DIYgenomics: realizing personalized medicine through
citizen science genomics clinical trials
Melanie Swan, William Reinhardt, Cindy Chen
+1.415.505.4426 www.DIYgenomics.org/DIYgenomics_poster.ppt Palo Alto, CA USA
Background: DIYgenomics goal and methodology
1. Dopamine modulation and memory filtering study
DIYgenomics is a non-profit research organization whose primary
goal is to provide a model for realizing preventive medicine by
establishing baseline markers of wellness and interventions for
conditions while they are in the 80% of their lifecycle that is preclinical.
Summary: Determine if genetic variants in the
dopamine pathway impact memory and prediction
in the first international citizen science
collaboration with University Hospitals Geneva,
Switzerland
Summary: Explore genetics, homocysteine, vitamin
B deficiency, and personalized intervention
The generalized hypothesis is that one or more genetic
polymorphisms (e.g.; mutations) may result in out-of-bounds
baseline levels of biophysical markers (for example, undesirably
high homocysteine levels), which may be ameliorated through
personalized intervention. The interventions that work best may
differ by individual.
Requirements: Perform memory filtering exercise and background
survey (approx 40 min)
Participate: http://bit.ly/mseecQ
The high cost of healthcare and the new availability of genomic
sequencing data suggests the imperative of developing innovative
models to supplement traditional health service delivery. Crowdsourced cohorts of citizen scientists and health social networks
could be significant resources for testing multiple hypotheses
quickly and dynamically in various populations.1 Citizen science
genomics, integrating personal genomic data with physical
biomarker data and intervention, is a model that could be applied in
large-scale preventive medicine studies by both institutional
researchers and citizen science groups.
DIYgenomics has five studies currently in operation regarding
memory performance, Retin-A skin treatment for acne and wrinkles,
vitamin B-9 and MTHFR variants, vitamin D deficiency, and antiaging remedy TA-65 telomerase activation therapy.
Participate: http://bit.ly/memory-filtering-study
Details: Our brains are able to adapt to the unexpected using a
built-in network that makes predictions about the world and
monitors the results of those predictions. An area at the front of the
brain, called the orbitofrontal cortex, plays a central role and studies
have shown that patients with damage to this area confuse
memories with reality and continue to anticipate events that are no
longer likely to happen. This study seeks to determine if genetic
variants in the dopamine processing pathway impact this process in
normal, healthy volunteers.
This study is being conducted in conjunction with the Center of
Cognitive Neurorehabilitation at the Geneva University Hospital in
Switzerland and is based on ongoing research into the underlying
mechanisms impacting the processing of memories according to
their relation with ongoing reality.2,3
Key genes and SNPs reviewed: COMT (VAL158MET rs4680),
DRD2 (rs1076560, rs2283265, rs7131056), SLC6A3 (rs40184)
DIYgenomics personal genome information apps
2. Retin-A acne and wrinkles study
In addition to designing citizen science clinical trials, DIYgenomics
has created a variety of web and mobile personal genome
information apps. The apps provide a comprehensive summary of
the genes and SNPs associated with conditions from contemporary
research, and offer a comparison of personal genome services
23andMe, deCODEme, and Navigenics. The apps review health
risk for the top 20 health conditions, metabolism for 200 drugs, and
natural capability for 15 athletic performance categories. The apps
are free and the software is open-source. 23andMe data files may
be loaded privately for personalized profile review.
Requirements: Homocysteine blood tests, vitamin B
supplements
Details: In the MTHFR gene (methylenetetrahydrofolate
reductase), 2 small variations in DNA (SNPs rs1801133/C677T &
rs1801131/A1298C) keep vitamin B-9 (or folic acid) from being
metabolized into its active form (folate). Without this form of vitamin
B, homocysteine may accumulate leading to a range of
cardiovascular and diabetes-related symptoms. Up to 60% of
people may have some form of MTHFR mutation.
