I’m no longer accepting the things I cannot change. I’m changing the things I cannot accept.
—ANGELA DAVIS
ONE OF THE WORLD’S FIRST INKLING OF THE DISEASE THAT WOULD EVENTUALLY become known as AIDS was a headline in The New York Times on July 3, 1981: “Rare Cancer Seen in 41 Homosexuals.”99 Before the end of that year, AIDS would be recognized as an epidemic.
By 1987, there was only one AIDS drug with federal approval, azidothymidine (AZT), and activists in the Gay Men’s Health Crisis, which formed in 1982, wanted more options; they wanted a cure. By that point, more than forty-six thousand Americans were infected with HIV, the virus that leads to AIDS, and many of the thirteen thousand already deceased were being honored in panels on the AIDS Memorial Quilt. In 1989, the quilt was nominated for the Nobel Peace Prize; today it contains over 48,000 panels, each a colorful three-by-six foot memorial. As some people mourned and pieced together the quilt, others pieced together what was needed to discover effective treatments quickly.
Starting in the late 1980s and continuing to the present, AIDS activists have organized numerous demonstrations to speed the process of drug approval and transform medical science to make it responsive to the AIDS crisis. In 1988 it was Seize Control of the FDA, organized by ACTUP (the AIDS Coalition to Unleash Power): splattering blood at the doorstep of the US Food and Drug Administration (FDA), activists demanded rapid approval of experimental drugs to treat AIDS and the ability to try treatments from other countries because AZT and other drugs were not effective enough. Next ACTUP turned its attention to the National Institutes of Health (NIH). On May 21, 1990, for example, about a thousand activists attended a demonstration called Storm the NIH. Instead of a sit-in or teach-in, the standard peaceful choices for activists in the 1970s, they staged a die-in, lying on the ground as if dead, some next to mock tombstones. ACTUP held die-ins not just at the NIH but also at numerous pharmaceutical company headquarters. Today when the pharmaceutical industry spends over $27 billion per year advertising and pedaling new drugs to people,100 it’s difficult to imagine a time when the public found it necessary to demand pharmaceutical companies make more types of drugs. At the push of activists, the NIH and big pharma made new drugs, and the FDA changed its regulations so that drugs were evaluated more quickly. Activists reduced the time frame for testing the safety and efficacy of AIDS drugs so they could count down time until FDA approval in months rather than years.
It was the development of the HIV antibody test in 1985 that propelled some activists into science. Anyone could take the HIV antibody test and learn they were infected before showing any symptoms, yet still, four years into the epidemic, there were no effective treatments and a positive test result was a death sentence. Since the gay community was most affected, and was already overflowing with seasoned activists, it organized efficiently to search for a cure, working with many types of scientists: immunologists, virologists, molecular biologists, epidemiologists, physicians, and biochemists. These activists realized that there was one primary goal in seeking help through these credentialed scientists, the only goal that mattered against a ticking clock: speed. Treatment delayed was treatment denied.
AIDS activists fundamentally reformed the clinical trials of AIDS research in the late 1980s and early 1990s. They became credible agents within the scientific community, viewed as partners to AIDS researchers. These activists reveal an entirely different idea of what citizen science can mean. So far, we’ve used the term citizen science to describe various ways laypeople collect or analyze data to advance research; the term is also used more broadly to describe ways that laypeople participate in and influence the practice of science. Indeed, the term was initially coined by Alan Irwin in 1995 to mean just that. This type of citizen science requires scientists who are receptive to public needs and concerns—“public scientists,” as Rob Dunn (chapter 6) calls them.
Irwin, a British sociologist, introduced citizen science as a way to describe a more democratic, participatory science. Science may seem to be carried out within institutions insulated from society, but it is deeply embedded in a social matrix. Irwin emphasizes that science is a human creation. Nevertheless, it is not perfectly situated in society, and certain aspects of science are driven by institutional forces like commercial markets, politics, and hot trends in academic publishing that do not necessarily represent the needs and desires of the general public. Irwin’s work—published in a 1995 academic book titled Citizen Science—addressed this issue by analyzing two dimensions of the relationship of citizens with science. The first is that science is for the common good and should seek to address the needs and concerns of people. The second is that the process of producing reliable knowledge can be enhanced by laypeople. Irwin wrote, “People bring into science such things as local contextual knowledge and real-world geographic, political, and moral constraints generated outside of formal scientific institutions.”
Let’s look at an example of AIDS activists as citizen scientists. Because the activists weren’t collecting data as we’ve seen with other citizen scientists, they fit into the concept of citizen science later described by Irwin. Consider Mark Harrington, a screenwriter with no scientific background. Harrington, an early member of ACTUP, took part in protests in order to draw public attention to the AIDS crisis, but he also sought to change scientific practices. He grabbed every resource he could—textbooks, journals, medical reports—and taught himself enough of the technical details of AIDS so that he could participate knowledgeably in scientific discussions. In January 1992, members of ACTUP’s Treatment and Data Committee, including Harrington, left the group and founded Treatment Action Group (TAG), a nonprofit organization focused on accelerating AIDS treatment research.101 That same year, Harrington delivered his first plenary address at the Eighth International AIDS Conference. He began coauthoring peer-reviewed papers, and has continued to publish to the present day.
