Our analysis enabled us to articulate the ethical and research commitments of these communities. Although the groups draw on some similar research methods, and share certain goals, they have differing emphases in their overall approaches and ethos, as well as distinct organizational structures and research priorities. Among the goals that these groups espouse, we have identified and analyzed their varied (and not necessarily unanimous) commitments to (1) rare disease patient advocacy, (2) democratizing access to genomic information, (3) deinstitutionalizing scientific practices, education, and outreach, (4) increasing the affordability of technologies, and (5) re-envisioning research participation and funding. We discuss each of these below, explaining the differences across organizations and analyzing these goals vis-à-vis the ideological commitments and ethos of PDGR’s participants.
Rare disease patient advocacy
PDGR has increased patient advocacy on the web related to rare diseases (Kelty and Panofsky, 2014). A prominent example is MyDaughtersDNA.org, led by Hugh Reinhoff, who developed a website as he sequenced a portion of his daughter’s DNA to investigate the genetic basis of her undiagnosed condition. In our interview, Reinhoff noted that his perception of unmet needs in the rare disease research sector and medical system drove him to establish his own website to conduct research on his daughter’s undiagnosed condition. He explained his efforts: “If we really wanted to know, I had to spearhead the effort myself, and the first step in that was really getting a thorough inventory of her chronicle phenotype.” Reinhoff characterized his site as a forum for altruists and social activists aiming to increase awareness and raise funds for understudied genetic diseases. He has been lauded by others in the patient advocacy world as a trailblazer in inspiring patients and parents of children with rare diseases to create and participate in online communities in order to discuss and investigate complicated diagnoses (Maher, 2013).
Efforts like My Daughter’s DNA benefit from the availability and popularization of web-based social networking platforms and crowdsourcing to engage patients and their families in collecting and analyzing data (Vayena and Tasioulas, 2013b). Because rare disease communities have historically been marginalized by academic, commercial, and federally funded science (Novas, 2015), PDGR aims to develop new health measures, disseminate research to large numbers of participants, and generate results faster than the time frames associated with traditional approaches to genomic research.
However, rare disease patient advocacy, especially in the genetics arena, pre-existed this most recent incarnation. Throughout the 1980s and 1990s, groups emerged to provide support for those with rare diseases (Rabeharisoa and Callon, 1998). During this time, patient groups’ involvement with disease research went beyond advocacy to develop ‘partnerships’ with scientists (Rabeharisoa, 2003). As has been detailed elsewhere, patient groups have turned to ‘evidence-based’ activism to strengthen their cause, developing their own networks of knowledge production that become indispensable to scientists as a way to become ‘insiders’ in scientific research (Rabeharisoa et al, 2014a). Genetic Alliance is the paradigmatic and most prominent example of these types of advocacy organizations. With time, Genetic Alliance also began to advocate for genetic research and, moreover, to place the findings and potential benefits of research directly in the hands of affected individuals (rather than through traditional healthcare, academic, or research-based organizations) (Lambertson and Terry, 2014). Arguably, organizations like Genetic Alliance have led the way for other disease-based and data-driven PDGR movements in the United States.
Democratizing access to genomic information
The perceived value of taking data into one’s own hands is, of course, not restricted to rare disease advocacy. Indeed, all of the individuals and organizations in the participant-driven genomics space are, by definition, founded on this principle. As Kristina Hathaway of DIY Genomics explained:
One of the nice things about participant-led genomics is it allows you to get data on an underserved population or on an unmet need. So you know really rare genetic disorders and conditions that just, they don’t make sense to research commercially, right? […] I think that that’s a really important priority for participant-led genomics … I think that we as a nation are not serving our populous when we make it so difficult to get that information …I think it’s the regulatory environment, and I think it’s continuing to look at this new information through an old lens that no longer serves and no longer fits. It’s like trying to look at the sun with a microscope.
Hathaway’s quote is particularly salient in the realm of rare disease advocacy, which intends not only to hasten the pace of traditional genomic research, but it is also committed to challenging the research regulation and clinical trial paradigm that demands that research generate generalizable knowledge (and therefore applicable to wide populations) rather than personally relevant knowledge (and applicable to very narrow populations).
