DIY genomics: how patients can collect data for genetic researchers

Melanie Swan has just published an excellent paper in the Journal of Participatory Medicine, “Citizen Science Genomics as a Model for Crowdsourced Preventive Medicine Research”. The paper is important because of two data points: first, that the costs of recruiting patients for research studies is high and rising; and second, that the costs of patients sequencing their own genes is low and falling. This means that large genetic research studies can significantly increase in number and drop in cost if patients sequence and contribute their own genomic data.

Melanie’s paper shows how this can be done, starting with the collaboration web site DIYgenomics. Contributors evaluated 40 potential ideas, and chose to look at MTHFR gene and vitamin B deficiency. Having looked at the literature, the known underlying biochemical pathways, and related existing studies and clinical trials, Melanie designed a study protocol. A pilot study with 7 patients from around the world, each of whom paid for genomic sequencing for their genotype, and then homocysteine blood tests to monitor the variation in their phenotype.

The sample is too small to be statistically significant, but protocol is interesting enough to be clinically significant.

Many of Patients Know Best’s customers initially approached us because they wanted to get research data from patients. As Melanie is showing, patients can contribute data that is difficult and expensive to get. Because the patient is in control, the governance barriers and costs collapse. And because the patients benefit when researchers find cures, it is likely that the volume of data coming forth will increase exponentially.

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