How did Harrington go from street demonstrator to scientific collaborator? In an insightful dissertation (and eventual book, Impure Science: AIDS, Activism, and the Politics of Knowledge), Steven Epstein, now professor of sociology at Northwestern University, described exactly how AIDS activists like Harrington took a four-pronged strategy to gain credibility and authority.
First, AIDS activists learned to speak the language of researchers, entered the culture of medical science, and then transformed it. As with learning a foreign language by spending time in another country, immersion was best. Activists attended conferences, critiqued research papers, found tutors to help them understand cell biology. Harrington prepared a fifty-page dictionary of the vocabulary relevant to AIDS research. Once activists could speak the language of viral assays, reverse transcription, cytokine regulation, and epitope mapping, scientists were more receptive to engaging in discussions.
Second, activists presented themselves as the voices of people who were suffering from HIV/AIDS. They were the brokers, ensuring that researchers could enroll enough HIV-positive people in their treatment trails and helping the participants to understand and comply with experimental treatment protocols. People with HIV/AIDS needed researchers, but researchers needed their help and cooperation too. Thus, activists gained leverage when negotiating the finer points of clinical trials.
Third, early AIDS activists changed the way clinical trials were carried out. Early trials were limited to middle-class white men; that didn’t make sense given that populations affected by AIDS also included drug users, hemophiliacs, women, and people of color. Federal (and international) laws requiring ethical oversight of clinical trials were designed to protect trial participants from harm, particularly those in vulnerable communities. The laws, which even today are highly paternalistic, were predicated on myriad past abuses in medical research in the United States—in particular, a study of a different sexually transmitted disease.
In 1965, Peter Buxtun, a social worker and epidemiologist, began working for the US Public Health Service. I don’t know what was printed on his business card, but his job was venereal disease investigator. Within a year he began calling for an end to the long-term Tuskegee Syphilis Experiment (officially called the Tuskegee Study of Untreated Syphilis in the Negro Male). In the Tuskegee Syphilis Experiment, which began in 1932, hundreds of black men with syphilis were deceived into believing they were receiving health care; instead, they were studied while doctors withheld medical treatment. Even after penicillin was found to cure syphilis in 1940s, after Buxton voiced concerns in 1966 and again in 1968, after William Carter Jenkins called for the experiment’s end in 1968, and even as wives and children were becoming infected, the Communicable Disease Center insisted the study go to completion.102 “Completion” in this case meant all study subjects had died and been autopsied. The Tuskegee study was no secret among scientists. They published research papers, and doctors reading scientific journals knew exactly what was happening, but the public did not. The only way to end the study was to let the public know. In 1972, Buxtun “leaked” details to the press, and public outrage triggered congressional hearings. As a consequence of this egregious violation of the Nuremberg Code, the Declaration of Helsinki and, of course, the Hippocratic Oath,103 the US government now mandates ethical oversight of research with human subjects.
The laws do protect human subjects, but quite often, individuals and communities under study have learned that they also need to protect themselves. Self-determination in research has given rise to the mantra of community-based public health research, a slogan that embodies citizen science philosophy: “Nothing about us, without us.” Ironically, the nature of legally required institutional oversight can inadvertently undermine the spirit of the law. For example, human subjects of research are “protected” by not having ongoing contact with researchers, and by not receiving information about their personal data. Those kinds of rules may protect passive volunteers, but they restrict the autonomy of engaged participants. In citizen science, an ongoing relationship between scientists and community members is essential, as is the sharing of data collected.
AIDS activists were handed clinical trials carried out by a system that was overcorrecting for historic abuses. But this was not Tuskegee, Alabama, anymore. Instead, activists were championing the idea that experimental treatments were a social good to which everybody should have equal access. They convinced researchers that people have the right and autonomy to assume the risks of experimental therapies and be informed partners in research.
Fourth, activists improved AIDS research by influencing the design, conduct, interpretation, and speed of clinical trials. Researchers used to carry out only randomized, controlled, clinical trials, and many of the controls limited access to potentially helpful treatments. Why should any patient with a terminal illness be given a placebo, and why should a patient who had already tried one treatment be disqualified from trying another? Researchers wanted clean data from highly controlled experiments. But the real world is messy. Activists convinced researchers that drugs should be tested in real-world situations with heterogeneous groups. Not only was it fair, but the answers would be quick and more reliable. The only way to obtain clean data in a messy world was to unfairly manipulate and control people. By emphasizing that AIDS clinical trials were simultaneously research and medical care, activists knocked years off the time frame for testing the safety and efficacy of AIDS drugs.
The configuration of citizen science participation is almost as varied as the ways proteins can fold. On one side of the coin, citizen scientists play video games and donate their spare computational power to speed the process of finding effective ways to treat a range of diseases; on the other side of the same coin, citizen scientists reform research to make it responsive to their needs.
AIDS activists were the type of citizen scientists described by Irwin. They gained the type of authority that usually comes from academic degrees, and they went from diseased victims to activist experts. Today such activists serve on institutional review boards of hospitals and research centers. They are representatives at FDA advisory committee meetings where drugs are considered for approval, and they are voting members of NIH committees that oversee drug development.
AIDS activists are one extreme example on the spectrum of the citizen science participation. After all, most diseases don’t strike preexisting interest groups. Gay men and lesbians were well positioned to become AIDS activists; they were already politically organized thanks to the gay liberation movement of the 1970s. They were already pursuing civil rights, and they had already “demedicalized” gayness. They had resources, people of influence, funding, a strong public relations arm, lobby groups, and community organizations. This was what strong social networks looked like before the Internet.
