Genes in the Media

This chapter is about the public image of genes. But what exactly do we mean by “public”? Here, I use the word as a noun or an adjective vaguely, in order to refer to all ordinary people who are not experts in genetics. I thus contrast them with scientists who are experts in genetics – that is, who have mastered genetics-related knowledge and skills, who practice these as their main occupation, and who have valid genetics-related credentials, confirmed experience, and affirmation by their peers. I must note that both “experts” and “the public” are complex categories that depend on the context and that change over time. There is no single group of nonexperts that we can define as “the” public, as people around the world differ in their perceptions of science, depending on their cultural contexts. We had therefore better refer to “publics.” The differences among experts nowadays might be less significant than those among nonexperts, given today’s global scientific communities, but they do exist. Finally, both the categories of experts and publics have changed across time, depending, on the one hand, on the level of experts’ knowledge and understanding of the natural world, and, on the other hand, on publics’ attitudes toward that knowledge and understanding.

This bring us to another important question: What is the relation between experts and publics? A long-held view is the so-called deficit model. According to this, scientific knowledge and understanding are transmitted by the enlightened experts to the ignorant publics, in an attempt by the former to educate the latter. This is a view in which experts always have superior status compared to publics. However, this is far from accurate. Both the way science itself is conducted and the way its findings are communicated have never been completely separated from their social contexts. In general, one might argue that science and society do not simply interact, but are co-constructed; science is done within society and cannot be demarcated from it. Therefore, the communication of the conclusions of scientists to the various publics is not a linear process of transmission. Rather, it is a process of constant interaction and negotiation.

In her detailed account of the popular images of genetics throughout the twentieth century, media scholar José van Dijck has shown that there has never been a clear separation between science and its images, in the same sense that there have never been clearly separated scientific and commercial or public and private domains. Thus, she argued that the mediation of science has not been the outcome of interactions between demarcated communities: the scientists who command knowledge and the journalists who command its public representation. Rather, the mediation of science has been the outcome of interactions “between various professional groups, who are not merely facilitators or manipulators of expert knowledge, but who are themselves active participants in a public definition of science.” Images of science are never mere illustrations of scientists’ practices, nor are imaginations mere reflections of people’s anxieties about these practices. Rather, images and imaginations are rhetorical tools in the construction of a public meaning, which are intricately connected. Van Dijck described the outcome of this connection as “imagenation,” noting that “Rather than a linear diffusion of knowledge, ‘imagenation’ assumes a recursive circular transformation of knowledge.” This circularity describes the “multi-layered dissemination of genetic knowledge.” As media and film scholar Kate O’Riordan has nicely put it, “It might be helpful to take media audiences as publics orientated towards mediated technoscience, rather than seeing audiences as orientated towards the technoscience of genomics through media.” In short, knowledge about genes and genomes is not simply diffused from expert-producers toward the nonexpert-consumers through the media. Rather, the media actively participate in the public representation of this knowledge. With this in mind, let us now look at how genes have been represented in the media.

If you look at media headlines, you will find several accounts of how genes affect various aspects of our lives. The general message conveyed in many cases is that there exist “genes for” characteristics. That genes affect biological characteristics – such as the color of our hair, eyes, or skin – is not news, of course. What is news, and what often features in headlines, is that genes also affect behaviors or life outcomes. For instance, an article on the CNN website titled “The star gene: next generation celebrity” includes photos of famous parents and children such as Kirk Douglas and his son Michael Douglas, Judy Garland and her daughter Liza Minelli, Henry Fonda and his children Peter and Jane Fonda, Martin Sheen and his sons Emilio Estevez and Charlie Sheen, Jon Voight and his daughter Angelina Jolie, and many, many more. What might the title of this article imply? That there exists a “gene for” becoming a Hollywood star. Aren’t you tempted to think that, besides the morphological similarity that is evident in many of these parent–child cases, there is also something else, like acting talent, that runs in families? As the CNN article states, there is: the “star gene.”