This study aims to:
•Find people with MTHFR mutations - by collecting genotype data
from volunteers who have used genetic testing services
•Try simple interventions - like special vitamin B supplements
available over-the-counter
•See if they work - by asking participants to share results from
blood tests performed at commercial labs
Drug companies won't do this type of study -- there's little money to
be made in over-the-counter treatments. But we can. The tools to
do this -- to look at genomic information, to measure treatment
results, and to analyze the data -- are now cheap or free. All we
need are concerned people who care enough to help. Want to
answer this question? The results from the pilot phase of this study
indicate that ‘healthy’ individuals had higher-than-acceptable
homocysteine levels and that personalized intervention can help.5
Summary: Investigate if skin irritation from widely
used Retin-A (tretinoin) products can be predicted
ahead of time from personal genome profiles
Key SNPs reviewed: rs1801133, rs1801131
Requirements: Complete online survey regarding
Retin-A skin care product experience (10 min)
Summary: Investigate genetics, vitamin D
deficiency, and supplementation
Participate: http://bit.ly/retin-a-study
Requirements: Vitamin D blood tests, vitamin D
supplements
Details: Tretinoin or Retinoin, or Retin-A, is an acid form of Vitamin
A. It is used to treat acne and wrinkles, and is available by
prescription or over-the-counter. Retin-A peels or thins the outer
layer of the epidermis, and thickens the layers below by stimulating
collagen production. Although many favorable final outcomes are
reported, when first using a Retin-A product, some people
experience a period of irritation with red flaky peeling skin.4
5. Telomere length anti-aging study
3. Vitamin B-9 and MTHFR variants study
4. Vitamin D deficiency study
Participate: http://bit.ly/kb5R1l
Summary: Determine efficacy of TA-65
telomerase activation therapy as an antiaging remedy
Requirements: Telomere length
measurement tests and TA-65 therapy
Participate: http://bit.ly/mAkLbo
Details: As we age, our telomeres shrink by about 100 base pairs
per year. Research work from Nobel Prize winner Elizabeth
Blackburn and former Geron CSO Cal Harley has been used to
develop a potential remedy in the form of TA-65 telomerase
activation therapy.7 A few thousand individuals are currently taking
this therapy.
This study seeks to establish quantitative and qualitative measures
of the efficacy of TA-65 or astragalus supplements, and whether
personal genome profiles make a difference. Do people with
genetic polymorphisms in their telomere genes like TERC have
shorter telomeres to start with and are they therefore more likely to
benefit from therapies?
Key SNPs reviewed: TERC (rs10511887, rs12696304, rs16847897,
rs2293607, rs610160)
About DIYgenomics
DIYgenomics is a non-profit
research organization. Studies are
operated using Genomera (a
commercial platform). For more
information, please contact:
Melanie Swan, Founder
DIYgenomics
+1-650-681-9482
PO Box 61258
Palo Alto CA 94306 USA
m@melanieswan.com
www.DIYgenomics.org
Twitter: @DIYgenomics
facebook.com/DIYgenomics
SIGN UP FOR THESE STUDIES NOW!
http://www.DIYgenomics.org
Details: Investigate the prevalence of vitamin D deficiency and its
link to genomic profiles, the possibility of improving vitamin D levels
through supplementation, and individualized intervention.
This study investigates whether underlying genetic profiles make a
difference and might predict this ahead of time. This study is being
conducted as part of a larger translational reverse-aging study and
is intended for presentation at the annual LVMH Scientific
Recherche Symposium in London.
The study protocol is to start on a daily dose of vitamin D of 1,000
IU per 25 pounds of body weight (e.g.; a person weighing 150
pounds would take 6,000 IU per day), and test after eight weeks. If
blood levels are still low, try 1,000 IU increases in vitamin D dosage
to produce a 10 ng/ml increase. (Recommendations per the Vitamin
D Council (Dr. John Cannell)).6
Key SNPs reviewed: rs1800629, rs3793784, rs6661961,
rs6700998, rs7538876, rs7927894, rs801114
Key SNPs reviewed: rs1042945, rs11168263, rs11540149,
rs11574132, rs2853563, rs9729
Press coverage:
References
1Swan
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 Feb;6(2):492-525.
2Anonymous. Snakes and Spiders: Revealing the Wiring That Allows Us to Adapt to the Unexpected.
ScienceDaily. January 31, 2011. Available at:
http://www.sciencedaily.com/releases/2011/01/110131092332.htm Accessed: May 17,2011.
3Schnider A, Guggisberg A, Nahum L, et al. Dopaminergic modulation of rapid reality adaptation in thinking.
Neuroscience. 2010 May 19;167(3):583-7.
4Wadyka S. The Thing About Retin-A: It Works. New York Times. November 30, 3006. Available at:
http://www.nytimes.com/2006/11/30/fashion/30skin.html. Accessed May 17, 2011.
5Swan M, Hathaway K, Hogg C, et al. Citizen science genomics as a model for crowdsourced preventive
medicine research. J Participat Med. 2010 Dec 23; 2:e20.
6Cannell J. Am I Vitamin D deficient? The Vitamin D Council. October 1, 2008. Available at:
http://www.vitamindcouncil.org/health/deficiency/am-i-vitamin-d-deficient.shtml. Accessed May 17, 2011.
7Harley CB, Liu W, Blasco M, et al. A natural product telomerase activator as part of a health maintenance
program. Rejuvenation Res. 2011 Feb;14(1):45-56.