I'm a die-hard Internet fanatic when it comes to my kid. Knowledge is power. Knowledge is frightening (Miranda, mother of an undiagnosed child presumed to have a genetic condition).
This article analyses data from a longitudinal, ethnographic study conducted in the United States to examine how 100 mothers of children with genetic disorders used the Internet to interpret, produce, and circulate genetic knowledge pertaining to their child's condition. We describe how they came to value their own experiential knowledge, helped shift the boundaries of what counts as authoritative knowledge, and assumed the role of genetic citizen, fighting for specific rights while shouldering and contesting concomitant duties and obligations. This exploration of e-health use contributes to our understanding of the social practices and power relations that cut across online and off-line worlds to co-produce genetic knowledge and genetic citizenship in multiple contexts.
The supply of and demand for online health resources (i.e. cybermedicine or e-health) have skyrocketed over the last decade, a fact well documented in academic texts and popular media alike (Baker et al. 2003, Christian et al. 2001, Cotten and Gupta 2004, Davis and Miller 1999, Fox 2006, Gerber and Eiser 2001). While estimates of the prevalence of e-health use in the US vary widely (e.g. from 20 per cent of the adult population to 80 per cent of US Internet users, or some 113 million adults (Baker et al. 2003; Fox 2006)), even conservative calculations indicate that the Internet has become an important source of healthcare information. This is particularly true for women, the primary users of e-health resources (Fox 2006, Pandey et al. 2003).
With its quick search capabilities and access to countless pages of information on diseases, symptoms, and treatments, the Internet has become an increasingly influential component of Western medicine. Numerous studies have demonstrated the effects of e-health use for individuals, including improved health information and services (Fox 2006), enhanced comprehension of healthcare issues (Baker et al. 2003), a greater sense of control and increased confidence in healthcare decisions (Broom 2005, Nettleton et al. 2004), and access to support and advocacy groups (Petersen 2003, Rapp and Ginsberg 2001). Internet use has also been found to enhance patient-doctor relationships by providing a common vocabulary, aligning expectations, and increasing patients’ confidence in doctors’ conclusions and advice (Baker et al. 2003, Fox 2006, Gerber and Eiser 2001, Hardey 1999, 2000, Potts and Wyatt 2002, Solovitch 2001).
By providing its users with scientific literacy, validation of personal experience, and social support and advocacy networks, the Internet aids individuals in becoming proactive partners with the medical establishment (Hardey 1999, 2000, Nettleton et al. 2004, Rajendran 2001, Saukko 2004). Users not only gain knowledge, but become co-producers of that knowledge and gain a sense of their own personal agency. As Hardey has shown, the interweaving of personal experiences; lay and scientific knowledges; and advice on personal home pages, listservs, and other online resources represents ‘a shared production and exploration of solutions, support, remedies, and lifestyles that has not previously been possible’ (2000:2). Studies have demonstrated how patients and caregivers use online resources associated with support and advocacy groups to develop alternative representations of the genetic disorders that affect their families. In doing so, e-health users challenge biomedical discourses that favour certain genetic ‘norms’ and dominant notions about the perfectibility of individuals and families (Huws et al. 2001, Rapp and Ginsburg 2001). In some cases, they may even become influential advocates for specific research, treatment, and public education campaigns (Hardey 1999, Rapp and Ginsburg 2001, Solovitch 2001).
Hardey (1999) has claimed that the construction of Internet users as information managers and producers symbolises a new form of patient and caregiver empowerment (or, in some cases, liberation from strictly biomedical discourses), but others argue that it also represents ‘a conscription into an obligatory geneticized identity’ that locates affected families within new communities of obligation and identification (Rapp 2003:148). From this perspective, the capacity to obtain genetic information; make informed decisions; advocate for new rights, treatments, and services; and challenge stigmatisation and exclusionary biopolitics becomes an obligation to do each of these things (Rose 2001). Novas and Rose (2000) concluded that e-health use produces a form of ‘digital bio-citizenship’ or genetic subjectivity in which individuals become deeply invested in becoming active, knowledgeable, and responsible about living a life with risky genes, at both individual and group levels. In their co-productions of knowledge, in blurring the lines between expert and lay opinion, and in their coalitions with genetic researchers, those affected by genetic disorders have become ‘genetic citizens’, consumer activists working with and against healthcare providers, systems, and the state (Heath, Rapp, and Taussig 2004, Novas and Rose 2000).