Other news articles make similar claims, reporting conclusions from research in genetics. For instance, an article in the Financial Times titled “Genes determine how young use internet and social media” reported that “Genes play an unexpectedly big role in determining how young people use the internet and social media, according to a large UK study of 16-year-olds.” Reporting on the same UK study, another article in Science Daily, under the title “Online media use shows strong genetic influence,” suggested that “Online media use such as social networking and gaming could be strongly influenced by our genes.” Genes have also been reported to impact financial success. This was suggested by an article in the Daily Mail titled “Being rich and successful really IS in your DNA: Being dealt the right genes determines whether you get on in life,” and by an article in The Times titled “Scientists find 24 ‘golden’ genes that help you get rich” (these two articles reported on different scientific studies). Could there be a “gene for” using social media or being rich?

And there is more. Did you know that your romantic life also seems to be affected by your genes? If you have a happy marriage, it may be due to your genes. “Key to a happy marriage? It’s in your genes, scientists discover,” an article in the Telegraph informs us. “This gene could be the secret to a happy marriage: study,” we read in the New York Post. Both of these articles reported on a study suggesting that people with a specific genotype (that is, a particular combination of alleles) were more likely to report higher satisfaction in their marriages. But what if your marriage is not a happy one? Again, genes may have the answer, because “Infidelity lurks in your genes,” according to the New York Times. This article reported on a study that found that “Women are more likely to cheat on their partner if they carry the ‘infidelity gene’,” as the Daily Mail also reported. And if you have no relationship at all, no worries! Companies like Gene Partner can analyze your DNA and find the perfect match for you because, as they state on their webpage, “Love is no coincidence!” What they do is “Matching people by analyzing their DNA.”

What is the message conveyed by media articles like these? Whether you have a happy, romantic relationship, an unhappy one, or no relationship at all may not be due to your choices or to those of your (actual or potential) partners. Whether you are rich or not may not be due to the hard work you did or did not do, or the circumstances you happened to experience or not experience. Whether your adolescent child spends a lot or limited time on social media may not be due to your parenting or to what they see their friends and other people doing. Whatever you did or did not do, whatever you could or could not do, may not be that important; genes are presented as the main causal factors for any of these life outcomes. The attribution of such outcomes to genes is actually a win–win situation. On the one hand, you are not to blame if you do not have a happy marriage, if you did not become rich, or if your child is addicted to social media, because there was nothing you could do – it is in the genes. On the other hand, other people or society at large are not to blame for how they treated you, for the opportunities they did not give you, or for the prevalent models that influenced your child, because there was nothing you could do – again, it is in the genes.

Several commentators have long argued that such media representations of genes can be misleading, and can perpetuate inaccurate conceptions about what genes are and, especially, what they can do. In 1991, epidemiologist Abby Lippman coined the term “geneticization” to describe the phenomenon of making overt attributions to genes:

Quoting Lippman, biologist Ruth Hubbard presented a book-length account of several facets of our lives in which geneticization seems to prevail: our characteristics, disease, behaviors, education, employment, and more. In the afterword of that book she noted that

But why has so much power been attributed to genes?

Sociologists Dorothy Nelkin and Susan Lindee, in their analysis of the public representations of the gene, argued that “the gene of popular culture is not a biological entity. Though it refers to a biological construct and derives its cultural power from science, its symbolic meaning is independent from biological definitions. The gene is, rather, a symbol, a metaphor, a convenient way to define personhood, identity, and relationships in socially meaningful ways.” According to Nelkin and Lindee, the images and narratives of the gene in popular culture convey a message that they call genetic essentialism, which “reduces the self to a molecular entity, equating human beings, in all their social, historical, and moral complexity, with their genes.” According to them, “Today these narratives [of mass culture] present the gene as robust and the environment as irrelevant; they devalue emotional bonds and elevate genetic ties; they promote biological solutions and debunk social interventions.” This simply means that to a large extent who we are and what we do are largely determined by our genes; non-genetic influences such as environmental ones do not matter. This is a view of genetic determinism (though not explicitly defined as such) that is according to Nelkin and Lindee predominant in popular culture.

