting this genotype/phenotype linkage, 3) elucidating the underlying biological mechanism, 4) reviewing related studies and clinical trials, 5) designing the study protocol, 6) testing the study design and protocol in a small pilot study, and 7) modifying study design and protocol based on information from the pilot study for a large-scale prospective study. This paper describes a real-world example of the methodology implemented for a proposed study of polymorphisms in the MTHFR gene, and how these polymorphisms may influence homocysteine levels and vitamin B deficiency. The current study looks at the possibility of optimizing personalized interventions per the genotype-phenotype profiles of individuals, and tests the hypothesis that simple interventions may be effective in reducing homocysteine in individuals with high baseline levels, particularly in the presence of a polymorphism in the MTHFR variant rs1801133. Keywords: MTHFR, homocysteine, genomics, polymorphism, variant, citizen science, patient-driven clinical trial, crowdsourced clinical trial, research study, self-experimentation, intervention, personalized medicine, preventive medicine, participatory medicine, quantified self, genome-phenotype-outcome study, citizen science genomics. Citation: Swan M, Hathaway K, Hogg C, McCauley R, Vollrath A. Citizen science genomics as a model for crowdsourced preventive medicine research. J Participat Med. 2010 Dec 23; 2:e20. Published: December 23, 2010. Competing Interests: The authors have declared that no competing interests exist.