DIY Genomics: an open platform for citizen science

Melanie Swan (Broader Perspective)

Biology is the next important area where open source models could substantially advance progress and solve existing challenges. DIYbio genomics is the idea of having open collaboration platforms for citizen science using genomic data. Enough individuals are in possession of SNP genotyping data from direct-to-consumer genomic services such as 23andme, deCODEme, Navigenics, etc., that collaborative citizen science projects can begin. Collaborations could extend to a number of domains including ancestry, health conditions, and athletic performance.

Personal genome 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 benefits of opening up datasets to the wisdom of the crowds could be expected with open personal genomic research.

DIYbio genomics has a number of interesting technical challenges. Data files are large and unwieldy. Security is tantamount. Mechanisms are needed for de-identifying and sharing data. Automated referencing and annotation tools are needed.

There are several examples of personal genome citizen science projects. First could be applying the information in a WIRED article Don’t tell Geico, you may be a natural born bad driver. DIYbio scientists could look up their genotype value for the relevant SNP (rs6265) on the BDNF gene and match this with actual driving records.

A second 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.

A third project opportunity is applying existing genetic association studies to peer cohorts, for example, a Boston University centenarian study. 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 corresponding 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 as Katherine Aull did for hemochromatosis.


Personal Genome Citizen Science

Personal Genomes: What Can I Do With My Data?

Swan, M. Multigenic Condition Risk Assessment in Direct-to-Consumer Genomic Services. Genet. Med. 2010, in press.

Photo of Melanie Swan

Melanie Swan

Broader Perspective

Melanie Swan focuses on personal genomics as a Research Fellow at MS Futures Group. Her educational background includes an MBA in Finance and Accounting from the Wharton School of the University of Pennsylvania, a BA in French and Economics from Georgetown University and recent coursework in bioscience, nanotechnology, physics, and computer science.

Ms. Swan’s career has focused on research, finance, and entrepreneurship, including founding a technology startup company, GroupPurchase, which aggregated small business buying groups. She was Director of Research at Telecoms Consultancy RHK/Ovum and previously held management and finance positions at iPass in Silicon Valley, J.P. Morgan in New York, Fidelity in Boston and Arthur Andersen in Los Angeles.

Ms. Swan serves as an advisor to research foundations, government agencies, corporations, and startups and is active in the community promoting science and technology, and opportunities for women. She designs professional and educational simulations, including “Discontinuity Futures,” “Being an Entrepreneur” and “The Trader’s Pit.” Ms. Swan is the former Treasurer of San Francisco-based non-profit Equal Rights Advocates, an Advisory Board member of the Foundational Questions Institute, Lifeboat Foundation and Accelerating Studies Foundation, a presenter at the Expanding Your Horizons math and science conference and co-moderator of the Philadelphia and Boulder Future Salons.

Ms. Swan speaks French, Spanish and Portuguese, and is an advisor and faculty member at Singularity University.

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Picture of Melanie Swan
Melanie Swan
07/20/2010 4:20pm PDT
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