But with the Internet, even more connections are possible. Many diseases create disabilities that prevent people from physically gathering, but via the Internet they can form social networks to advance research on their disease. Citizen science is filling the prescription for social networks among individuals managing chronic illnesses. This dose of citizen science is called patient-led research.
Online social networks can help medical research on rare disease. For example, there is a rare cancer, gastrointestinal stromal tumor (GIST); its propensity to metastasize rapidly makes it very deadly. Because it occurs in fewer than fifteen out of every million people, researchers have difficulty getting a sufficient number of patients together for clinical drug trials. In 2000 the drug company Novartis initiated a clinical trial for its new drug Gleevec, for which it needed eight hundred patients. An Internet-based nongovernmental organization, the Life Raft Group, collaborated and gathered data from GIST patients around the world taking the drug—dosage, side effects, response to treatment, and even mortality rates. Although it was not a randomized trial, it was a larger sample than had ever previously been possible. This was citizen science on human subjects, where people contributed data about themselves. In this case, the data showed that those taking a low dose of Gleevec died, and those taking high doses lived longer.
Another example is amyotrophic lateral sclerosis (ALS; also knowns as Lou Gehrig’s disease), for which Stephen Hawkins (the one scientist people are most likely to have heard of, according to polls) is an anomaly. Hawkins was diagnosed with ALS when he was twenty-one years old, and has surpassed all odds by living as long as he has (he is now in his mid-seventies). Tens of thousands of people, across all racial and ethnic groups, are diagnosed with ALS annually and their fate is, more typically, death within five years. PatientsLikeMe (PLM), a sort of Facebook for disease research, was started in 2004 by two brothers, Jamie and Ben Heywood, and their friend Jeff Cole. The Heywoods’ brother, Stephen, had fallen to ALS. PLM enables social networking for the sharing of medical experiences, data, and insights. It is sustainable as a for-profit company because medical data, as well as access to patients, are commodities to medical and pharmaceutical researchers. PLM is citizen science because, as we’ve seen before, it is necessary to share data, to bring minds and experiences together—particularly when time is of the essence.
PLM embraces the principle that getting data into more hands will speed the pace of medical research and improve the health care system. The PLM business model is to have pharmaceutical companies and medical researchers as customers because these groups are willing to pay for access to a network of patients interested in advancing research on treatments. Over 350,000 people share information on over two thousand illnesses in the PatientsLikeMe network, and patients learn from other patients. They learn to navigate their relationships with health care providers, and they help pharmaceutical companies bring treatments to market in record time.
People never lie down and die without a fight, and in the age of the Internet, they do not have to fight alone. In 2008, clinicians in Italy presented research results at a prestigious health care conference, showing data indicating that lithium delayed the progression of ALS. Their sample size was small, only sixteen patients, so it could have been a fluke, but the report was intended to encourage further research by other clinicians.
An ALS patient in Brazil, Humberto Macedo, used Google translate to read the conference abstract. Word spread among ALS patients, and many wanted to try lithium treatment. They could get lithium from friends or sympathetic pharmacists because the drug is widely used to treat bipolar disorder. Macedo started a website to recruit ALS patients into a clinical trial with the drug—a clinical trial designed by participants.
When PatientsLikeMe saw the ALS patients organize for an experiment, it decided to modify its website to accommodate the patient-led clinical trial. PLM was not condoning or condemning the choices of those with a terminal illness to carry out an unsupervised medical experiment. Rather, given the fact that the patient-led Lithium trials were going to happen, it wanted to make sure the symptoms of the disease and side effects of treatment could be reported in a consistent manner with standardized scales because that makes for better data. The group wanted to make sure that the study would produce good science that would benefit other patients and researchers in the future.
In addition, PLM created an algorithm to match each patient self-administering the lithium treatment with three to five people who were opting to not self-experiment so that the experiment would have a control group. In a few months (which is a large fraction of the time ALS patients typically have left) there were 160 participants.
The cooperation put into the research was incredible and inspiring, but the outcomes of this citizen science experiment were not. Sadly, the patients did not get the same results as the Italian clinicians had. Lithium didn’t work to slow ALS, and it might have made things worse. ALS ran its course. When citizen scientists allow themselves to be the subject of the research, they let their bodies supply the data. Macedo and the others died making a valuable contribution to medical research.
Citizen scientists who are not terminally ill also participate in clinical trials within PLM. For example, another PLM community has formed around epilepsy, which affects over two million people in the United States. A traditional approach to help epilepsy patients manage their condition, which is frequently accompanied by depression, is for health care professionals to contact people by telephone via the Managing Epilepsy Well Network. But it turns out that patients benefit more from helping each other. Through PLM, those with epilepsy track their health and share the reporting of their symptoms and treatments with other patients just like them; they share their experiences and their data. PLM has created tools specific to the epilepsy community with sponsorship from pharmaceutical company UCB, and every epilepsy patient on PLM can see health records of every other patient who opts to share. Patients learn more about their own illness through this type of sharing, and they get support from others dealing with the same conditions. The result is improved health outcomes; for example, 55 percent of epileptics in the PLM community agreed they learned more about seizures, and 27 percent said PLM helped them stick to their medication. Almost 20 percent said that participation in PLM caused them to need fewer visits to the emergency room. Remarkably, almost 30 percent said participation in the PLM social network reduced the negative side effects of their medications.
