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diygenomics
melanie swan
DNA sequencing is progressing faster than any other technology, producing large volumes of quantiative data. We as citizen scientists have a critical role in discovering and implementing new findings. There are new tools emerging. We're in a new era. This is the cover of Nature magazine from April 1. They looked at the 10 years since the human genome sequencing, finding a 14,000 improvement in cost. There's a plot of base pair sequenced per dollar, over the last 30 years. There's a steep incline in the past 5 years. This is 10x improvement per year, as opposed to 1.5x improvement per year on traditional Moore's law curve.
There's a new construct of biocitizen identity, where the self acts in collaboration with peers, and more distantly, with professionals. Along the bottom, there's a lot of health data streams: genome, phenotypic data, interaction with the environment, diseaseome, and microbiome. And leading up on the left, to a different kind of outcome. Not just cures, but up-leveling to normalization, enhancement and so on. These factors are shaping DIYgenomics: declines in DNA sequencing, the era of big data. Most recently, in 2009, all of human created content, books and film, compromised 1 zetabyte. In 5 years, it will be routine for medical bioinformatics to generate 1 zetabyte of data. Web 2.0 and social networking are also contributing, the 4th paradigm, and has made collaborating with peers more easy.
The biocitizenry concept, like Quantified Self, DIYbio, and so on, are enabling this. On the eve of third and fourth generation sequencing, these improvements may continue. 1st generation was breaking up DNA into small segments. Second generation contemporary parallelized sequencing attaches single sided DNA strands to a microfluidic chip, and reads the signature as the bases are incorporated. Third generation is sequencing by synthesis, and the bases are read as they are incorporated onto the strand. Pacific Biosciences expects a 30,000x improvement. Fourth generation is like electronic sequencing, directly reading the electrical signature of the base as it is pushed through a nanopore. The big opportunity is reading and writing. Craig Venter's landmark achievement. On May 22nd, the first ever synthetic chromosome, the team printed DNA sequences with their computer, assembled them, and put them into a cell, and booted it to life and created colonies.
How many people here have had a genetics test. There's a lot of early adopters, maybe 25%. With DIYgenomics, we're making personal genomic data useful. We're doing this first of all with citizen science studies. We're leaking genetic data with phenotypic outcomes. This is our first study, where we're looking at 2 mutations at a vitamin D12 deficiency disease that also leads to cardiovascular disease. We're cycling through supplements, looking at blood test results, and analyzing the results. We have 25 other studies articulated. We want to look into cholesteral, neuroplasticity, productivity, personality predisposition, risk taking behavior.
We have a suite of personal genome analysis tools. The specific genes in review by a certain company, the mutation variants and the normal type. For drug response, we look at 250 different drugs, like statins, for looking at genes and analyzing which entity, and mutations indicated in red. And a potential interpretation as to drug efficacy. Our mobile app has over 1100 downloads. So please consider participating by organizing a study, joining, contributing, innovating cheaper blood tests, or by being a partner. We have partners in Japan and South Africa, and advisor on consumer genome sequencing businesses in China and Ukraine, and maybe a cancer study at UCL.
My collaborators: Raymond McCauley, Lucymaire Mantese, Marat Neponmonyashy, Roland Parnaso, Aaron Vollrath, Lawrence S. Wrong.
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