Genetic Transparency. Ethical and social implications of next generation human genomics and genetic medicine
The Lives of Open Source Biology: Transparency and Distributed Practices in the DIYbio
network.
Presentation handout / Sara Tocchetti / 3900 words
Introduction: 'Ethnographic snapshots'
The purpose of this workshop is to collectively assemble a rich, inclusive and above all helpful
understanding of the discourse and practices recognized under the notion of 'genetic transparency'. A
notion formed under the assumption that DNA sequencing technologies as 'reading technologies' will
produce 'genetic information' and that such 'information' will increasingly 'inform', in its etymological
sense 'shape into a certain form', our 'subjectivities'.
As part of such effort, my aim is to illustrate that it can be tactical to consider how the legacy of
the 'computer revolution' and the related culture of 'open source software' is it self informing the notion
of 'genetic information'. In particular throughout my research I coined the notion of 'personal biologies'
to refer at an ensemble of discourses and practices aimed at making biology and in particular
biotechnology a personal technology in the sense of how computers have become 'personal', and DNA
and 'genetic information' a sharable information in the sense of how 'digital information' is 'shared' on
the Internet.
The DIYbio network is among the most advanced and proliferating example s of such attempts
to make biology into a personal technology. In the limits of this handout I will first provide the reader,
who might not be familiar with those practices, a first sense of DIYbio discourses an practices and the
cultural context in which those are grounded. Due to the limit in space those 'ethnographic snapshot'
are intentionally provocative but also reductive. In the second part I will very briefly explore how the
discourses and practices that are introduced in the 'ethnographic snapshot' can be useful when
elaborating an understanding of 'genetic transparency'.
First Snapshot: Discourses of an open biology
In 2007 Jason Bobe made a spontaneous job offer to Professor George Church, the founder and
director of the Personal Genome Project (PGP) at Harvard University; and was immediately hired as
the Director of Community of PGP. Founded in 2005 and designated by Church as the “natural
successor” of the Human Genome Project1 the PGP is based on volunteers making their sequenced
1 From one of the first article presenting the PGP to the scientific community. Available at
http://www.nature.com/msb/journal/v1/n1/full/msb4100040.html. Last accessed 03.03.2013
genomes and phenotypes data openly available on the Internet2. As a fervent supporter of the idea that
access to genomic information is a right and a sharable resource, Bobe was extremely well prepared to
become an advocate for the project. He was fascinated by the idea that genome sequencing could
become a cheap and accessible technology revolutionizing how and by whom medical information is
produced, gathered and interpreted:
“I was witnessing, in the George lab, the DNA sequencing devices getting smaller
and faster and cheaper and they have basically done a totally DIY sequencing
instrument called the Polonator 3[...] You went in this little room and there was
this microscope that was totally taken apart and wires coming in and random
looking pieces of hardware plugged in and they had basically converted this
microscope into a sequencing device”.4
Bobe remembers researchers speaking about the drop in cost that the Polonator would result in,
and how, according to his experience in the sequencing technology sector, “this was going to be
cheap enough for everybody to have one of these devices in the garage, and they wanted one
soon, and so the idea is that I was looking for how to call it”. Bobe who jokingly refers at him
self as a 'white boarder' plunged into a brainstorm session and searched for a short name that
could work as an Internet domain. He came up with DIYbio, chose it as the best candidate and
he immediately purchased the corresponding Internet domain: DIYBio.org.
2 “These resources [available on the Internet] will include full (46-chromosome) genome sequences, digital medical
records, as well as information that could one day be part of a personal health profile, such as comprehensive data about
RNA and proteins, body and facial measure-ments, and MRI and other cutting-edge imagery. We will also create and
deposit human cell lines representing each subject in the Coriell repository of the National Institute of General Medical
Sciences. Our purpose is to make all this genomic and trait information broadly accessible so that anyone can mine it to
test their own hypotheses and algorithms and be inspired to come up with new ones.” The aim is to have 100'000
participants enrolled. From http://arep.med.harvard.edu/pdf/Church05s.pdf [from the HGP
http://www.personalgenomes.org/newsby.html] Last accessed 03.03.2013.