Data about personal health that doctors collect, even during routine visits unrelated to research studies, are protected by two federal laws: the Health Information for Economic and Clinical Health Act and the Health Insurance Portability and Accountability Act (HIPAA). HIPAA does not extend to online social networks like PLM, but PLM abides by the spirit of HIPAA anyway by removing all names and information that would allow a person’s identity to be revealed before selling data to the pharma, biotech, or insurance industries. When it comes to medical data, a high level of mutual trust and transparency is needed for people to share their information. Put individuals in control of their personal data so that they own it and can loan it, and then the benefits begin to outweigh the privacy risks.
In a 2014 survey of social media users, 94 percent were willing to share their personal health data anonymously with doctors in order to improve the care of others with similar problems. Almost as many, 92 percent, were willing to share their data with researchers. An overwhelming majority were willing to share with drug companies, with slight differences related to how the drug companies would use their data: 84 percent were willing to share in order to help drug companies make safer products, and 78 percent if it were to learn about diseases. At the same time, three-quarters of respondents suspected their health records could already be used without their knowledge. People were concerned about negative consequences, with 72 percent worrying that their records could be used to deny them health care benefits, 66 percent believing records could be used to deny them a job, and 61 percent worrying that their data could be stolen.
When researchers were solely in charge and patients were kept in the dark, there were heinous abuses in medical research. The consequence of those abuses is the paternalistic system of institutional oversight of professionals carrying out research with human subjects. How does oversight work if research is patients led? How can patient privacy be protected in the Internet age? How do the benefits of open data weigh against the privacy risks? The solutions to these ethical quandaries will find their way through citizen science practices. Ultimately, if you want to provide clues to the answers to medical questions, you may have to raise your hand and be counted.
Here’s an example of the speed of research made possible by a repository of medical data. Sally Okun of PLM led a 2013 study about MetroHealth Medical Center in Cleveland, Ohio, and its partnership with an analytic company called Explorys. MetroHealth is a safety net hospital, meaning it provides care to the uninsured and people with low income, and it is affiliated with Case Western Reserve University School of Medicine. With MetroHealth, researchers compiled fourteen million medical records, from which Explorys could replicate a longitudinal Norwegian study of heart disease risk. A longitudinal study is one that follows select individuals over time, rather than a cross-section of the population at once. In Norway, researchers followed more than 26,000 individuals for thirteen years and found that the risk of blood clots was highest for men and linked to obesity and height. In the MetroHealth /Explorys study, researchers could see the same patterns within three months of sifting through the data because the information had already been collected incidentally as part of routine health care. Plus, they had almost one million relevant records, so their estimates of risk were more precise. The Norwegian study costs millions of dollars; the MetroHealth /Explorys study of “big data” had a price tag of only $25,000.
The field of public health, which is aimed at preventing disease and promoting human well-being through research, education, and organizing, is also breaking ground with citizen scientists who are not patients. Many don’t want to steer research agendas but simply want to lend their time toward helping. They don’t necessarily need, or want, to understand diseases, and they may even avoid understanding the details of diseases and their symptoms to avoid triggering hypochondriac tendencies. But with high stakes and no time to lose, thousands of people are analyzing data by making their way through online tasks, which leads to the faster development of new treatments.
The goal of leading cancer research charity Cancer Research UK is to ensure that 75 percent of patients survive cancer by 2035. It plans to do this by focusing on cancer prevention, diagnosis, treatment and through the optimization of cancer care. Personalized medicine, which aims to find the best possible treatment for each patient by examining the biological details of the patient and his or her cancer, is a key aspect of this strategy. Researchers do this by looking closely at the patient’s genes, and the genetic makeup of the cancer cells.
There are over two hundred forms of cancer, and Cancer Research UK supports research into all of them, with a special focus on cancer types that are poorly studied and/or hard to treat—in the latter case, specifically lung, pancreatic, esophageal, and brain cancer. Around half of us are predicted to get cancer at some point in our lives, so it’s a disease that has a very real impact on everyone. Public interest in cancer research was one reason why Cancer Research UK began tapping the potential of citizen science.
Cancer researchers were also in desperate need of citizen science to help them in their work. Increasingly, scientists are using technology to quickly process lots of samples and collect large amounts of data to help them better understand cancer and develop useful treatments. There are so much data around that there aren’t enough scientists to keep up. In cancer pathology research, which involves studying samples of cancer cells under a microscope, there is a major backlog of samples in need of processing. Professional pathologists are busy full-time in clinics and hospitals to help diagnose cancer, leaving tens of thousands of samples intended for research that are prepared each year but wait for examination. Worryingly, the number of people training to be pathologists has fallen, which means that there are very few trained professionals available to study these samples. Given that there are millions of samples waiting to be examined, not enough pathologists to do the work, and computer algorithms not yet advanced enough to automate the analysis of these images, citizen science has been a great alternative.
For this emotionally heavy subject Cancer Research UK relies on the help of over 500,000 citizen scientists doing things like playing specially crafted video games to help understand the disease. At end of 2014, the research charity celebrated the equivalent of fifteen years of collective volunteer time that was squished into twelve months. By the time the program closed in March 2016, it had released four citizen science projects to the public, amassing over eleven million individual analyses from people in 182 different countries. It also showed that results of greater than 95 percent accuracy could be achieved through citizen science, proving that citizen science could be a viable option for the analysis of cancer genome and pathology data.