However, not all agree with the view that genetic determinism messages are widespread in popular culture. Rhetorical criticism scholar Celeste Condit, and her colleagues, conducted a systematic analysis of 653 magazine articles published during the twentieth century in the USA, in order to assess whether or not they conveyed messages about genetic determinism, defined as “the assignment of exclusive influence over human outcomes to genes.” They divided the twentieth century into four periods, having found that different metaphors about genes predominated in each of these periods. According to their analysis, the messages conveyed in magazines have not been more deterministic in more recent times than in the past. Nor has determinism ever been the most prevalent message, as there have been more statements about an influence by both genes and environment than about the influence of genes alone in all periods (Table 1.1). Therefore, genetic determinism was not the prevalent message in magazine articles in the twentieth century, at least in the USA, according to this study.

Another study analyzed how the gene concept has been presented in major national newspapers from the USA, the UK, France, and Norway. Science communicator Rebecca Bruu Carver and her colleagues analyzed how the gene was represented in 600 randomly selected, gene-related articles published between July 2005 and July 2008. The framework they used distinguished between the five following ways of framing the gene concept: (1) symbolic, referring to an abstract or metaphorical representation of inheritance; (2) deterministic, referring to a definite causal agent that might even act against environmental factors; (3) relativistic, referring to a predisposing factor; (4) materialistic, referring to a discrete physical unit; (5) evolutionary, referring to the central object of evolution, a marker for evolutionary change, or a factor that interacts with the environment. Carver and colleagues found that there was no overrepresentation of the deterministic frame as it was found in only one-sixth of the articles (Table 1.2). The authors concluded that older accounts of genetic determinism largely concerned symbolic representations of the gene concept, whereas actual claims of genetic determinism were not common in public discourse. In other words, recent newspaper accounts in the USA, the UK, France, and Norway of what genes are and what they do have not been overtly deterministic.

Other science communication scholars have explored the representations of genetics in popular culture, especially in novels and films. Science communication scholar David Kirby has analyzed several science fiction films produced during the twentieth century, focusing on their treatment of eugenics. According to his analysis, during the first period (1900–1929) many films uncritically accepted “the eugenicist’s conception of humanity’s tainted animal heritage,” while at the same time warning that any attempt to alter human nature is either doomed to fail or to create soulless monsters such as those in Frankenstein and Dr. Jekyll and Mr. Hyde. The second period (1930–1949) is characterized by the same ideas, with films having two main themes: initially “mad evolutionist” characters who design evil experiments to show humanity’s connection to the animal world, and later Nazi-like mad scientists who aim to create super soldiers. The films of the third period (1950–1969) are characterized by concerns about a nuclear war and the subsequent effects of radiation, with very few films making any reference to DNA. During the fourth period (1970–1989), films focus extensively on genetic engineering and recombinant DNA technology, with the latter representing the most important threat. Finally, films during the last period (1990–2004) suggest that identity resides in genes and that any attempts to alter the genome would fundamentally change it. Despite the differences in the main themes and messages of the films of these periods, Kirby concluded that they almost uniformly convey the message that our fundamental nature lies within our genome, with the implication that this nature could be improved by genetic engineering. However, these very same films are critical toward any such kind of intervention by technological means. In this sense, the message conveyed is that the genome is sacred and so we should refrain from making any changes to it because we would thus alter its authenticity.

Film and literature scholar Everett Hamner has provided a detailed analysis of science fiction novels and films from the 1960s to very recently, identifying three kinds of narratives: (1) genetic fantasy, in which a new finding or tool is considered in distant-future or super-hero stories with the aim of commenting on the current situation; (2) genetic realism, where science fiction inspires technically detailed and plausible scenarios; and (3) genetic meta-fiction, where the fantastic and real are blurred. According to Hamner, genetic fantasy emerged first during the 1960s and the 1970s, when speculation about genetic recombination was popular. Genetic realism grew out of genetic fantasy after the Human Genome Project, during the 1990s and the 2000s, when technologies related to genes had advanced. Finally, genetic meta-fiction emerged more recently from the other two genres, describing a self-awareness about gene testing and editing. Hamner noted that these three narratives did not replace one another but rather overlapped, resulting in a cumulative rather than a successive trend. Differences notwithstanding, Hamner showed that in novels from all three genres there is a tendency to resist genetic determinism, for instance, by highlighting human uniqueness even in the case of clones, by rejecting the notion that genes determine fate, or by also considering the role of environment and culture as well as chance and choice. Overall, the idea of genetic determinism exists in science fiction novels and films, but it is often questioned.