3 “The Polinator: The instrument, designed and fine-tuned by Church and his team, is manufactured and sold by Danaher,
an $11 billion scientific-equipment company. The Polonator is already sequencing DNA from the first 10 PGP
volunteers. What's more, both the software and hardware in the Polonator are open source. In other words, any
competitor is free to buy a Polonator for $150,000 and copy it. The result, Church hopes, will be akin to how IBM's
open-architecture approach in the early '80s fueled the PC revolution.”
Available at http://www.wired.com/medtech/stemcells/magazine/16-08/ff_church?currentPage=all. Last accessed
03.03.2013.
4 Interview.
Fig.1 During a laboratory visit part of the Passenger Pigeon Meeting (an encounter aimed at discussion the genetic
verification of extincted species – March 2012), professors George Church shows the latest prototype of the Polinator 5.
The DIYbio.org domain was not developed further until April 2008, when Andrew Hessel, introduced
Bobe to MacKenzie Cowell, whom a couple of weeks after became DIYbio co-founder. Andrew Hessel
who has been described as a 'biotech hipster― a professional life science provocateur'6', writes about
himself:
“Andrew is an advocate of open genetic engineering, believing that the field will
increasingly
resemble the software industry and give rise to open source, single
purpose (app), and ‘freemium’ applications, and that it will be spearheaded by
younger programmer-entrepreneurs.”7
As part of his work as a facilitator of emerging technology Hessel described the encounter as
the “necessary spark that lead to the first DIYbio meeting”8. Bobe and Cowell first encounter
took place at Boston's Betahouse a co-working space for 'entrepreneurs, technologists and
creatives'9. Bobe and Cowell established a mailing list the DIYBio Google Group and posted
5 The picture was posted on Steward Brand Flickers account, available at :
http://www.flickr.com/photos/90082709@N00/6872966019/in/photostream. Last accessed 04.03.2013
6 Wholsen M. (2011) Biopunk DIY Scientists Hack the Software of Life. Penguin Group, p. 84. Wholsen, a freelance
journalist has written several short articles about biohacking, in the book he present the movement while endorsing its
promises.
7 From Andrew Hessel website, available at http://andrewhessel.com/?page_id=34. Last accessed 04.03.2013.
8 Interview
9 Betahouse closed up in 2010. The specific atmosphere of a 'co-working space' defined by De Koven who coined the
term coworking as a space providing “computer-supported collaborative work”. Distinctions between co-working spaces
and business accelerators, incubators and executive suites are described as: “These spaces do not seem to fit into the
coworking model because they often miss the social, collaborative, and informal” Available from
http://en.wikipedia.org/wiki/Coworking. Last accessed 04.03.2013. Methodological note: at the moment there aren't any
on DIYBio.org the first defintion of DIYBio:
DIYbio is an organization for the ever expanding community of citizen
scientists and DIY biological engineers that value openness & responsibility [...] (DIYbio,
2008)10
Fig.2 The logo of the DIYbio network.
A couple of weeks later the first DIYbio meeting was organized in a pub near MIT and monthly
meetings were scheduled at the Betahouse. At that time Cowell had just left his employment as
the Community Developer of the international Genetically Modified Machine competition
(iGEM) at MIT11. The funders of iGEM promote a culture openness and sharing by requiring
participants to pool all their constructs as part of a common data base and publish all their result
in the form of Wiki entries accessible to the other participants. Cowell enthusiasm for iGEM
seemed to fade out as during the frist DIYbio meeting he stated that as a Community Developer
at iGEM he was not learning anything new. In an early interview Cowell explains why he didn't
pursued a PhD:
“[…] I was disappointed with the huge barrier of entry for average people,
or for anyone who wants to get involved but is not already in a PhD program.”
Similarly Reshma Shetty an early iGEM participant, PhD student at MIT and involved in the
sociological or ethnographic work on 'co-working' spaces, in this context the definition provided by Wikipedia is
temporally acceptable.
10 This is the first version of the welcome message and was published on the blog on the 27th of May 2008. It has been
retrieved using the WaybackMachine, an Internet Archiving project developed by the Internet Archive. The
WaybackMachine is accessible at http://archive.org. Last accessed 04.03.2013.