Through attempts to take genomic research ‘into one’s own hands,’ PGDR advocates challenge the notion that genomic research needs be motivated by the potential for profit or return on investment. Indie Biotech’s Cathal Garvey explained:
The environment in biomedical science is completely corrupted where any work you could do which is of any consequence will never reach a patient because the only people with the money to bring it to market are those with a direct incentive, market incentive, not to cure people. So it’s just, it’s a waste of time.
One point that is pertinent to rare disease advocacy is that research is characterized as underfunded through traditional research mechanisms. This makes more pressing for them the need to take data – and moreover funding – into their own hands. Hugh Reinhoff’s self-funded My Daughter’s DNA drew upon strong professional connections to the commercial genomic research industry to help him sequence his daughter’s DNA outside of the academic and commercial sectors, epitomizing Kelty’s (2010) figure of the Victorian gentleman scientist with the means and connections to conduct amateur research in his salon. While clearly pulling on the same purse strings as traditional research alliances, My Daughter’s DNA demonstrates the still-requisite need for significant social and market capital.
The commitment of the leaders of PDGR organizations we interviewed to open-source principles and data explicitly attempts to challenge the for-profit orientation and traditional revenue streams of commercially driven genomic science. Some organizations we studied, including SNPedia – a Wiki-style site for sharing one’s own genetic information and researching ‘risk information’ related to SNPs – approach this through an emphasis on open access to genomic data. These organizations have benefited from the access policies of private companies such as 23andMe – the most widely used and privately owned platform for PDGR (23andMe, 2014) – to share raw data with its customers. SNPedia, for example, uses the freeware program Promethease to gauge personal information about the propensity to diseases through comparisons with the information in the database, which is curated by a community of anonymous participants. Open participation, open-source computing, and open access to data are fundamental principles of SNPedia as they simultaneously strive to share genetic information with users based on traditional evidence published in scientific literature. As Greg Lennon of SNPedia explained:
We ought to be doing more for ourselves and the world than just publishing things in journals that only other scientists read. You know there has to be some translational mechanism […] There has to be some way so that we can discuss and make available to at least those who are interested to non-scientists, as well as scientists […]Well it seems that if you put billions of dollars into sequencing and trying to understand the point of the genome, then there ought to be numerous ways (SNPedia is one of them) to make it matter to people.
Effectively, the site additionally functions to fulfill the founders’ goals of meeting the translational imperative of genomic research, providing a direct link between institutional science and lay concerns about genomics and fostering the translation of genomic research to the public. However, despite rejecting private ownership of genomic information, SNPedia is not completely disentangled from corporate interests. This group purchases inexpensive server space from Amazon.com to store data uploaded to SNPedia, which raises questions about the implications of shift from private ownership to private storage of genomic data. Furthermore, using the site also requires a certain amount of genetic literacy and knowledge that SNPedia itself does not provide.
Deinstitutionalizing science: Practices, education, and outreach
Groups organized around self-tracking, self-experimentation, and participant-driven approaches in genomics are not solely, or even primarily, focused on concerns about personally relevant hereditary disorders. Self-ascribed as ‘health hackers,’ ‘biohackers,’ or ‘biopunk’ hobbyists, these groups constitute movements of people organized as social networks, and include latter day Victorian amateur scientists (often graduate students and hobbyists), artists, hackers, and software specialists who are guided by a set of goals that are compatible with but an extension of ‘citizen science’ movements and principles (Keulartz and van den Belt, 2016).
Their engagement in genomic research, both online and in physical spaces outside of traditional research institutions, is driven by the wish to be liberated from traditional relationships between research, universities, and the market. They seek to redefine genomic ‘expertise’ and the ownership of data, and to conduct research in deinstitutionalized spaces and develop or access low-cost and shared apparatus and laboratory resources and software (freeware). Their goals are manifold: to engage the public in science, to promote the use of open-source software, to transpose hacking practices into the realm of genomics and synthetic biology, to de-institutionalize research, and to develop innovative solutions to scientific problems or simply matters of curiosity (Delfanti, 2012).