How about television? Film scholar Sofia Bull has analyzed the representation of genetics in TV series and shows such as CSI and House, as well as various documentaries, sitcoms, and genealogy reality shows in the USA and the UK. Her main conclusion has been that in the beginning of the twenty-first century, notions of uncertainty and complexity, and ideas about the modifiability of biological processes and bodies, have gradually come to coexist with the older, established essentialist, determinist, and reductionist notions about DNA. As Bull argued, and showed with various examples, television functions as a cultural forum on genetics that stages multifaceted negotiations between long-standing essentialist ideas and the new genetics. For instance, genealogy TV shows convey the message that kinship and ancestry are ultimately located in, and determined by, genes. Bonds between “blood relatives” are overemphasized as they are considered to be more real or true than other social affiliations. This is based on an essentialist and determinist understanding of the genome as containing the blueprint of both identity and relatedness. However, on several occasions, programs also present insights from research in epigenetics (see Chapter 6) that highlight the complex and dynamic nature of genetic ancestry. Bull concluded that “Although essentialist perspectives have remained prominent on television, particularly across forensic crime procedurals, genealogy TV and family-centric reality shows … distinctive elements of television’s visual form, narrative structure, production, distribution and reception has made it a key site for gradually imagining a more complex and indeterminate (molecular) world.”

Overall, one can conclude that whereas ideas about genetic determinism and genetic essentialism (and sometimes genetic reductionism) exist in the media, they are not the predominant ones and tend to coexist with ideas about complexity and multicausality, especially in the era of genomics. There exist, of course, individual cases where the impact of genes is exaggerated, as in the examples that I presented in the beginning of this section, but these are not the only ones. Let us now see what people’s beliefs about genes can be.

The Public Perception and Understanding of Genes

It is far from simple and straightforward to describe the public perception and understanding of genes, because most of the available data come from studies in the USA and Europe. As some researchers have nicely put it, most people in the world are not WEIRD: Western, Educated, Industrialized, Rich, and Democratic. According to an estimate, these people represent a minority of the people on earth (about 12 percent of the global human population), but most research has been conducted in these populations. As not many studies reporting data from a variety of countries and cultural contexts exist, conclusions about the public understanding of DNA and genes are not easy to make.

However, there is one recent study that reports the results from a very large public survey on attitudes toward genomic data sharing, which involved 36,268 individuals across 22 countries. Even though this study focused on participants’ willingness to donate DNA and medical information, there were some interesting findings at the conceptual level. The researchers asked participants the following question: “Are you familiar with DNA, genetics, or genomics?” Those participants who answered no were classified as being “unfamiliar.” Those participants who answered yes were subsequently asked to choose among various reasons for being familiar. Their choices helped researchers distinguish those participants who had personal experience of genetics (being either patients with a genetic disease, or having a family history of a genetic disease, or being professionals who work on genetic disease), who they classified as having “familiarity through personal experience.” All the other participants who answered yes to the initial question were classified as having “conceptual familiarity.” Overall, the majority of participants across the world stated that they were not familiar with the concepts of DNA, genetics, and genomics: 64.2 percent (23,273 participants) were unfamiliar with these concepts; 25.3 percent (9,182 participants) were familiar in general; and 10.5 percent (3,803 participants) had familiarity through personal experience. Participants’ responses for each country are presented in Figure 1.1. With the exception of Italy and the USA, more than half of participants in all other countries stated that they were unfamiliar with DNA, genetics, or genomics. Given that familiarity does not necessarily entail knowledge and understanding – as someone may have heard a term but not know much about it or simply misunderstand it – it is probably the case that fewer people actually knew what DNA, genetics, or genomics are than declared themselves to be familiar with these terms.

Figure 1.1 Unfamiliarity with DNA, genetics, and genomics, and perception of DNA as being different from other kinds of medical information (“genetic exceptionalism”) across 22 countries.