While scholars have theorised genetic identities, citizenship, and subjectivities as possible outcomes of the intersection of genomics and cyberspace, there are still relatively few empirical studies of these processes and their implications for those whose subjectivities and productions are in question. Moreover, with several noteworthy exceptions (e.g. Heath et al. 2004, Taussig et al. 2003), much of the theoretical work and empirical research on the social implications of e-health use comes from the UK. This article combines the theoretical focus on individuals’ productions of genetic knowledge with an empirical study of one group for whom the Internet and genetic knowledge are significant: parents of children with known or suspected genetic disorders. Drawing on longitudinal ethnographic research conducted in the United States, we examine how parents (primarily mothers) use the Internet to interpret, produce, and circulate genetic knowledge pertaining to their child's condition; come to value their own experiential knowledge; and help shift the boundaries of what counts as authoritative knowledge. We also examine the drawbacks of e-health use for these parents. This exploration of e-health use contributes to our understanding of the social practices and power relations that cut across online and off-line worlds to co-produce genetic knowledge and genetic citizenship in multiple contexts.
The overall aim of the ethnographic study was to examine how parents who had a child or who were at risk for having a child with a genetic disorder sought out, understood, and used information (including information received during genetic counselling and evaluation sessions) to interpret genetic disorders and to make decisions about reproduction, healthcare, and services. Families were recruited from those referred by their healthcare providers or developmental evaluation centres to a pediatric genetic clinic located in a university-based hospital in the southeastern United States. This clinic provides medical genetic counselling and evaluation services for the state's citizens and their physicians by evaluating and diagnosing genetic and metabolic disorders in children and adults, counselling these clients and their families, and, when appropriate, providing long-term medical management and follow-up care.
After the study was approved by the university medical school's Institutional Review Board, a genetic counsellor associated with the clinic sent information about the research project to referred families. Those interested in the study contacted the third author (the principal investigator) directly. Ethnographers on the research team provided a full description of the research project and obtained informed consent from participants before the first clinic visit. We invited mothers, fathers, and other interested family members to participate in interviews, but it was primarily the biological mother who did so. This was due, in part, to the fact that mothers tended to be the primary caregivers, healthcare managers, and e-health users in their families.
Of the 106 families recruited, we report here on the 100 who provided information about their Internet use. These 100 families were representative of the pediatric genetic clinic population in terms of age of child, income, and ethnic diversity. Mothers identified themselves as being African American (20), Latino (11), Native American (7), and White (62). Families were from a range of income and education levels. Forty-five per cent had annual incomes of less than $30,000, while 26 per cent had incomes of $60,000 or more. Eleven per cent of the mothers had less than a high school education, 21 per cent had a high school diploma or equivalency, 33 per cent had some college or an associate's degree, 24 per cent had a bachelor's degree, and 11 per cent had advanced degrees. Children referred to the clinic ranged in age from one month to 18 years, but two-thirds were five years of age or younger. Of the 100 families, 61 received, or had confirmed, a definitive genetic diagnosis through genetic testing or a clinical exam, while 39 did not get a clear diagnosis.
The longitudinal ethnographic study, conducted from September 2000 to March 2004, began with the family's first visit to the clinic. Ethnographers observed and wrote extensive field notes on the communications and interactions of family members and clinicians during the evaluation and counselling session (or sessions if a family returned). They followed this initial observation with four semi-structured interviews evenly spaced over the course of two years. Interviews were approximately 90 minutes in duration and were typically conducted in the home or other place of the family's choosing. Interview questions covered a range of topics, including parents’ perspectives on and evaluation of the clinic visit and any testing procedures; where they searched for information, services, and supports in relation to the child's condition; their understandings of the condition and its ramifications; family routines and accommodations; and decisions made related to health, reproduction and services. Audio recordings of the interviews were transcribed verbatim and translated from Spanish into English when necessary.
In a preliminary analysis of the interview data, the Internet emerged as a major resource in parents’ quests for diagnosis, prognosis, treatments, services, and supports. We also found that it had ramifications for parents that went beyond accessing information. The three authors then returned to the data for a closer, more systematic examination of the roles that the Internet played in parents’ search for and co-productions of genetic knowledge. All data related to parents’ use of the Internet and outcomes of this use were coded and collated using QSR N6, a software programme designed to aid the analysis of textual data. The authors independently read the collated material and developed matrices to summarise how parents used the Internet and the implications of this use (Miles and Huberman 1994). As we developed the storylines of parents’ activities, we tested our interpretations against each case, and modified our interpretations in line with the constant comparative method (Goetz and LeCompte 1981, Patton 2002) and negative case analysis (Denzin 1989).