Self-styled and publicly portrayed as being ‘outside the system,’ ‘hipsters,’ ‘geeks,’ and ‘for the people,’ these groups have garnered intense attention from the popular and scientific media for their unconventional approaches to scientific research (Kelty, 2010; Bennett et al, 2009). As Eri Gentry, one of the founders of bioCURIOUS, a California-based DIY citizen science organization, explained:
I don’t really want or need somebody else to tell me how to (1) do my research or (2) live my life, or whatever it is. Like different sorts of fundamentals, and whatever the belief is or whatever your personal reason is, there are some like shared aspects of these cultures. Like a dedication to transparency, to open source, to lowering the cost of access, freedom of data. So you know if you looked across the forums of DIYbio and Quantified Self, as well as like the computer hacking (hacking in positive way) communities, you’re gonna see those threads appear again and again.
One of the groups mentioned by Gentry – DIYbio – was intentionally organized (in 2008) to become a home for ‘outlaw’ biologists functioning primarily outside the academy and industry and working to demystify scientific systems and protocols (Kelty, 2010). DIYbio (whose logo is a fist with a pipette) (www.diybio.org) embodies the ‘biopunk’ spirit in that it uses community spaces – from garages to kitchens, closets, and schools – to provide lay biologists and engineers with the know-how and tools to conduct genomic research cheaply, investigate their own questions, share data with peers, and form communities around the values of openness in knowledge production (Ledford, 2010a, b; Keulartz and van den Belt, 2016).
Indeed, in our interviews, founders of bioCURIOUS similarly characterized their approach as a commitment to “radical openness” – from passing a hat at meetings to raise the funds to buy software, to designing a community-based laboratory space, to delineating democratic procedures for storing equipment and materials – which is meant to disrupt the traditional hierarchy of knowledge production, organization, and control in the laboratory. As Raymond Macauley from bioCURIOUS describes:
….and the lab by literally architectural design is open where they are no walls between work spaces. All of the storage is transparent, literally these clear plastic tops. We ripped the doors off of a storage cabinet so you can see what’s in there, and mostly that’s just to make things easier to find, but it’s also…to promote sort of a radical openness that it’s such a different lab design because you don’t have one person in charge of it saying ‘This is what you will do and won’t do and we’ll organize it this way and that way.’
We see here the metaphorical and literal use of “openness,” where the open lab space design and shared ownership of equipment reflects the underlying ideological commitments to deinstitutionalizing science – a commitment to doing science differently once it is wrested away from academic and other institutions and put in the hands of a community. Whether this architecture is largely symbolic or materially transformative is an open question, but this was a conscious decision to disrupt materially conventional ways of ‘doing science.’
These groups also wish to disrupt conventions related to the control of data by academic ‘experts’ and as well as the monopoly of big corporations over genomic information. Bergen McMurray of HiveBio explained this commitment:
As people become more informed and are less dependent on a small handful of experts to tell them about their own bodies […] I mean I think that anything in medicine and biology should definitely be expert-driven, but I think there’s room for a lot more experts in the world than there are now.
This marks an important difference in their demarcation of ‘experts’ and the definition of ‘expertise’ not being confined to or contained within academia or even those with advanced academic degrees. Importantly, educational outreach is at the core of DIYbio groups: they see it as a moral imperative to reach out to, and inform, lay amateurs about genomic science methods and ethics, to help them take science ‘into their own hands’ in asking and answering questions about their health, and to encourage them to contribute their data to large-scale studies on health and disease outside of universities and companies. In describing their mission this way, they challenge the idea that science must be conducted, and decisions determined, inside the ‘ivory tower’ by ‘elite’ experts. As Raymond Macauley of bioCURIOUS articulated:
There’s part of that that’s sort of a distrust of authority or you know ‘Let’s pull these technologies out of the ivory tower’, but I would say it’s not even so much a reaction against authority as it is a belief in grassroots, a belief in you know ‘I’m the best monitor of my own health. I’m the best judge of what I should do about it, and I don’t necessarily want to go to someone who sits in a big chair with a fancy degree to tell me what to do. I want to know and understand and take that action myself.’