Data from Middleton et al. (2020) Global public perceptions of genomic data sharing: what shapes the willingness to donate DNA and health data? American Journal of Human Genetics, https://doi.org/10.1016/j.ajhg.2020.08.023.

The study also investigated participants’ perceptions of genetic exceptionalism: whether DNA data are different than other kinds of health data. According to this view, genetic information is special “because it is uniquely identifying, directly links us to our relatives or can provide information about our past, present and future health,” and therefore is different than any other kind of medical information. Participants were asked the question “Is DNA information different to medical information – what do you think?” and could choose among three options: “Different,” “The same,” “I’m not sure.” Overall, 53 percent (17,044) of participants viewed DNA as being different from other kinds of medical information. However, there were very different views across the various countries, as shown in Figure 1.1. In Belgium, Canada, France, Germany, India, Japan, Russia, and Switzerland most people thought that DNA information was the same as other kinds of medical information. In all other countries, most people thought it was not, with the exception of the UK, where opinions were exactly divided. Figure 1.1 provides an overview of these data. Several inferences could be drawn, but more detailed research is necessary.

Let us consider another study that looked at the genetics knowledge of participants in the Coriell Personalized Medicine Collaborative. This study involved 4,062 participants in the USA who completed a genetics knowledge and genetics education questionnaire. Among these, 674 were working in the domain of healthcare (HC group) and the other 3,388 had nothing to do with it (NHC group). The findings revealed incoherent understandings. On the one hand, 95.2 percent of the NHC group and 99.6 percent of the HC group answered correctly that the statement “The onset of certain diseases is due to genes, environment and lifestyle” is true. On the other hand, only 66.5 percent of the NHC group and 84.9 percent of the HC group correctly answered that the statement “A ‘complex disease’ is a health condition brought on by many genes and lifestyle and environment” is true. These differences can be interpreted in various ways. However, if participants’ responses are not consistent, then their understanding may not be solid – especially if one considers that only 46.7 percent of the NHC group and 58.8 percent of the HC group correctly considered the statement “All body parts have all of the same genes” as true.

Another study in the USA used an online survey to investigate the beliefs of 1,041 participants about genetic and environmental contributions to differences among people for 21 human characteristics (eye color, blood group, color blindness, height, bipolar disorder, schizophrenia, attention deficit/ hyperactivity disorder, breast cancer, diabetes, alcoholism, violent behavior, political beliefs, obesity, personality, blood pressure, athleticism, heart disease, musical talent, sexual orientation, intelligence, and depression). Participants were asked to evaluate the basis of these characteristics on a 1–5 scale (only environmental factors = 1; mainly environmental factors = 2; genetic and environmental factors contribute roughly the same = 3; mainly genetic factors = 4; only genetic factors = 5). Participants considered differences in height, eye color, blood group, and color blindness as the characteristics most strongly influenced by genetic factors, with mean scores above 4. Political beliefs were estimated to have the smallest genetic contribution, and was the only one with a mean below 2 (Table 1.3). It is obvious that, except for the biological characteristics and some diseases, participants considered the differences among people for the majority of characteristics as influenced by both genetic and environmental factors. These findings may seem to support the conclusion that beliefs in genetic determinism may not be that high and that people overall believe that both genetic and environmental factors contribute to our characteristics. I should note, though, that acknowledging that multiple factors affect the development of characteristics is not inconsistent with prioritizing genetic explanations. This means that even if people state that both genes and environment influence characteristics, they may still believe that the genes are more important than any other factor.

