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The hundreds of genome-wide association studies (GWAS) that have linked specific genes and variants to conditions can be synthesized and applied comprehensively to the personal genomic data of individuals. Carrier status has been a long-established application area. Health condition risk, drug response, athletic performance, and mental performance are other application areas, with differing levels of validity and utility. One broader goal of using genomic data is to realize personalized medicine by establishing individual susceptibilities and baseline measures and intervening at pre-clinical stages. Towards this end, wellness profiling is another potential area for applied genomics, both for disease: cancer, aging, and immune system profiling, and organ wellness: liver, kidney, heart, and lung profiling.
DIYgenomics has developed a methodology for the conduct of patient-organized genomic research studies, obtaining outcomes by linking genomic data to phenotypic data and intervention. The general hypothesis is that individuals with one or more polymorphisms in the main variants associated with conditions may be more likely to have baseline out-of-bounds phenotypic biomarker levels, and could benefit the most from targeted intervention. A MTHFR/Vitamin B deficiency pilot study has been completed (Citizen science genomics as a model for crowdsourced preventive medicine research), an aging study is in open enrollment, and additional studies are in design for Vitamin D deficiency, metabolism, lymphocyte strength, mental performance, and retinitis pigmentosa/macular degeneration.
DIYgenomics is a non-profit research organization founded in March 2010 focused on the design of crowdsourced clinical trials and open-source personal genome applications (there have been over 3,000 downloads of the iPhone/Android mobile apps as of January 2011).
“A group called DIYgenomics has banded together to analyse their genomes, and even conduct and participate in small clinical trials” – Nature, October 2010
“…early adopters are showing how empowering and beneficial to science personal genetic information can be” – Nature Medicine, September 2010
“Many people who have discovered some or all of their genetic information are sharing it” – Nature, December 22, 2010
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.
Swan, M. Multigenic Condition Risk Assessment in Direct-to-Consumer Genomic Services. Genet. Med. 2010, May;12(5):279-88.
Swan, M. Emerging patient-driven health care models: an examination of health social networks, consumer personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525.
Melanie Swan is the founder of DIYgenomics.org which coordinates crowd-sourced clinical trials (http://www.DIYgenomics.org/). 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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