We use pseudonyms to identify the eight mothers whose experiences we describe here. The quotes and stories of these mothers (Miranda, Wendy, Sarah, Jacqueline, Heather, Susan, Gretchen, and Anita), taken together, were representative of the full range of experiences and opinions of the e-health users analysed for this study.
Parents’ Internet use
Most families (83%) reported using the Internet to search for information about their child's condition or to locate services or support. Of these users, 83 per cent reported going online themselves, and the other 17 per cent used the e-health resources that family, friends, co-workers, doctors and other service providers obtained for them. While families of all ethnic groups used the Internet, the prevalence was lower among African American (65%) and Latino (55%) families as compared to Native American (86%) and White (94%) families. These ethnic disparities were probably confounded with income and education levels. Families with lower incomes and less education, regardless of ethnicity, were less likely ever to have used the Internet. Even so, 69 per cent of families with household incomes below $30,000 used the Internet, and two-thirds of the mothers with a high-school education or less were e-health users (see Table 1). In most cases, mothers were the primary Internet users, and their use was most intense at several critical points: when attempting to ‘get the ball rolling’ toward a definitive diagnosis, when interpreting diagnoses and prognoses, and when making decisions about appropriate medical treatments, therapies or other services.
|Socio-demographic group||Percentage of group that used e-health resources|
|African American (n = 20)||65|
|Latino (n = 11)||55|
|Native American (n = 7)||86|
|White (n = 62)||94|
|Annual income in USD|
|0-29,999 (n = 45)||69|
|30-59,999 (n = 29)||90|
|60-89,999 (n = 10)||100|
|90,000 and up (n = 16)||100|
|High school or less (n = 32)||69|
|Some college (n = 20)||90|
|Associate's Degree (n = 13)||69|
|Bachelor's Degree (n = 24)||96|
|Advanced Degree (n = 11)||100|
Getting the ball rolling toward a definitive diagnosis
Diagnosing a child's condition was rarely as straightforward as most parents hoped it would be. By the time they were referred to the pediatric genetic clinic, families had often been to a host of other medical specialists in an attempt to find the cause of their child's problems. Parents were often taken aback by the uncertainties of the diagnostic process that ranged from contested categories (e.g. attention deficit disorder – ADD) to more recognised disorders that currently lack definitive genetic tests (e.g. neurofibromatosis 1). As parents faced these uncertainties, they turned to the Internet to learn more about possible diagnoses and diagnostic procedures. Some went online to get second opinions about diagnoses that they suspected were incorrect or to find information they thought would convince their doctors of the need for further referrals. Others searched the Internet to find tools they could use independently to diagnose their child's condition. These ‘dot-com diagnosticians’ often sought to re-appropriate authority over their child's medical care, which they felt had suffered as a result of medical experts’ inability to provide a satisfactory diagnosis.
While the majority of parents waited to go online until they had obtained a potential or confirmed diagnosis that they could plug into search engines, some began their Internet search before this. They plugged in their child's symptoms in an attempt to match them with a specific disorder or to identify medical specialists who could possibly make a diagnosis. Miranda explained the process she undertook to discover a diagnosis that would explain her daughter's small size, delayed development, and seizures. In addition to consulting online medical dictionaries and journals, she explored personal websites and other sources of case history information (e.g. chatrooms, listservs, newsletters) produced by parents of children with a confirmed diagnosis who had symptoms similar to those of her daughter. Miranda cross-referenced these data sources and compared her child with those described online. At times, she felt traumatised as she discovered similarities between her daughter and children with severe, sometimes fatal, genetic conditions. When she found information that seemed relevant, she took it to her child's doctors, who either referred her daughter for a particular genetic test or explained why this information was not relevant to her daughter's condition.
Other mothers considered themselves their child's primary diagnostician and viewed the Internet as their research base. Wendy described her labour-intensive role in diagnosing her son with Asperger syndrome, a condition often referred to as high functioning autism. She began:
Who diagnosed William? Well, if you really look at it, you know, I did. I went on the Internet . . . I pulled the DSM (referring to the Diagnostic and Statistical Manual of Mental Disorders) off the Internet . . . I'm the best one to know what William is like every day. But I really had to get a doctor to look at it and confirm [it].