These practices have elicited anxiety among governments and regulatory bodies (e.g., FBI and the Presidential Commission on Bioethics) due to concerns about biosecurity and safety (Bennett et al, 2009; Whalen, 2009). However, these groups countered with the argument that their practices foster much-needed public education on genetics and scientific citizenship (Delfanti, 2012). In our interviews, spokespeople for DIYbio describe their spaces as hubs to engage lay people in the skills and familiarity to understand genomic science, debate its implications, and equip them with the tools to participate in everyday decision-making in our technoscientific societies. For example, the group in Los Angeles offers courses on basics of polymerase chain reactions (PCR), teaching participants to sequence their own DNA from cheek swabs and discover predispositions to illnesses; the New York City group, called Genspace (2014), has a “PCR and Pizza” night and “Biohacker Bootcamp,” and the Brooklyn group has a storytelling evening (a cross between biotech and sci-fi class).
Increasing affordability of technology
Democratizing genomics through low-cost and open-source technologies are core philosophies of like-minded PDGR organizations. As Cathal Garvey of Indie Biotech explained:
I was very heartened recently to get an email from a guy in West Africa saying […] ‘Where I live, genetic testing is beyond our means. We can’t afford it’ […] and he was asking me give him the price of my lab […] saying ‘I saw how much it took you to set up your lab, and it seems you might be able to do this […] I’m going to reply to him this evening saying ‘I’m not in a position to do genetic testing, but I would be eager to help you set up your own genetic testing lab.’ And that is validating for me. […] There are people out there who want to do this, who are trying to do this already, and as soon as I can come up with a tool kit that self-replicates, I will have to get back to them saying ‘For now it’ll be difficult.’[But soon] I’ll be able to say ‘Here you go. Take this. Run away.’
Garvey’s eagerness to help represents his and others’ belief that wresting genetic technologies away from traditional manufacturing, and moreover, commercial patenting, will revolutionize global access to genetic testing in a way that obviates the need for traditional experts or traditional labs. While some may see this as a naïve reading of global science and global marketing, there is no reason to doubt his sincerity in wanting to make this happen.
Similarly oriented, openpcr.org is a web-based company that sells DIY kits for building thermocyclers to run PCR for DNA sequencing at considerably cheaper prices than those sold to universities and biotech companies. As co-founder Josh Perfetto explained:
Initially we were actually just going to make an open source design and not even sell kits, but then I saw that if we didn’t sell a kit, it would be too hard for everybody to build or nobody would build it. So it was designed for these makers, DIYbio biohackers, and what’s really interesting is today I would say about 90% of the sales are actually going to institutions […] biotech companies, educational labs […] I think that partly also it’s just kind of the economics of the thing. I mean, if you’re a biotech company, $600 is nothing. I mean that’s what [they spend] every day for reagents, whereas if you’re a home hacker that’s still quite a bit of money. And there’s not honestly that many biohackers out there today [but] there’s a lot of biotech companies, but I was surprised by their acceptance of this kit, because there is a machine you have, and then we sell the kit. You have to build it yourself, and I didn’t think that too many people in a professional environment would be interested in that and I was surprised to learn that that’s not true actually. I mean some people, or quite a few of them actually, have a genuine interest in kind of building things themselves and doing DIY-ish things, even if they’re in a professional setting, and then for others they’re just, you know it’s such a cost-conscious setting that if it takes three extra hours to build it, that’s fine given the cost savings.
Openpcr.org illustrates what Delfanti (2012) characterized as a notable contradiction in the values of many of these groups. In this case, on one hand, the ‘hack’ was to undercut PCR machines on the market, and to make them open source and relatively cheap. On the other hand, the very biotechnology companies and research institutions that members of openpcr.org initially aimed to subvert are now buying their low-cost PCR kits. The politics of these groups are therefore often paradoxical: they aim to undermine intellectual property rights and monopolies of capital and power in biotechnology, yet these organizations are often simultaneously eager to establish small start-ups which will compete with the big biotechnology companies, and maybe even become one of them. Macauley characterized the receptiveness of bioCURIOUS – a Silicon Valley-based biotech hackerspace – to such eventualities as reflective of its open-science ethos: “We care to be fairly radically open science. People come in, and if somebody wants to work on something and commercialize it, they’re free to do that.”