A different study aimed at exploring how the public interprets news about behavioral genetics, which usually attracts a lot of attention in the news. Overall, 1,413 participants from the USA were given one of three published news articles: 471 were given an article titled “‘Liberal gene’ discovered by scientists”; 475 were given an article titled “Born into debt: gene linked to credit-card balances”; and 467 were given an article on cancer genetics, titled “Key breast cancer gene discovered” (the latter was the control group of the study). The results supported the conclusion that the readers not only generally accepted the information presented to them in the “liberal gene” and “card gene” articles, but also that they inadvertently generalized the influence of genetics to other behaviors that were not mentioned in the articles they read. For example, the participants who read the “liberal gene” article were more likely than the control group to suggest a genetic attribution not only for being liberal or conservative, but also for sexual orientation, mathematical ability, alcoholism, behaving violently, gambling addiction, and having credit card debt. Similarly, the participants who read the “credit card gene” article were more likely compared to the control group to suggest a genetic attribution not only for having credit card debt, but also for all the other orientations, skills, and preferences mentioned. It should be noted that there were no significant differences in the genetic attributions for biological characteristics between the treatment groups and the control group. Overall, one can conclude from this study that people may interpret research on behavioral genetics in an incautious manner, and form beliefs that are not supported by the scientific evidence presented in the articles they had read.

But what exactly is so special about genetic information? Several small-scale studies led by social psychologist Steven Heine have shown that many people hold the view described earlier as genetic essentialism. Heine and colleagues consider essentialism as the idea that all characteristics and properties stem from particular factors, which are internal, existing at the deepest possible levels, and which can be transferred. They have concluded that laypeople apply particular essentialism biases when thinking about genes, which in turn they perceive as being our essences. In this view, genes are:

• immutable – that is, less changeable and more predetermined;

• the ultimate causes, making consideration of other causal factors unnecessary;

• the basis for drawing the boundaries of categories, as members of the same category should have a similar essence and clearly different from the essence of members of another category; and

• natural, in the sense that when a characteristic is attributed to genes, this is how it ought to be.

A first point to note is that the framework of Heine and his colleagues does not distinguish between essentialism, determinism, and reductionism, the way I did in the preface of the present book, and rather lumps them together under the label of essentialism. Beyond this, there is evidence from various small-scale studies that people tend to think in this way. For instance, three studies were conducted in Canada to examine what consequences people draw from a perceived genetic etiology for obesity. In the first study, 131 undergraduates indicated whether or not they believed that obese people can control their weight, as well as that obesity originates from a genetic predisposition or environmental causes. The researchers found an association between a belief in genetic etiology for obesity and a belief that obese people cannot control their weight. These associations were further explored in a second study, in which 143 undergraduates were asked to express their beliefs about an obesity-related phenomenon (metabolic rate) in the light of particular explanations. The researchers concluded that a genetic attribution for high metabolic rate was interpreted as more important than an experiential attribution. Finally, in a third study, 162 undergraduates read one of three fictional media reports presenting a genetic explanation, a psychosocial explanation, and no explanation for obesity. The researchers found that participants who had read the genetic explanation ate significantly more than the others on a follow-up task. These studies support the conclusion that genetic arguments for obesity make people report and act as if genes make obesity a condition beyond one’s personal control.

Overall, even if people do not generally prioritize genetic factors over environmental ones, there is evidence that when they are told that genetics is the most important influence, this is a message that they can readily accept. One might argue that genes and DNA are embedded in popular culture in ways that environmental factors are not, as I showed in the previous section. As the studies of media and laypeople’s understandings presented so far are independent of one another, it is now worth looking at a particular case of the direct impact of media representations on people’s understanding of genes.

The Impact of Media Representations on Understanding: Angelina Jolie’s Double Mastectomy

On May 14, 2013, actress Angelina Jolie wrote a short essay for the New York Times in which she revealed that she had undergone a double mastectomy for preventive purposes. The reason was that she had been found to carry a “faulty gene,” BRCA1, that “sharply” increased her “risk of developing breast cancer and ovarian cancer.” In addition, her mother had died at the age of 56 after fighting for 10 years with cancer. Jolie noted that her doctors had estimated that her risk for breast cancer was 87 percent and her risk for ovarian cancer was 50 percent, as well as that “only a fraction of breast cancers result from an inherited gene mutation.” She also noted that her chances of developing breast cancer after the double mastectomy dropped from 87 percent to 5 percent. She concluded her essay by writing:

In 2015, she wrote another essay in the New York Times in which she explained why she also had her ovaries and fallopian tubes surgically removed.