After nine years of consulting medical, developmental, and educational specialists and having her son undergo a variety of inconclusive or inaccurate diagnostic tests, Wendy began searching online for a diagnosis. Based on this research and her intimate knowledge of her son's health and behaviour, Wendy dismissed several diagnoses before settling on autism. While several experts had previously ruled out a diagnosis of autism based on their clinical observations, Wendy argued that her son's behaviour at the clinic was not typical of his everyday behaviour and, thus, precluded an accurate diagnosis. She returned to the Internet to identify and contact developmental specialists who would provide in-home assessments. These specialists confirmed that William had Asperger syndrome.
Sarah decided not to keep her appointment at the genetic clinic and instead turned to the Internet to find a diagnosis for her eight-year-old daughter's behavioural and learning problems. When asked why she declined to go to a genetic specialist, Sarah said that she had ‘gotten kind of used to the fact that I'm really not going to get too much help’. Previously, one doctor had told her that nothing was wrong with her child, and another had diagnosed her daughter with ADD and put her on medication. Dissatisfied with both assessments, Sarah went online, and ‘sort of decided on my own that she sounded like fragile X [syndrome]. And so I thought I am not going to drive all that way [to the clinic] to have somebody go, “Yadda, yadda, yadda. We’ll test her for fragile X”, when I could just order the test myself through my doctor’. While most parents who searched for a genetic diagnosis online relied on medical geneticists to verify or rule it out, others like Sarah trusted their own ability to use information from the Internet to find an answer for their child.
Moving from diagnosis to prognosis
After obtaining a diagnosis, mothers began searching for prognostic information. For some, the Internet was one of many sources they used to understand what the disorder meant for them and their child; for others, it was the sole source of information. Most mothers reported being unsettled by what they had found. For any specific disorder, they were confronted with a broad range of potential symptoms that varied in severity and time of onset. When mothers were confused or disheartened by the lack of a conclusive trajectory for the disorder, they frequently turned from ‘official’ medical/genetic websites to personal web pages, listservs, and chatrooms hosted by parent support groups. By reviewing the case histories posted for children who shared their child's condition, they hoped to learn what they could expect and to determine whether their child was a ‘typical’ or ‘milder’ case. They were also interested in learning about the strategies other parents used to foster their children's health and development and overcome everyday challenges (e.g. managing problem behaviours, keeping dentures in a three-year-old boy).
Jacqueline, a mother of a child with a rare genetic disorder caused by a chromosome 18p deletion, explained that the Internet had become her primary source of information ever since she first went online to learn about the genetic tests her daughter was to undergo. After receiving the diagnosis, Jacqueline returned to the Internet for ‘more information on her condition: how will she develop, what consequences the future will bring, if she will be independent’. She explained, ‘I was just very unsettled over her condition. I wanted to know what is to become of her’. She said that, while often overwhelming, the Internet provided some peace of mind: ‘Reading about it and hearing responses from other parents, I can see that her case isn't so severe at this time, thank the Lord’. She also talked about the Internet's potential to provide parents with social support as they struggled to make sense of the diagnosis and prognosis:
I would like [to find] people with experience specifically with my daughter's condition. This way we can compare progress; severity; how parents have dealt with, struggled with, and finally accepted the problem; what advice they might have for me that may help me emotionally and mentally. So, that would be the last step and that's what I'm working on, now, on the website, trying to get in touch with people.
For parents like Jacqueline, the Internet provided hope and a way to connect with other families who could understand the challenges they faced, share information and experiences, and provide critical emotional and mental support.
Making decisions about treatment options and monitoring outcomes
For e-health users, online communities proved crucial to their decisions about services and treatments. Mothers were eager to share with the interviewers their overflowing boxes and binders of Internet printouts and other resources they had acquired during their extensive on- and off-line information searches. While not all mothers were accomplished information managers, most felt it was important to ‘stay on top of things’, and believed it was necessary to continue searching for information that could guide their decisions. Some mothers told us that they had become compulsive Internet users, fuelled by the belief that if they only looked long enough, they might find the missing link that would enable them to help their children reach their full potential. Gretchen, the mother of a child with a chromosome 22q11.2 deletion, stated, ‘You have to do your own research. You can't always leave it to your doctors’.