The spirit of bioCURIOUS, DIYbio, openpcr, SNPedia, and biohackers is therefore both subversive and entrepreneurial: biohackers draw from the mythologies associated with the start-up success of Silicon Valley – Google, Apple, etc. – while simultaneously critiquing the hierarchy and profit incentives of universities and corporations (Delfanti, 2012; Wohlsen, 2008). Like their Silicon Valley heroes, they embrace open information sharing, non-competitive collaboration, and market-deflating ‘hacking,’ but only until there is money to made. At that point, their libertarian spirit equally easily justifies joining the market to capitalize on their work for financial profit. In this way, their political economy operates very much like traditional genome science, where data-pooling and the free flow of ideas is endorsed right up until the intellectual property involved begins to show signs of scientific value.
Re-envisioning research participation and funding
While many of the PDGR groups discussed thus far explicitly position themselves outside of mainstream scientific channels and in opposition to the elitism of university research departments, other groups operate in partnership or as part of academic science. These groups largely engage PDGR through re-imagining what it means to be a research participant in an academic setting, and challenging traditional research funding paradigms.
The open-data Personal Genome Project (Personal Genome Project: Harvard, 2014), for example, has been a forerunner in participatory genomic research, with participants being described as “co-drivers of the project” (Angrist, 2009). Initiated in 2005 by Professor George Church, the aim of the project is to collect genotypic and phenotypic data of 100,000 people in the US, Canada, and UK who consent to making their personal genomic information publicly available as a research resource. Church described how the Personal Genome Project (PGP) re-envisions the traditional researcher–subject relationship as a partnership:
You need people that are providing infrastructure and making decisions with the IRB and so forth. So I would say PGP is slightly more on the researchers leading more than the participants, but it’s intended to be a partnership where the leaders in a certain sense are doing work for and in a way are employees of the participants, but we’re not providing a service, so then it’s much more of a partnership.
The project, whose first ten participants (“PGP-10”) famously donated samples for analysis between 2006 and 2007 (Harmon, 2008), has been influential in guiding debates about the ethical and legal aspects of sharing genomic information. In particular, the PGP has challenged guidelines and regulations governing human subjects research that have held dear the exceptionalism of personal genomic information and importance of individual genetic privacy. To enroll, participants must provide open consent – foregoing privacy protections in favor of full disclosure of personal genomic information – which makes it impossible to guarantee participant anonymity because of the potential to re-identify individuals through their DNA sequence (Angrist, 2009). Interestingly, several students and researchers who were associated with Church’s Harvard laboratory have gone on to become active figures in the domain of DIYbio.
Another individual involved with the Church lab and PGP, Dan Vorhaus, established his own website, www.genomesunzipped.org, designed to educate the public about legal aspects of ownership of genomic data and research. In describing the drive to re-envision the researcher–participant relationship in genomics, Vorhaus explained:
I still today get frustrated with the strains of paternalism that I see sometimes in scientific and medical research where there are still studies that are structured in a way and still I think advocates of a kind of research model that would shield individuals and shield participants from knowing certain things, from being able to access certain information, whether on the front end when they’re deciding to participate or not, or on the back end when they are being offered the chance to learn about the research in which they’ve participated. I think that ultimately that kind of model, the limited knowledge or the limited access model, may be desirable, may be appropriate for many people, but I think they should have the opportunity to choose. I think it should not be imposed upon them.
This is both a statement about how PDGR challenges research ethics and policy, as well as aspirations for how research epistemologies may be reshaped through participant-driven research efforts. Our informants did not view the re-imagining of the researcher–participant relationship as novel. Rather, it was framed as a necessary step in addressing previously unanswerable and ‘unfundable’ research questions.