Cancer Research UK citizen science projects follow a similar model to Galaxy Zoo (see chapter 4) in that they have samples already collected by professional scientists and ask citizen scientists for help to study these samples.
One project, called Cell Slider, is hosted by Zooniverse (see chapter 4) and has engaged ninety-eight thousand participants in contributing close to two million analyses of over twelve thousand samples collected from around six thousand breast tumors. Cancer Research UK has stores of thousands of tumor samples that are dissected to create millions of photographs. Each sample came from a patient for which the associated researchers have information on treatment and outcome.
Each photograph shows blood cells, tissue cells, and cancer cells.104 By drawing the help of online crowds, researchers were able to analyze data much faster than would typically be possible in the lab. Using treatment and outcome information from these former patients, together with the information from citizen scientists, allows researchers to achieve better foresight to improve treatments and personalized medicine for future patients.
While Cell Slider was a fairly standard online citizen science project that simply presented images and asked scientific questions, Cancer Research UK went on to look at the potential of building citizen science into computerized games. The charity’s hope was to engage more people in citizen science for cancer research by making its projects fun and portable while giving players a feeling of progression and improvement as they played, thus encouraging them to keep playing.
In March 2013, Cancer Research UK sponsored a forty-eight-hour competitive hackathon, called GameJam, to develop its first game. It challenged forty competitive computer programmers and hackers, working in small teams, to embed raw, anonymized genetic data into a video game in which players would detect genetic faults within cancer cells during gameplay. The intent was to make the analysis fun, rewarding, and accessible to a wide range of people. The winning game is a mobile app called Genes in Space, designed by Guerilla Tea. Genes in Space is a first-person game where the player is a pilot who navigates a spaceship to collect a mysterious futuristic fuel source while being pelted with asteroids. The locations of the fuel are actually data from DNA microarrays indicating the number of copies of different genes. A normal cell should have two copies of each gene, but cancer cells can have fewer or many more. Notably, although the scientific detail behind Genes in Space is not fully explored in the game, most people who played it reported that the fact that it contributed to real scientific research was an important part of why they played. These sorts of games may be the beginning of a new trend intersecting citizen science and gaming.105
The impetus for Genes in Space, to increase the speed of analysis of data on gene expression in cancer, came in 2012 from the work of a team led by Carlos Caldas at Cancer Research UK’s Cambridge Institute. Caldas published a study in Nature that found that breast cancer is not one but ten different diseases, each with its own molecular fingerprint, and each with different weak spots for targeted treatments.
As an example, over one hundred years ago, researchers found that some breast cancers form because their cells produce too much estrogen receptor (ER) protein, and this acts on cancer growth like sunshine on a seedling. For decades, doctors have administered antiestrogen drugs like tamoxifen to combat these specific types of breast cancer cells, but this only works well when the cancer has too much ER. To personalize this treatment, breast cancer cells for a patient are tested for their level of ER protein. Progesterone receptor (PR) protein is also in some breast cancer cells. Patients with cancer characterized by PR protein are more likely to respond positively to antiestrogen drugs; patients whose cancer cells contain both PR and ER proteins (denoted PR+ and ER+ and called double-positive cancers) have the best outlook with these drug treatments. This leaves women with only one positive (either ER+ or PR+) or with neither (called double-negative cancers) with fewer options and in need of more help.
Thanks to molecular biology, in the last two decades research has accelerated and found more variation in cancer types. In the late 1990s researchers discovered that breast cancer cells produced a protein called HER2, which responded to the drug trastuzumab. In personalized medicine, women are tested for ER, PR, and HER2 and treated accordingly. Women who are triple-negative currently have fewer effective drug treatment options. The variation, and the need for personalization, does not end there.
More recently, research on breast cancer switched from measuring ER, PR, HER2, and other proteins inside of tumors to looking at which genes are toggling cancer cell growth on and off. Now, instead of categorizing cancers by the proteins present (which are made by genes), breast cancers are categorized into genetic subtypes. These include luminal A cancers, luminal B cancers, HER2-amplified cancers, and basal-like cancers. Unfortunately, while understanding these variants is helpful for understanding the disease and choosing treatments, most variants don’t currently have an effective personalized treatment. Researchers suspect there is a hidden underlying pattern. Caldas and his lab are part of the Molecular Taxonomy of Breast Cancer International Consortium (METABRIC), which aims to further differentiate between breast cancers to aid in identifying optimal treatments for all breast cancer patients.
The strategy of the METABRIC project is data intensive. From each patient, with permission, the project stores a sample of noncancer cells and a sample of tumor cells. It then records the treatment and eventual outcome of the patient associated with each sample (such as whether they became cancer free, spent years in remission, or died from the cancer). When METABRIC overlaid the gene sequences from tumor cells with sequences from healthy cells for each person, and did so repeatedly for thousands of people, they found local hot spots—small segments of genes where problems tend to arise. Each hot spot might map to certain genetic mutations specific to breast cancers. Researchers suspect it’s quite possible that a single mutation affects lots of cell processes associated with cancer. To investigate further, Cancer Research UK turned to game-style citizen science.