11 The international Genetically Modified Machine student competition is organized by the funders of MIT branch of
synthetic biology since 2003. Teams of students from all over the world present their genetically modified cells which
transformations, following the Big Biology rhetoric their projects are supposed to address the most urgent challenges of
humanity, from desertification to antibiotic resistance. For an ethnographic description of the competition's culture see
Aguiton (2010) and Cockerton (2011).
early development of DIYbio explains: “nowadays, biotechnology is like a medieval guild.
Firstly, you have to get a PhD, but if you want to practice then you need venture capital;
otherwise you don’t have the tools”.
Mackenzie prefers to see DIYBio becoming the “Homebrew Computer Club of biology”,
inscribing DIYBio into another domestic continuity, the one of 'garage innovation' as the site of
celebration of centuries of American industrial progress, the last of which is the personal
computer revolution12. In January 2010, Meredith Patterson an IT professional and self declared
biohacker presented at the 'Outlaw Biology? Public participation in the Age of Big Bio'
conference: 'A Biopunk Manifesto'. In the the text, inspired by the 'Cypherpunk Manifesto'13,
she claimed:
“we [biopunk] reject the popular perception that science is only done in million-dollar
university, government, or corporate labs; we asserts that the right of freedom of inquiry,
to do research and pursue understanding under one's own direction, it as fundamental
right as that of free speech or freedom of religion.”
As Cowell states “there must be another opportunity” and DIYbio promise to be that one.
While in his own word Bobe explained:
“in some sense, we’re returning to some of the roots of biology, where scientists had
laboratories in their parlors [...] It was something that didn’t actually happen often in
institutional settings; it was something that happened at home.”
This first snapshot captures a fragment of the discursive formation of the DIYbio network and
briefly illustrates some of the motivation that sustained the reflections of its early members. By
combining the historical imagery of “parlor science” with the symbolic value of “the garage”,
Bobe and Cowell elaborates an imploded idea of innovation and personal experimentation.
Hessel forecasts and promotes another implosion, the one of computer and biotechnology
practices into what he names 'open genetic engineering'. Shetty supports her claims by arguing
that both private and public biotechnology's initiatives have become “like a medieval guild” and
Patterson advocate “the right of freedom of inquiry”.
In the last years those inspirational claims have been stabilized through a variety of practices, while
new members have joined and further elaborated the discursive possibilities of DIYBio. The following
12 The Homebrew Computer Club : turner
13 The Cypherpunk Manifesto was published in the early 90s. It was part of the movement aimed at promoting the
accessibility to cryptographic technology to member of the public. Available at
http://www.activism.net/cypherpunk/manifesto.html. Last accessed 08.03.2013.
'snapshot' presents some on those practices. While not all the activities of DIYBio have to do with
genetics, I specifically chose some that might be relevant in the context of the workshops 'Genetic
Transparency'.
Second Snapshot: The necessity for practices of open biology
In 2009 Kay Aull, a recent graduate student from the Biological Engineering program at
MIT and early member of DIYbio in Boston, was informed that his father was diagnosed with
the hereditary disease haemochromatosis. Eager to demonstrate what was possible to do in a
“home made” laboratory14 she purchased a second hands thermo-cycler on Ebay and gathered
other laboratory tools:
“The rest of her set up was not nearly so high-tech. For an incubator she used a
Styrofoam box and a heating element. For a microcentrifuge she suck a handheld
drill through an empty yoghurt tub: squeezed the drill trigger and the tub would
spin. For enzymes she availed herself of free sample. When the synthetetic bio start-up
she worked for changed location (Codon Devices, coufounded by George Church and
since reorganized) Aull pulled a tube of enzyme and 'a couple of other things' from the
trash”15
With those tools she extracted her DNA, amplified the fragment in question, digested it and was
able to determine that she carried the haemochromatosis mutation on both alleles.
Fig.3 Kay Aull posing for a picture with her 'closet laboratory' for Discover Magazine (2011) 16.
14 Interview.
15 This quote is taken from Here is a human being: at the dawn of Personal Genomics, a book written Misha Angrist a
participant of the Personal Genome Project and advocate of the “radical openness” promised by personal genomics
(Angrist, 2010, p.172). In there Aull project is presented as a radical and inspiring precursor.