In fusing traditional research with non-academic entities and methods, the American Gut Project is a paradigmatic illustration of the hybrid nature of recent large-scale PDGR projects meant to remediate some of these problems (Human Food Project, 2015; Costandi, 2013). Using crowdsourcing and crowdfunding strategies to collect and analyze individuals’ gut microbiota, the American Gut Project was conceived by academic researchers, including Rob Knight at the University of Colorado at Boulder and Jack Gilbert at the University of Chicago. Knight explained their need to depart from traditional approaches to microbiome research:
One ongoing frustration with typical studies of the microbiome, either funded by the government or funded by private foundations, is there’s very little way for the public to participate because typically for any given project we have a very carefully defined set of exclusion criteria and most people are going to be excluded by those criteria. So, for example, the Human Microbiome Project wound up being primarily a study of medical students in their 20 s at Wash U and Baylor. […] We knew for sure that the microbiome changes with age, with health status and with population and a lot of those factors just weren’t being covered in the amount of time and the amount of expenditure […] in the context of a traditional grant application process. It was gonna be far off into the future.
In this sense, the American Gut Project styles itself as departing from traditional, exclusionary approaches to research that limit eligibility to college students, and as shaping the ‘future’ of biomedical research by expanding recruitment processes and enlarging the conception of the ‘eligible’ research subject. This, in turn, aims to diversify results and their generalizability, and ultimately increase the robustness of knowledge production.
To appeal to more traditional funders, this project utilized an approach to sourcing the materials and funding that can simultaneously be characterized as more democratic and more entrepreneurial than the typical university-based genomic research project. Research samples are processed at the University of Colorado, but the project itself has been crowdsourced and crowdfunded by the general public (especially by participants who have volunteered to join and provide specimens) as well as private biotech companies. Gilbert described how the power of crowdsourcing genomic research relies on the accessibility of personal computing and digital technologies:
Without the democratized use of computing, there’s no way we would be able to simulate the knowledge that we can gain from this kind of investigation. So without the Internet, without web-based tools, without technological advances in access routes to knowledge and information, there’s no way this project could ever transform into the potential we hope it will have, but you know I guess, yeah, in light of that, this kind of discovery-driven science has real transformative potential because of the technological advancements in data access and accessibility have really enabled people to be able to equip themselves with the knowledge that they need at a given time point. This I guess opens up more avenues whereby people may be interested in this research providing us with a bigger population, a bigger sample size to access.
A significant need and subsequent benefit of participant-driven research is the availability of large volumes of ‘big data.’ Academic research groups have also taken advantage of this method to tap anonymous participants’ ‘brain power’ through online games (Good and Su, 2011). For example, researchers at the Departments of Biochemistry and Game Science at the University of Washington developed an online protein folding game in 2008 (Foldit, 2014; Khatib et al, 2011). With over 240,000 registered players, participants’ pattern recognition and puzzle solving skills provide steps towards solutions for the design of protein structures relevant to drug development for diseases including HIV, Alzheimer’s, and cancer.
These rapidly expanding and highly publicized projects reflect changes to academic research in structural genomics rather than emerging primarily from PDGR groups themselves: these studies employ discovery and data-driven methodologies, rather than more traditional hypothesis-driven approaches, and non-traditional strategies for sampling, funding, and knowledge transfer. Firas Khatib of Foldit illustrated how these new collaborations pose both opportunities and challenges to traditional conceptualizations of credit-sharing in academic research:
There are three players that solved the monkey virus protein and we were sure they they’d want to be co-authors on our paper and we offered that to them and they said ‘Oh no. No, thanks. That’s okay. If you like, we’d love it if our Foldit team name (they’re on a big team with like 20 players), if that could be a co-author on the paper’, and so that’s how we published the paper […] and it was you know really very nobly and kind of un-academic, I’d say.
The implicit internal critique embedded here is that traditional models of academic credit with individual authors jockeying for position lacks nobility. The ethics and notions of credit-sharing within participatory projects like Foldit encourage what Khatib and others see as humble and commendable behaviors. Notably, the idea of ‘group’ credit is possible for those who are outside academia and whose livelihoods are not dependent on the economy of manuscript authorship and credit.
These hybrid practices are built on new interdependencies between research departments, private investors, and individuals – and they bring new regulatory questions related to research practice, credit-sharing, and ownership over products and findings, and the need for researchers to be both calculating and entrepreneurial in framing their research approaches (Rajan, 2006).