Genes in Space was released in February 2014 and within a month achieved what would have taken scientists six months: players collectively performed over one million analyses, examining about forty miles of DNA for these potential hot spots. As people play Genes in Space, their moves piloting a space ship are turned into information to understand the activity of different genes within cancer cells. Just as an angry person can suppress that emotion and look perfectly unfazed, so can DNA have a mutation but not express it as cancer. Mutations in much of the genome will not have a cancer-causing effect, and many healthy human cells can contain tens of thousands of mutations at any one time. Examining many different cancer cases helps to identify which mutations are actually relevant to causing cancer; this information can then be used to more accurately test patients for cancer, reliably identify different cancer types, and provide insight into possible ways to develop treatments for these different cancer types.
As one of the leading causes of death in the most economically developed nations in the world, cancer has long been a major public, political, and scientific concern, but until now research into cancer has been exclusively performed by professional scientists and doctors. These projects mark an exciting shift in the study of cancer where virtually anyone can contribute directly to developing treatments and cures that will see millions more people surviving cancer for longer.
While the majority of disease research is aimed at finding cures, a smaller percentage is aimed at prevention. The words of Catholic archbishop Dom Hélder Câmara are relevant to the philosophy of pursuing the cause of cancer instead of the cure: “When I give food to the poor, they call me a saint. When I ask why the poor have no food, they call me a communist.” So far we’ve seen the “saint” fight against cancer in the search for cures and treatments, and now we’ll see the wrongly branded “communist” searching for underlying causes to prevent cancer in the first place. This is citizen science in environmental health (as we saw in chapter 9).
All traits, even cancers, are the result of some mixture of our genetics and our environment. Genetics may bring predisposition to certain cancers; for example, based on studies of identical twins, inherited genes explain just over a quarter of breast cancer risk. Similarly, environmental exposures account for varied amounts of risk too; for example, solar radiation increases the risk of skin melanoma—according to the Skin Cancer Foundation, a person’s risk for skin melanoma doubles if the person has had five or more sunburns.
Rachel Carson’s 1962 book Silent Spring sparked a grassroots environmental movement by raising awareness about the risks of using chemical pesticides. The book led to a ban on the pesticide DDT and propelled formation of the Environmental Protection Agency. Were she alive today, Carson (who started out as a marine biologist) would likely be writing about plastic pollution in the oceans, but two years after the publication of Silent Spring, Carson died fighting breast cancer, about which she wrote, “For those in whom cancer is already a hidden or a visible presence, efforts to find cures must of course continue. But for those not yet touched by the disease and certainly for the generations as yet unborn, prevention is the imperative need.”
The Silent Spring Institute in Massachusetts is a research organization with the goal of preventing breast cancer; it pioneers research by engaging communities in searching for links between environmental contaminants and cancer. In a phone conversation, the institute’s director, Julia Brody, explains to me that its founders were influenced by AIDS activists and the type of citizen science they exemplify. They weren’t necessarily interested in collecting data to help scientific research but instead in influencing research agendas. The founders were primarily residents of Cape Cod who discovered that breast cancer rates were higher for women on the Cape. Predominant cancer organizations, then and now, have focused on the search for a cure rather than take on the issue of preventing breast cancer. Brody explains that the institute is “a new model of citizen science where an expert science team is governed by laypeople.” Expanding the idea of public scientists further, the research agendas of Brody and her colleagues are governed entirely by public interests, not the interests of corporations, or funders, or even hot topics driven by big-name researchers. “We are,” Brody emphasizes, “not just grassroots, but citizen-owned-and-operated science.” The founders wanted to balance research dollars devoted to a cure with dollars devoted to uncovering the cause.
The first step to preventing breast cancer is to find the environmental cause. The first place to look was at the high breast cancer rates on Cape Cod. With just over 200,000 year-round residents, the cape has an incidence of breast cancer that is 20 percent higher than the rest of Massachusetts, controlling for age and other factors like family history, reproductive history, use of pharmaceutical hormones, use of alcohol, and diet.
Over the last fifty years, hazardous chemicals have become ubiquitous—at work, in consumer products, in building materials, and even in our oceans and drinking water. Most chemicals have never been tested to determine what level of exposure is too dangerous. There are three classes of dangers that Brody focuses on: mutagenic chemicals (which cause mutations), endocrine disruptors (which disrupt natural hormones, such as chemicals that mimic estrogen), and developmental toxicants (exposure to which in youth increases a person’s risk of cancer in adulthood).
Of those that have been tested to be confirmed mutagens, 216 cause mammary gland tumors in rodents (none are tested in humans). Of these, about one hundred are common: seventy-three in consumer products or contaminants in food, thirty-five in air pollution, twenty-five associated with workplace conditions. Twenty-nine of these are produced in the United States and forty-seven are pharmaceuticals. For example, mutagenic chemicals include benzene, which is in gasoline; ethylene oxide, used in food processing; methylene chloride, used as an industrial solvent; and many pesticides.
Those that are endocrine disruptors include bisphenol A (BPA), which could be found in the plastic in baby bottles, sports water bottles, water supply pipes, and food storage containers;106 certain chemicals in personal care products like cosmetics and lotions, chemicals found in laundry detergents and other household cleaners; and—again—chemicals found in pesticides. After testing the urine from a representative sample of the population six years and older, the Centers for Disease Control and Prevention concluded that virtually all of us (93 percent) have BPA in our bodies. Another widespread cause of endocrine disruption are brominated flame retardants, which are commonly used on upholstery and carpeting and can find their way into human blood and drinking water.