Mothers reported that the best information they received on treatment options often came from other parents who had conducted extensive research, consulted numerous experts, made the tough decisions, and then monitored their child's outcomes. This advice was viewed as reliable because it was based on extensive biomedical research and real-life experiences. Mothers especially valued other parents’ advice on conditions like autism, for which different types of treatments are highly contested and debated. Mothers of children with Prader-Willi Syndrome (PWS, a genetic disorder associated with a number of physical and mental characteristics, most notably a feeling of hunger that can lead to life-threatening obesity) credited the online PWS parent support group with their decision to push for experimental treatments and alternative therapies that they believed would improve their child's chances of leading what they called a ‘normal life’. Heather, a mother of an infant boy with PWS, typified their experiences. At a national conference Heather learned about several promising treatments that were being used with infants. She discussed these treatments with a pediatric medical geneticist, who told her that starting the treatments during infancy was a highly experimental practice. Instead, he encouraged her to participate in a clinical study if she was intent on pursuing these treatments. Heather went online to learn more about the treatments and entered into lengthy conversations in chatrooms with mothers who strongly advocated that her son begin them as soon as possible. Convinced by the evidence marshalled by these mothers, Heather returned to the geneticist and argued her case for starting the treatments immediately. The geneticist referred her to an endocrinologist, who helped her to obtain them. Heather then returned to the Internet on a regular basis to compare her son's progress with that of other infants who received the treatments and to gather additional advice regarding dosage levels and other complementary therapies.
Implications of Internet use
The Internet helped shape how mothers understood and co-produced medical and genetic knowledge. As mothers engaged in the activities described above, they gained traditional forms of scientific literacy (i.e. knowledge of biomedical concepts and terminology), challenged and revised authoritative knowledge, and sometimes became activists or ‘genetic citizens’ who made alliances with researchers and others who could support their cause. They also struggled with their identities and roles as information managers and parent advocates.
Gaining traditional forms of scientific literacy
In interviews, mothers established a link between using the Internet, becoming knowledgeable, and being an advocate for their child. The dictum, ‘knowledge is power’, was used repeatedly when they talked about reasons for and consequences of accessing e-health resources. Most mothers believed it was their responsibility to become well informed, and an important part of this process was developing the scientific literacy required to access, understand, evaluate, and communicate scientific and medical vocabulary and concepts. They noted that the ability to comprehend and use biomedical terms was required both to make sense of the medical information obtained and to ensure that healthcare providers took them seriously. They explained that the power dynamics inherent in doctor-parent relationships made this form of scientific literacy a necessity for parents who were committed to playing an active role in their children's healthcare. Mothers often used battle-oriented terminology (e.g.‘armed with my research’, ‘have to be aggressive’, ‘you have to fight’) to describe the process of preparing for clinical encounters. Miranda spoke at length about the difference made by using scientific terms. She explained, ‘If you talk to doctors as if you have just an ounce of education, they’re gonna talk to you like you have an ounce of education, and they’re not gonna BS you’. She elaborated:
When I talk to doctors I sound totally different than how I talk everyday. I don't want them to think I'm some country bumpkin that doesn't know my thumb from my elbow. I mean, I've done a lot of research and I want them to know it. I don't want them to repeat the same information to me that I already know.
When Miranda first told her pediatrician of her concerns about her daughter's development and mini-seizures, she was accused of overreacting and told to be patient. She then began conducting online research, plugging in her child's symptoms and learning some of the terms and concepts associated with developmental delays and related health issues. This enabled her to provide evidence (in scientific terms) that her concerns were valid and to obtain referrals to medical specialists. Based on her experiences, Miranda advised other parents to educate themselves and ‘act like you know’ when faced with an overwhelming amount of complicated information. She argued that if parents just keep nodding as though they understand what the doctors are saying, writing everything down and pushing for more, they will get the most comprehensive information. Then, she concluded, they can go home, plug it all into the Internet, and figure out what it means.
Susan, mother of a daughter with physical, developmental, and behavioural problems, likewise turned to the Internet to identify genetic tests that might provide a diagnosis. She explained that doctors had routinely ‘neglected’ her child, providing vague labels such as Pervasive Developmental Disorder, which failed to capture the full range of her child's symptoms. She felt that these doctors failed to take her concerns seriously because she was on Medicaid. Susan's daughter was eventually diagnosed with mosaic trisomy 13, a rare genetic syndrome characterised by multiple abnormalities, including severe mental retardation, congenital heart defects, and hearing and vision problems. Susan returned to the Internet and found websites based in the United States, Australia, and England that provided case studies of children affected by trisomy disorders, which she used to piece together a prognosis for her daughter. She also found the website of a law firm specialising in special education and disability rights and an online family support group, both of which she found useful in advocating for specific services and for exploring the possibility of a lawsuit against the medical professionals who had failed to diagnosis her child's condition since birth. She said that she did not consider these specialists to be ‘professional’, because they failed to pursue genetic testing. She concluded, ‘A lot of people may look at the Internet as maybe entertainment or a luxury item, but I look at the Internet as a tool because it has very well been a tool’.
