Citizen Science Genomics as a Model for Crowdsourced Preventive Medicine Research

Melanie Swan; Kristina Hathaway; Chris Hogg; Raymond McCauley; Aaron Vollrath

J Participat Med. 2010;2

Conclusion

This paper presents citizen science genomics, a research model contemplated for large-scale execution of preventive medicine research in crowdsourced cohorts. The model integrates personal genomic data with physical biomarker data to study the impact of various interventions on a predefined endpoint. Citizen science genomics could allow both traditional researchers and citizen scientists to access crowdsourced subjects who are ready to engage in research studies. Citizen scientists could be important resources as they increasingly have access to their health information, may be willing to contribute their data to various studies, have the interest and motivation to investigate conditions of personal relevance, and can leverage crowdsourced labor for data collection, monitoring, synthesis, and analysis, and new tool development.

Preventive medicine is a key public health challenge in the coming decades. New models like citizen science genomics are needed to answer important questions. Dropping prices and new technologies for collecting data regarding microbiomes, proteomics, imaging, personal tracking, and other information streams will increase the feasibility of this approach. Preventive medicine has the potential to take on new relevance and meaning through the use of citizen science genomic studies, as crowdsourced participants establish baseline and ongoing longitudinal measures for wellness, health maintenance, and customized intervention.

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Competing Interests
The authors have declared that no competing interests exist.

Acknowledgments
We would like to acknowledge Takashi Kido and William Reinhardt for sharing their genotypic and phenotypic data, and many individuals who shared their genetic data for research purposes including David Orban, Geoffrey Shmigelsky, Eri Gentry, Todd Huffman, Fadi Bishara, Richard Leis, Jr., Mark Even Jensen, Misha Angrist, and several parties whom wish to remain anonymous. We would like to acknowledge Lyn Powell and Lucymarie Mantese for their advisory contribution and study support.

Cite this: Citizen Science Genomics as a Model for Crowdsourced Preventive Medicine Research - Medscape - Dec 23, 2010.

Table 1. Genotype results and demographic profiles.
Participant	rs1801133 (Normal/Risk: G/A)	rs1801131 (Normal/Risk: T/G)	Maternal haplogroup	Paternal haplogroup	Ethnicity	Gender	Age	Vegetarian status
Citizen 1 (AV)	AG	TT	J1b1a	R1b1b2a1a2	European	Male	36	Vegan
Citizen 2 (RM)	GG	GG	K1c2	R1b1b2a1a2*	European	Male	44	n/a
Citizen 3 (MS)	AG	GT	K1a	n/a	European	Female	42	Vegetarian
Citizen 4 (KH)	GG	GT	K1b2a	n/a	European	Female	47	n/a
Citizen 5 (CH)	GG	GT	K1b2a	R1b1b2a1a2f2	European	Male	35	n/a
Citizen 6 (TK)	AG	GT	n/a	n/a	Japanese	Male	38	n/a
Citizen 7 (WR)	AG	TT	J2a1a1	R1a1a*	European	Male	26	n/a

Table 2. Participant homocysteine levels (μmol/L) and statistics at study intervals.
Participant	Study Interval					Greatest Decline
Participant	1	2	3	4	5	Greatest Decline
Citizen 1 (AV)	12.6	9.3	11.2	15.9	14.2	−26%
Citizen 2 (RM)	6.4	9	7	7.9	8.7	−22%
Citizen 3 (MS)	12.9	9.1	12	12.8	9.8	−29%
Citizen 4 (KH)	10.5	9.2	8.6	8.1	6.3	−40%
Citizen 5 (CH)	14.1	10.6	15.2	n/a	18.4	−25%
Citizen 6 (TK)	9.6	9.0	9.4	n/a	n/a	−6%
Citizen 7 (WR)	6.7	5.7	8.4	n/a	n/a	−15%
Average	10.4	8.8	10.3	12.3	11.5	−19%
Avg: rs1801133 GG (n = 3)	10.3	9.6	10.3	10.9	11.1	−18%
Avg: rs1801133 AG (n = 4)	10.5	8.3	10.3	14.4	12.0	−19%
Avg: rs1801133 AG & Vegetarian/Vegan (n = 2)	12.8	9.2	11.6	14.4	12.0	−28%

Table 3. Participant vitamin B-12 levels (pg/mL) at study intervals.
Participant	Study Interval
Participant	1	2	3	4	5
Citizen 1 (AV)	482	527	501	493	562
Citizen 2 (RM)	715	594	625	661	n/a
Citizen 3 (MS)	253	329	312	318	311
Citizen 5 (CH)	185	209	186	n/a	198

Authors and Disclosures

Melanie Swan
Melanie Swan is a Research Fellow at DIYgenomics, a citizen science organization she founded in March 2010. Melanie has a quantitative risk assessment background and became interested in the predictive risk modeling and practical applications of personal genomics. Melanie's educational background includes an MBA in Finance and Accounting from the Wharton School of the University of Pennsylvania, and a BA in French and Economics from Georgetown University. https://www.diygenomics.org/

Kristina Hathaway
Kristina Hathaway is a consultant and strategist in the life sciences industry, providing expertise in human resources, operations, and administration. Kristina has led global teams at Entelos, Ingenuity Systems, Incyte Genomics, UBC Clinical Technologies, and Tercica/Ipsen. Kristina has attended Stanford and UCSC graduate schools, and has a BA from SJSU.

Chris Hogg
Chris Hogg is currently a commercial strategist and the cardiovascular area lead at Gilead Sciences, a large biotech company in the Bay Area. Prior to Gilead, Chris worked for CV Therapeutics Inc. (acquired by Gilead Sciences in 2009), and was Associate Director in the Global Healthcare Group at UBS Investment Bank in New York. Chris started his career as a molecular biologist for Strata Biosciences, a functional genomics startup. Chris holds a degree in Biology from Brown University and an MBA with honors from the University of Chicago Booth School of Business.

Raymond McCauley
Raymond McCauley is a senior bioinformatics scientist working in R&D for DNA sequencing and gene expression. He has over 15 years of experience in the biotechnology and high tech arenas, with Exponential Biosciences, Illumina, Ingenuity Systems, QIAGEN Genomics, Applied Carbon, various startups, and governmental agencies. Raymond's educational background is in computer science, electrical engineering, biochemistry, biophysics, and bioinformatics, including graduate studies at Texas A&M University and Stanford University.

Aaron Vollrath
Aaron Vollrath is a life sciences researcher. Aaron's educational background includes a PhD in Cancer Biology and a BS in Computer Science both from the University of Wisconsin-Madison.

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