16 Available at http://discovermagazine.com/2011/oct/21-dawn-of-the-biohackers#.UTXEuxyEpdE. Last accessed
On the East Coast other members of DIYbio were also attempting to make the claims for a biology
accessible to all, into a practice. For Tito Jankonski and Josh Perfetto the main obstacle was that the
basic tools needed to become a DIYbiologist where either two expensive or too complicated to be used
or repaired without previous knowledge. In 2009 they started to work on the OpeoPCR, a “open-source
and hackable” thermo-cycler that could be both cheap and easy to assemble and use. Two year after the
OpenPCR was available for purchase at the price of $599 while the design files were uploaded on the
Internet. It assembling and instruction manuals have been compared to the ones shipped with IKEA's
furniture.
Fig. 4 The OpenPCR Kit.
Although is not yet clear what is the market for the OpenPCR, in the last year Perfetto has
shipped more then fifty machine to private homes. The OpenPCR has been also widely
promoted on the DIYbio mailing list and during the many work shops that DIYbio members
have organized since. One of them was the “Sequence your DNA workshop”, an event that
Perfetto has been regularly proposing at Hackspaces and “community laboratories” (see above).
On May 2011 he gave one of those workshops at the Hacker Dojo in Mountainview. Perfetto
proposed to “ genotyping our selves by sequencing a small portion of our genome”. The
participants were give the choice to genotype two recreational SNP: RS/815738 and
RS/713598. The first was presented as the “muscle twitch” or “if you have a C:C or as he put is
the Olympic sprinter, while if you had T:T you would be better at endurance”. The second SNP
was presented as determining the taste of bitterness where with C:C and C.G “you could taste
bitter” while “with G:G you could not”. Five-teen participants attended, eleven man of which a
father with his son and four women. Their reason to participate were diverse. The majority was
05.03.2013.
there out of curiosity, they though it would be “cool” to learn something new and that
genotyping SNPs corresponded to their representation of 'cool' and 'new learning experience',
other joined to learn a new science activity to do with their children. But the man who sat
beside me told me he was there because he claimed to have inherited the worse genes from his
parents and was searching for a cure to his condition. He explained that he had contacted
several USA and international biotech companies working on in invivo gene silencing and over
expression techniques and offered himself to test their drugs. The majority of the participants
chose to test themselves for the first SNP, the “muscle twitch”. The procedure was compared to
the service proposed by the company 23AndMe. Perfetto argued that he could not compete with
23AndMe service in respect of the number of SNP they screened for. But instead the procedure
he proposed was more engaging and participative as it allowed the participants to do all the
steps by themselves, excepts the sequencing, that was described by Perfetto as the “not
exciting” part. For Perfetto the workshop not only represented the possibility to exercise his
skills as a science communicator, and to share with the participants his enthusiasm for personal
genomics and DIYbio, but it was an opportunity to test the SNP kits that he and Cowell had
been developing. Initially called the SNParty, and in its finished version the LASERGENE, the
kit was design to make the experience of SNP accessible to “every one”.
Fig.5 The GENLASER Kit sold by Cofactor the company founded by DIYbio co-founder Cowell and DIYbio
member Perfetto17. The first three steps illustrated in Make Magazine a major media supporting the 'modern DIY
movement'.
If in a first moment DIYbio members proposed their activities as part of science festivals,
educational initiatives and DIY events such as the Maker Faires18. Shortly after they started to
establish “community laboratories”, spaces where the practice of DIYbio experiments could be
become regular. The first “community laboratory” opened in New York in December 2010.
Genspace ̶ New York City's Community Biolab is a BSL 1 laboratory open to everyone
interested in the lifesciences. On the web page its founder presents the initiative:
“we offer hands-on courses to the public, provide extracurricular experiences for
students, and encourage scientific entrepreneurship, particularly in the fields of
molecular and synthetic biology. As a community-based lab, we offer members the
unique opportunity to work on their own projects and experience the joy and wonder of
science firsthand.”
Fig. 5 Genspace: The transparent 'community laboratory' , view from the outside. The picture appeared in a short report
from Genspace's co-founder participation to the Driven by Digitization conference (DLD), as an example of an initiative
“celebrating authenticity”19
As part of they 'science outreach program Genspace's founders offers different workshops. In the
17 Available at http://blog.makezine.com/projects/sequence-your-own-dna-with-genelaser/. Last accessed 07.03.2013.
18 Maker Faires are two day fairs dedicated to the celebration of the 'maker mindset'. The first Maker Faire took place in
April 2006 on the San Mateo Fairgrounds, at the heart of the San Francisco Bay Area. Only five years later, more than
twenty Maker Faires and Mini Maker Faires have been organized across the USA, Canada, UK, Ghana and Egypt.