The production of authoritative genetic knowledge
The e-health users in this study played, to varying degrees and in different ways, an active role in the production and dissemination of authoritative genetic knowledge. They sought out biomedical knowledge that they interpreted through the lens of their own child's experiences, and in so doing, made numerous decisions about what aspects of biomedical information were relevant. They constructed a picture of the genetic disorder, its prognosis, and its treatment that made sense to them and, in turn, shared it with parents of children with similar conditions. Several mothers also spearheaded fundraising and advocacy efforts to support research on specific disorders, change public policies that affect research and treatment practices, and raise public awareness about new and rare disorders. Jacqueline, for example, sought to assist the Chromosome 18 Registry and Research Society in its efforts to increase funding and raise awareness about disorders related to chromosome 18. She explained that both parents and doctors should know about the condition so they can identify the need for testing as soon as symptoms appear.
Mothers also came to value and even give credit to ‘lay’ knowledge and sought to shift the boundaries of what was considered ‘authoritative’ knowledge (or what counted as scientific literacy) to include this experiential knowledge. When asked what her experience of caring for her son with PWS might have been like if she had not had access to the Internet, Heather stated:
Oh, my gosh! I cannot even [imagine]! . . . I think I'd be taking what the doctors said more at face value . . . I don't think my son would have the advantage of me being able to like sound assertive or aggressive, of going in armed with information because . . . I wouldn't know. I don't know that he would have growth hormones because the counsellor [didn't present it as an option]. And then when I found out that's just not acceptable and I had all these other people saying, ‘No, no, no’. That gave me more confidence to not think I was so far out there. I mean, it could make a major difference in his medical care.
Several mothers discussed their growing scepticism about the process through which knowledge becomes authoritative. The mothers of children with PWS, for example, pointed out that most standard treatments were at one point experimental and became widely accepted only after extensive research. These mothers argued that inconclusive but promising research, along with persuasive parent testimony, is authoritative enough for them. When the cost of participating in the clinical trial of a desired treatment seemed too high (e.g. payment would not be covered by insurance, travelling to another state, or taking time off from work), they demanded that their doctors provide the treatment outside the trial and encouraged other parents to make such demands. Anita, the mother of a child with a rare immune deficiency disorder, discussed her frustration that promising research on a potential treatment has not been published in a peer-reviewed journal because, according to her online conversation with the physician responsible for that research, it involved too few cases to be considered conclusive. She shook her head as she explained that because it had not been published in such a journal, she had not been able to convince her child's healthcare providers to ‘take it seriously’. She wondered aloud about the ramifications of such scientific standards on the quality of care for children with conditions that are too rare to provide sample sizes large enough to provide data for evidence-based practice.
The challenges and drawbacks of being an information manager and parent advocate
These activities were not without costs. Moving beyond accepted biomedical practices was seldom easy for mothers who wanted proven, scientific answers that not only meshed with their own experiences but also provided a clear path toward treatment, services, and a positive prognosis. Mothers often expressed conflicting emotions about their role as advocates and about the decisions that they had to make on a daily basis. While proud of their efforts to help their children, they often felt the need to rationalise what they feared others might view as unwarranted or ‘crazy’ actions. In describing their work at identifying and pushing for treatment and services, mothers often produced detailed ‘heroine narratives’ about other mothers who conducted extensive research and overcame great obstacles to obtain the best possible care for their children. These ‘heroines’ advocated controversial treatments that challenged authoritative knowledge and mainstream biomedical practices and, ultimately, proved that these treatments were effective. Sarah, for example, referred to the film, ‘Lorenzo's Oil’, in which, she explained, a mother ‘pounded the Internet’ to extract the evidence she needed to convince doctors to produce a new medicine for her child. Mothers often used these narratives to demonstrate that they themselves were not ‘crazy’, ‘way out there’, or ‘all alone’ in their efforts to push the boundaries of accepted practices and that others had gone further, with striking success.