Past cases of celebrity health stories have been found to attract enormous media attention, to increase public awareness about the respective disease, and to impact public perception about it, as well as to influence health decisions. Therefore, it is interesting to look at what impact Angelina Jolie’s essay had on laypeople’s interest in and questions about breast cancer, how her choice to undergo double mastectomy was represented in the media, what people understood and inferred from these representations about breast cancer and its genetic basis, and whether there was any influence on people’s decisions to undergo medical procedures related to breast cancer. The genes of interest in this case are BRCA1 (breast cancer 1, on chromosome 17) and BRCA2 (breast cancer 2, on chromosome 13) – humans have 23 pairs of chromosomes (22 autosomes, numbered 1–22, and a pair of sex chromosomes, either XX or XY). Particular BRCA1 and BRCA2 alleles have been associated with breast and ovarian cancers. BRCA1 and BRCA2 genes produce proteins that help repair damaged DNA and thus contribute to the stability of the genetic material of a cell by acting as tumor-suppressor genes. When certain mutations (changes in the genes) occur, DNA damage may not be repaired properly, and so cells are more likely to acquire additional mutations that may contribute to the development of cancer. It must be noted that mutation means “change,” nothing more; whether this change has a good or a bad outcome is a different story. In the simplest case, there can be a change in a single “letter” in DNA. Such a mistake may not affect the message at all; it may affect it a little; or it may change it significantly (how mutations arise is explained in Chapter 2).

The publication of Jolie’s essay aroused people’s interest in breast cancer and exploded information searches about it. One study used digital surveillance of web data to analyze online search queries for breast cancer from 2010 to 2013 in the USA to investigate whether Angelina Jolie’s announcement stimulated cancer-related information-seeking. It was found that, compared to the preceding six weeks, there was a 112 percent increase in general information queries, a 165 percent increase in risk-assessment queries, a 2,154 percent increase in genetics queries, and a 9,900 percent increase in treatment queries on the day of the announcement. Compared to the previous three years, both genetics and treatment search queries reached the highest levels ever. Another study measured the number of page views of the resources on the National Cancer Institute website over a nine-week period (three weeks before and six weeks after the announcement). The researchers also looked at the sources (including search engines and news outlets) used over the same period. It was found that overall there was a dramatic increase in page views on the day of the announcement: a 795-fold increase in page views of the “Preventive mastectomy” fact sheet; a 31-fold increase for the “BRCA1 and BRCA2: cancer risk and genetic testing” fact sheet; and an 11-fold increase for the “Breast reconstruction after mastectomy” fact sheet. There was also a 5-fold increase for the “Genetics of breast and ovarian cancer” summary, which is intended for health professionals. Among the sources, news outlets had the largest impact. Whereas before the announcement news outlets comprised 0 percent of the sources, on the day of the announcement 86 percent of the referrals were from news outlets. Overall, these studies show the big impact that Jolie’s announcement had on information-seeking about cancer.

So, many people looked for information on breast cancer following Jolie’s announcement. But what did they find in the media? One study investigated the portrayal of Angelina Jolie’s double mastectomy in the top five daily newspapers in Canada, the USA, and the UK. The sample included 103 newspaper articles published in the first month after the announcement (41 articles published in the USA, 34 in the UK, and 28 in Canada). About half of these articles were published during the first three days after the announcement, in the news section of those newspapers (not in the entertainment or lifestyle sections). The primary issue about the BRCA gene mutations that was highlighted in 72 of the articles was the increased risk of hereditary breast/ovarian cancer. Overall, 59 articles were supportive of Jolie’s announcement, 33 presented it in a rather descriptive manner, and 6 included both positive and negative comments. Her decision was described as “brave and courageous” in 40 articles, as “rational, well-informed, and evidence based” in 23 articles, and as “empowering, inspiring, and a role model for other women” in 13 articles. At the same time, only 33 articles discussed that Jolie’s condition was rare and that most women who get breast cancer are not carriers of BRCA alleles (this topic is discussed in detail in the ,next section). In addition, only 28 articles addressed the question of how effective the double mastectomy is compared to alternative methods, which were described as more effective in only 8 articles, whereas 19 articles mentioned its possible drawbacks. In conclusion, whereas newspaper articles were careful in how they presented medical information and did not make exaggerated claims about the efficacy of mastectomies, they were overall positive toward Jolie’s decision.

