DIYgenomics: realizing personalized medicine through citizen science genomics clinical trials

1. 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 5. Telomere length anti-aging study Background: DIYgenomics goal and methodology 1. Dopamine modulation and memory filtering study 3. Vitamin B-9 and MTHFR variants 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 pre-clinical. 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. 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. Crowd-sourced 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 anti-aging remedy TA-65 telomerase activation therapy. 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 Requirements: Homocysteine blood tests, vitamin B supplements Summary: Determine efficacy of TA-65 telomerase activation therapy as an anti-aging remedy Requirements: Telomere length measurement tests and TA-65 therapy Participate:http://bit.ly/mAkLbo • Participate:http://bit.ly/mseecQ • 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 • Key SNPs reviewed: rs1801133, rs1801131 Requirements: Perform memory filtering exercise and background survey (approx 40 min) 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) 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 Press coverage: 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 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. Summary: Investigate if skin irritation from widely used Retin-A (tretinoin) products can be predicted ahead of time from personal genome profiles Requirements: Complete online survey regarding Retin-A skin care product experience (10 min) 4. Vitamin D deficiency study Summary: Investigate genetics, vitamin D deficiency, and supplementation Requirements: Vitamin D blood tests, vitamin D supplements Participate:http://bit.ly/retin-a-study 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 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. Key SNPs reviewed: rs1800629, rs3793784, rs6661961, rs6700998, rs7538876, rs7927894, rs801114 Participate:http://bit.ly/kb5R1l 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. 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: rs1042945, rs11168263, rs11540149, rs11574132, rs2853563, rs9729 SIGN UP FOR THESE STUDIES NOW! http://www.DIYgenomics.org 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.