The class of chemicals that are developmental toxicants include dioxin,107 the pesticide atrazine,108 and diethylstilbestrol (DES), a synthetic nonsteroidal form of estrogen;109 if fetuses are exposed to any of these in utero, they have increased cancer risk in adulthood.
According to Brody, our society supports industry and the economy by granting an “innocent until proven guilty” approach to chemical additives. How’s this approach working out for us? According to the National Cancer Institute (a division of the National Institutes of Health), cancer is the leading cause of death worldwide. Odds are that about 40 percent of people in the United States will be diagnosed with cancer at some point in their lifetime. The “innocent until proven guilty” mind-set, which is great for criminal justice, is counterproductive and misleading in medicine and in media reports. When reports say “there is no evidence that underarm deodorants and antiperspirants cause breast cancer,” what’s omitted from the statement is that “no evidence” could mean there has not been a proper study yet because of lack of funding or because of methodological obstacles. Brody gives this as an example of alternative wording: “The effect on breast cancer risk of using underarm products has not been investigated in a study that carefully compared women who use these products to women who do not. It is hard to study the effects of products that are widely used, because researchers cannot identify enough unexposed US women for comparison.”
Lab studies with animals show that hundreds of common chemicals can cause mammary gland tumors in rodents. The tumors arise because the chemicals cause mutations in DNA and/or act as hormone disruptors. Hormone disruptors cause tumors to proliferate and, in young rodents, cause the mammary glands to develop in a way that makes the rodents more susceptible to cancer later in life.
We know from controlled laboratory experiments that hundreds of chemicals cause cancer in rodents, and we know that people are exposed to these chemicals. Yet few studies have been able to establish cause and effect in humans. The complexity of the real world is too great an obstacle. Exposures occur over years and are rarely measured because we can’t see these chemicals. The latency from time of exposure to developing cancer can be years or even decades. People move from place to place, making it hard to track environmental exposures.
Pinpointing the causes of cancer is perhaps most straightforward with occupational hazards. In 1775, for instance, a London doctor name Percivall Pott figured out the connection between chimney sweeping and rampant scrotal cancer: our bodies turn the chemicals in soot into BPDE, a mutagen. Mary Poppins’s Cockney friend Bert and other chimney sweeps should not chim-chim-cheroo in loose shirts and baggy trousers. As a result of Pott’s discovery, chimney sweeps took to either bathing daily or wearing superhero-tight suits to keep soot off their skin.
Christopher Wild, the director of the International Agency for Research on Cancer, coined the term exposome in 2005 to refer to the sum of personal environmental exposures over a lifetime. Any trait that a person has, including diseases, are a combination of nature and nurture or, in this lingo, a product of one’s genome and exposome. Participants in Brody’s research share information not only about their health but also about where they’ve lived (and when) and details about household products. Brody and her team use that information to understand each individual’s exposome.
Does the high occurrence of breast cancer on Cape Cod indicated that the cape environment causes cancer? No. With contagious diseases like the flu, epidemiologists can track the locations of occurrences and deduce the source of the cause. Breast cancer is not contagious, and also not necessarily contracted immediately or detected immediately. It is a developmental disease, which means that causal exposure could occur decades before it occurs and is diagnosed. This time lag makes it almost impossible to track the cause. Susceptibility to breast cancer begins in the womb and other key periods of life, such as puberty and menopause, are also susceptible times. To understand why there is high breast cancer rates on Cape Cod, Brody began by reconstructing chemical exposure histories for each volunteer in the study. Her team also examined concentrations of known carcinogens like DDT that persist in the environment. Brody found that two-thirds of the homes on the cape contain DDT, and at higher levels than in other cities.
One early piece of research was the Household Exposure Study, where the Silent Spring Institute team collected air, dust, and urine samples from homes on Cape Cod to see what was present. No one had measured the occurrence of endocrine disruptors indoors at that point. The Household Exposure Study was different from mainstream research agendas because it was informed by the grassroots start of the institute. Brody describes the research as “very connected science. We go into people’s houses. We are there for an hour vacuuming for dust samples and collecting air samples. We come back later for their urine sample.” Obviously the research requires an engaged community and close partnership between scientists and participants. This type of citizen science is not simply about people helping scientists collect data but about scientists helping people solve mysteries.
The collaborative relationship between scientists and people in the Household Exposure Study led to sustained efforts that called for new perspectives in the field of research ethics. At the time, the tradition was to not report back exposures to chemicals unless those exposures were known to be clinically relevant. “But,” Brody explains, “our study was the first to measure exposure to various chemical compounds indoors, so no one knew what was typical or safe. In that situation, the traditional response was to not report.” In other words, the traditional responses was no response. In clinical trials, the ethical behavior is for scientists and human subjects of the research to interact as little as possible and for human subjects to not receive information about their own data. But with this community-engaged model that is no longer the ethical response. Brody is concerned about how to ethically translate research to the public and patients to support informed decision making even while the science remains uncertain. She and her colleagues lead the way in guiding ethical approaches to citizen science with so many unknowns and so much at stake.