According to organizers, the 2011 Bay Area Maker Faire was visited by more than 70'000 attendees. On the event
website, Maker Faire is presented as “the premier event for grassroots American innovation. [...] The World's Largest
DIY Festival. [...] A showcase of invention, creativity and resourcefulness and a celebration of the Maker mindset”
(Maker Faire, 2012).
19 Available at http://dld-conference.com/articles/27 . Last accessed 07.03.2013.
Biotechnology Crash Course, Ellen Jorgensen Ph.D proposes a three sessions course at $300 ($150
with student discounts). The course propose participants to learn how to “isolate mitochondrial DNA
from yourself and amplify it for sequencing using PCR” and to analyze the sequences using
bioinformatics tool to compare samples and discuss ancestry.
This second snapshot briefly illustrates a series of initiatives undertaken by members of the DIYBio
network. Each example is an attempt to put in practice the discourses and promises of an accessible and
open biology presented in the first snapshot. Each in their specific and limited way Aull, Jankowski,
Perfetto, Cowell and Genspace co-founder are experimenting with the establishment of a different
representation of working with biological material, a sort of 'direct-from the producer' biology.
DIYbio initiatives are aimed at enabling any individual to acquire the tools and the knowledge to
engage directly with 'the biological'. Wherever the biological is the pond and the trees behind someone
house, or her/his own DNA. In the latest case the possibility to self assess and establish a entertain an
avocational 'genetic transparency' are promoted.
While the significance or the occasionality of those practices will be addressed in my presentation at
the workshop, in the last section I present some propositions on how the question of 'genetic
transparency' can be considered from the perspective of DIYbio discourses and practices.
Personal biologies and genetic transparency: initial thoughts
In relation to the other works presented at the 'Genetic Transparency' workshop, the people,
places and practices briefly described here can be situated at the periphery of 'direct-to-consumer
(DTC) personal genomics services' (Reardon, 2011), in an emerging zone where 'modern DIY
movements' and biotechnology meet. Grounded in a culturally specific idealism, DIYbio members
promotes the idea that a truly participative lifescience is a 'Do-it-yourself life science'. The values and
practices such 'Do-it-yourself life science' relays upon, are supplied through members identification
with a variety of cultural references, the major are the computer revolution, the figure of the hacker and
the practices of 'information sharing' elaborated within the open source software movement.
The result is an ensemble of practices invigorated by a strong sense of meritocracy and selfachievement. The figure of the expert exists but only in his/her capacity to 'metre a dispositions'
techniques. Learning is presented as a 'peer-to-peer' experience, life sciences procedures are translated
into cool, fun and colorful practices. Accessibility to observation and manipulation is further promoted
through (among other) the design of laboratory tools that are cheaper and which design is
'open'.scientific papers are uploaded on website where they become available for free.
Within DIYbio the possibility to share DNA information and technologies protected by open-source
and free software copyright law is promoted not only as a solution limiting the utilitarian appropriation
of those information by purely commercial initiatives, but also as a requirement for a truly participative
biotechnology. Those practices are still unstable, legally hypothetical and pursued by a social minority.
Yet by considering them as a experimental field where to think 'genetic transparency' those practices
illustrate how elements of the politics of 'genetic information' are imploding with the one of 'digital
information' . Is in the creative interference between the subjectivities informed by the politics of
'digital information' and the subjectivities informed by the politics of 'genetic information' that a critical
perspective of 'genetic transparency' can be elaborated.
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Angrist, 2010. Here is a human being: at the dawn of Personal Genomics.Harper Perennial, London.
Cockerton, C., 2011. Going Synthetic: how scientists and engineers imagine and build a new biology’ – an ethnographic
thesis exploring ideation and innovation in the emerging field of synthetic biology. Ph.D London School of Economics and
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Maker Faire, 2012. About Maker Faire a bit of History. [online] Available at: <http://makerfaire.com/about.html> [Accessed
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Reardon, J. 2011. The 'Persons' and the 'Genomics' of Personal Genomics. Personalized Medicine, 8 (11), pp. 95-107.