Mothers were also sceptical about the credibility of some online resources and concerned about their own capacity to interpret and evaluate them, and they also worried that they would miss some crucial bit of information that could make a difference for their child. They explained that it was exhausting and often nerve-wracking to take care of their child all day and then search the Internet at night, hoping to find answers that might be one website away. As other studies have shown, e-health users who found numerous resources sometimes experienced anxiety-producing information overload as they attempted to determine their relevance to their child's case, while those who found few resources often questioned their own capacity to conduct the searches or became disheartened or indignant about the lack of research and information available relevant to their child's condition (Chrysanthou 2002, Fox 2006, Hardey 1999, Novas and Rose 2000, Solovitch 2001, Taylor et al. 2001, Ziebland 2004). As Gretchen stated, ‘It's a fine line you walk between making yourself the victim of too much information and [being] well-informed’.
As a result of this tension, most e-health users hoped to find a well-informed, open-minded, and communicative medical expert who would take the lead in managing their child's healthcare, relieving them of the often overwhelming burden of information management and decision-making. Miranda, for example, believed that she needed to find ‘the right doctor’, one who would take seriously her concerns and opinions, stay abreast of the research, consider a wide variety of traditional and nontraditional treatment options, and serve as the final arbiter of authoritative knowledge, even though experience had taught her that ‘doctors are only human, and they don't know all the answers’. Thus, mothers’ battle-oriented assertions about the need to do their own research and fight on behalf of their child often coexisted with statements about the desire to find ‘that one person’, an open-minded ally who would ‘know what to do’ or take the lead in figuring it out.
Discussion: creating genetic knowledge and citizenship via the Internet
In this study, mothers of children with known or suspected genetic conditions used the Internet to gain direct access to genetic databases, scientific research on the human genome and genetic disorders, personal narratives and photo albums of individuals with named genetic disorders, diagnostic tools, online and off-line social networks formed around specific genetic conditions, and other resources related to medical information (see also Solovitch 2001). For some, the Internet merely provided one set of resources, albeit powerful ones, that they could use to clarify and supplement what they learned from their doctors. For others, the Internet opened up a new world of investigation and advocacy that they had not previously considered possible: they marshalled online research to question diagnoses, prognoses, and treatments. Some mothers also used their online research to advocate for further research on experimental treatments, change research policies and practices, and raise public awareness about rare conditions on a national level.
We found that as mothers engaged in these activities, they often adopted (or co-created) the role of genetic citizen, participating in or helping establish communities organised around specific genetic conditions. Rose and Novas (2005) have described these activities as ‘digital bio-citizenship’, which entails working online to produce scientific knowledge, negotiate claims to expertise, form and contest identities attached to specific conditions, collaborate with researchers, and demand recognition and resources.
As with all forms of citizenship, participants claim and struggle over associated (or desired) rights and obligations. For the e-health users in this study, the Internet created or reinforced their sense of entitlement to certain ‘rights’– particularly when other members of their online communities were able to obtain information or services that they had not yet achieved. Mothers claimed, for example, the right to a timely and accurate diagnosis; the right to choose from all existing standard and experimental treatment options; and the right to complete, up-to-date information on all aspects of their child's condition. Mothers often turned to the Internet, in part, because they felt entitled to these rights and believed the Internet would help them obtain these rights. Their online interactions with other parents and specialists often reinforced their sense of entitlement and introduced them to other rights they had not previously considered. Heather, for example, turned to the Internet to learn about an experimental treatment that she felt might be useful for her son. Once online, she became convinced not only that this treatment was right for her son, but also that he was entitled to receive it without being enrolled in a clinical trial. As she communicates her success in obtaining this treatment to online communities formed around Prader-Willi syndrome, she will, in turn, affect members of those communities who may share this knowledge with other families and medical specialists in both on- and off-line settings. Sharing lessons learned with online communities was, for many mothers, one of the duties or obligations entailed in genetic citizenship, particularly for those who had benefited from their participation in those communities. Thus, the Internet enabled (even obliged) some mothers to create and negotiate specific forms of genetic citizenship.
This study demonstrates that online genetic communities have become increasingly important resources for families of children with genetic disorders. As their significance increases, concerns about other aspects of citizenship – inclusion, exclusion, and equity in representation/power within these communities – also increase. Although mothers of all ethnicities were engaged in the online activities described above, we found some evidence of differential access to the Internet. In line with other studies, individuals who had lower incomes and were less educated were less likely to use the Internet (Lenhart et al. 2003, US Department of Commerce 1999, 2000) or e-health resources (Cotten and Gupta 2004, Fox 2006). These discrepancies currently preclude universal e-health use (Devine 2001). They also point to a need for further research on foundational questions such as who gets to be a citizen and at what point are rights granted.