The next step for the Household Exposure Study involved a collaboration with an environmental justice group in Richmond, California, called Communities for a Better Environment. Brody’s team trained local citizen science leaders there in the protocol used on Cape Cod for collecting household samples and gave them the equipment to do it. “This is another model of citizen science,” notes Brody, “where a community-based environmental justice group is trained to carry out the research.” The study was not simply repeated verbatim. When designing the study together, Communities for a Better Environment and the Silent Spring Institute expanded the list of chemicals for testing because local concerns focused on the neighboring Chevron petrochemical refinery;110 the team was thus responsive to what people wanted to know. The indoor air in homes in Richmond was more polluted than the air outside. The outdoor pollutants from the oil refinery penetrated the houses, and this added to the burden of pollutants from consumer products. Levels of PBDE in dust in California homes were much higher than in Cape Cod homes. The State of California has strict flammability standards for foam used as padding under the upholstery of sofas and armchairs, and this caused manufacturers to add far too much flame retardants to their products for sale in California. Consequently, Richmond homes have a sum total of high pollutant exposure.
The Household Exposure Study was influential. The results formed the basis for knowing that consumer products are a major source of exposure to endocrine disruptors. Companies were claiming that chemicals remain in these products and are not released into the environment, but the research in these households showed that the industry claim was false. Thanks to these findings, in January 2015 California revised its standards for foam flammability, allowing manufacturers to add lesser amounts of flame retardants.
At the end of the day, Brody and her colleagues have not found strong links of cause and effect for breast cancer in the real world. That’s because it is a near impossible thing to do: finding patterns in such a complex system is extremely difficult, like solving an algebra equation with too many variables. In 1976, President Gerald R. Ford signed into law the Toxic Substances Control Act, which was intended to protect people from chemicals that cause cancer and birth defects. When the law went into effect there were already sixty-two thousand chemicals in everyday products, and regulation is too difficult. Since then the US Environmental Protection Agency has banned only five chemicals. Even the ban on asbestos hasn’t stuck. Brody argues for a new paradigm: guilty until proven innocent. If lab studies show a strong carcinogenic effect or endocrine disruption, then that is reasonable doubt and the chemical should not be allowed in consumer products until it is proven to be safe. With developmental diseases like cancer, we should not expose people to potential problems that can take decades to come to light. In 2016 President Barack Obama signed into law the Frank R. Lautenberg Chemical Safety for the 21st Century Act. It ends the catch-22 created by the Toxic Substances Control Act and no longer requires the government to have evidence that a chemical poses a risk before it can require industry to test that chemical. Now industry has to test all chemicals before they enter the marketplace.
We’ve seen citizen scientists take charge of the research process, contribute to crowdsourcing, personalize their medicine, and establish community-owned and -operated science, all in the name of managing their own health. When people are ill, the custom is for them to passively receive information from health care providers whom they view as authorities and to seek a cure to treat their illnesses. When we buy products, we expect regulatory authorities to be looking out for our well-being and keep us safe from invisible hazards. Citizen scientists, whether empowered patients or activists, seek, evaluate, and synthesize information collaboratively with their health care providers, researchers, or community-based organizations and take charge of monitoring their health and their surrounding environment. They live well despite their illness or exposures, and investigate questions about the underlying causes.
According to Kelly Moore, a sociologist at Loyola University Chicago, citizen science can either undermine or reinforce the political authority of science. If citizen scientists are only providing unpaid work, then they are reinforcing the existing structures of the scientific enterprise. Although “unpaid work” and toeing a status quo line may sound unimpressive, this type of citizen science can result in revolutionary science: it can lead to amazing discoveries, as we’ve seen throughout the chapters in this book. But revolutionary science is different from a revolution in the structure of science. Some of the types of citizen science that we’ve seen in this chapter do change the power structures of science in ways that aid social justice. When citizen scientists are the initiators or play a large role in setting the research agenda, alongside scientists who listen and collaborate, then they are challenging power structures. The concepts of empowerment and democratization are complex in the context of scientific discovery. Gwen Ottinger, an assistant professor of science and technology studies at Drexel University, makes the case that for citizen science to fulfill its transformative potential, it has to deal with disparities in wealth, education, and power. These institutionalized imbalances play a role in environmental justice cases where there are often competing claims about knowledge and who has the expertise to produce it.
Science does not have to be an elite activity available to the small fraction of the population with graduate degrees. Science does not belong to any one group. In 2015, Effy Vayena, an ethicist, and John Tasioulas, a philosopher, laid out the case for citizen science as a fundamental human right. They interpret Article 27 of the United Nations 1948 Universal Declaration of Human Rights to mean everyone has right to actively participate in the scientific enterprise:
In addition, Article 15(1)(b) of the UN’s Report of the Special Rapporteur in the field of cultural rights underscores that “access must be to science as a whole, not only to specific scientific outcomes or applications” (emphasis added).
Vayena and Tasioulas argue that if there is a human right to science as a whole, and not just its products, the state or other agents have the obligation to promote citizen science. After all, it is widely accepted that people have rights to take an active role in politics and culture, so why not in science too? We’ve seen citizen science enable people to follow their curiosity, contribute to a meaningful endeavor, learn about science, improve their health, and strengthen community action. Now let’s see citizen science transform science into a tool for justice, which is the biggest reason to consider citizen science a human right.
We tend to hope for heroes, even superheroes to rescue us. We hope the next Albert Einstein will have the intellect, the next Mother Theresa will have the compassion. Citizen science can remind us of the collective power of people. We don’t need to wait for a hero—we need to compel ourselves to greatness. Together we make new knowledge that scientists cannot make alone. Together we leverage social capital to create just and sustainable solutions. How should we navigate our future together? Let’s conclude with a look at how we navigate our oceans.