Moreover, we found that it is largely women who bear the burden of managing health information and creating these new forms of genetic citizenship. This finding supports the work of other researchers who have demonstrated that the management of family healthcare, including the use of e-health resources, is a gendered activity, with women bearing the bulk of the responsibility as part of their traditional role as primary caregivers (see, for example, Nettleton et al. 2004, Rapp and Ginsburg 2001, Saukko 2004). Thus, while mothers claimed new rights, they also bore the bulk of the obligations and anxieties of digital bio-citizenship – the compulsion to keep searching and marshalling evidence to find the best care for their child, information overload, and related uncertainties. Such findings raise questions about the gendered power dynamics in encounters between digital bio-citizens and medical specialists, both on the Internet and in the clinic, as well as questions about how e-health use is affecting these power dynamics.
As mothers conducted their online research, some became self-reflexive participants in the social production of scientific knowledge. These women engaged in a process that Latour (1987) referred to as opening the black boxes of scientific facts to reveal the sociohistorical processes behind their production. By using and advocating for online diagnostic resources and experimental treatments, mothers like Anita and Heather became active participants in the networks through which science, however incomplete, becomes the impetus for everyday action. They thereby helped to dislodge medical geneticists from their role as obligatory points of passage for those seeking genetic answers. By going online to find or share information, they have helped shape both the significance of genetic diagnoses and what counts as authoritative knowledge for families around the world (Solovitch 2001). Moreover, as they use their online resources to advocate for research, technologies, and treatments that would help their children, these women have a direct impact on how genetic knowledge is translated into clinical practice, changing the roles that parents and doctors play in the translation process (Skinner and Schaffer 2006).
Conclusion: genetic knowledge and agency beyond the lab and the clinic
This study contributes to a growing body of literature on the social production and transfer of genetic knowledge and its relationship to identity formation and citizenship. Anthropologists such as Lock (2005), and Rapp, Heath, and Taussig (2001) have provided insight into the dynamic relationships that exist between genetic discourses and research scientists and clinicians, lay support groups, and more general populations in the United States. Taussig and colleagues (2003) explain that the genetic worldview is constituted dialectically:
[O]n the one hand, an ever increasing number of actors and practices are conscripted into a world defined genetically, in which reductive determinism looms large. On the other hand, democratic possibilities open up as genetic discourses and practices come to occupy multiple locations and to conscript a wider range of actors. Some of those actors may use their new and multiple locations to contest a too-easy determinism or to develop interventions – molecular or otherwise – that they consider choice-enhancing. They may well be viewed as a vanguard in the politics of biosociality, a vanguard from which the rest of us have much to learn (2003:62).
In this study, we demonstrate that mothers who participate in online health communities to find and share knowledge about their children's genetic conditions form one such vanguard. Their activities provide a wealth of information on how genetic knowledge is located, interpreted, produced, and shared in both on- and off-line contexts outside the research laboratory and the clinic. This study also provides insights into the ways in which the rights and obligations of genetic citizenship are negotiated by affected families. We demonstrate that genetic citizenship itself is socially produced by e-health users as they claim, create, and contest specific rights and obligations. While mothers demonstrated multiple forms of biosociality (e.g. strongly identifying with on- and off-line communities formed around specific genetic conditions), some simultaneously resisted certain activities or subject positions that were presented to them as ‘duties’ or ‘ethical responsibilities’ of genetic citizenship. By demanding experimental treatments outside clinical trials, for example, mothers renegotiated what it meant to be a ‘responsible’ family affected by Prader-Willi syndrome. That is, instead of promoting the common good by participating in research, these mothers pursued treatment on their own terms and then shared treatment outcomes directly with their on- and off-line communities. Thus, mothers and other e-health users are not simply consumers of biomedical knowledge; rather, they are creative agents who produce not only specific forms of biomedical knowledge but also specific forms of genetic citizenship and related ethics. To understand the significance of these efforts, researchers must move beyond the laboratory and the clinic to focus on the myriad domains in which mothers, parent advocates, and others engage with and participate in science on a daily basis.
The Culture and Family Interpretations of Genetic Disorder Project was funded by a grant (R01 HG02164) from the Ethical, Legal, and Social Implications (ELSI) Research Program of the National Human Genome Research Institute.