Another study explored what types of information about Angelina Jolie’s decision people could find on websites, as well as how that information was framed. The sample consisted of 92 open-access websites that had Jolie’s decision as their main message. The majority of the websites briefly mentioned that Jolie had an extremely high risk for developing breast and ovarian cancer due to the BRCA1 allele she carried. However, only a few of them explained when someone is susceptible, what the estimates associated with the various BRCA alleles are, and what factors put an individual at risk of developing cancer. The majority of the websites also briefly described Jolie’s double mastectomy, focusing on the reasons for doing this and on the possible alternatives. In Jolie’s case, the reasons for undergoing the mastectomy were her fear that she might die at a young age, like her mother, and her willingness to do as much as she could to avoid this. Many websites noted that not all health experts understood such a choice. In addition, 53 of them mentioned other alternatives to mastectomy. It should be noted that some of the websites mentioned Jolie’s privileged position that allowed her to be able to afford the related medical procedures. All this information was either framed in a positive, negative, or a positive and negative way. Some websites described her decision as “empowering,” “inspirational,” or “brave,” while noting that her public announcement was a “real service to women” and “helps others to learn and be informed.” In contrast, other websites were concerned about the unintended consequences of her announcement, such as the overexaggeration of personal risk and the misperception that the prophylactic mastectomy was the only option.

All this brings us to the most important question: How did people perceive and understand this story, and what kinds of conclusions did they reach? An online survey conducted in the USA within three weeks of Jolie’s announcement, with a representative sample of 2,572 adults, aimed at documenting whether participants recalled the Angelina Jolie story, what elements of the story they had retained, and how they understood it. The researchers found that 74 percent of participants were aware that Jolie had undergone a double mastectomy to reduce her risk of developing breast cancer. Among those participants who were aware of the story, 47 percent mentioned her risk as being 80–90 percent (the risk disclosed by Jolie herself was 87 percent). However, only 206 participants correctly reported the contribution of BRCA mutations to all breast cancer cases, and only 284 knew the risk for women without the BRCA alleles (with only 81 participants correctly answering both questions). Overall, 72 percent of participants thought that Angelina Jolie did the right thing to publicly announce her decision, with 73.5 percent of women and 65.7 percent of men thinking that she made the correct decision in undergoing the mastectomy. Interestingly, 57.4 percent of the women said that they would have undergone the surgery themselves if they carried the “faulty” gene, and 49.9 percent of the women said they would recommend the surgery to a family member in such a case. Overall, the authors of this study noted that whereas 3 out of 4 participants were aware of Jolie’s story, fewer than 1 in 10 could correctly interpret the information about Jolie’s risk of developing breast cancer relative to women unaffected by the BRCA gene mutation. In other words, an increased awareness of the story was not associated with an increased understanding of the condition.

A similar study in the USA was based on an online survey that was completed by 1,008 people, approximately six months after Jolie’s announcement. The survey had questions about participants’ awareness of the story, the genetic risk for breast cancer, their confidence applying their knowledge to a situation similar to Jolie’s, and their views about prophylactic mastectomies. Participants had heard about Angelina Jolie’s story on an average of 3.5 times. All genetic literacy skills questions were answered correctly by more than half of the participants, with 63 percent of them having at least four correct responses. In addition, 58 percent of the participants were at least somewhat confident in relying on their genomics knowledge to assess a mastectomy decision. About half of the participants (51 percent) neither agreed nor disagreed with whether women with BRCA mutations should have a mastectomy; among the rest, about 19 percent agreed and about 24 percent disagreed that women with BRCA mutations should have a mastectomy. Interestingly, the researchers found that high media exposure resulted in higher confidence about one’s skills to assess such a situation for those who had been found to have lower genetic literacy skills. At the same time, they also found that increased confidence in applying genomics was associated with favoring mastectomies. The majority of the participants appeared to have appropriate confidence, as 70 percent of those with above-average confidence also had above-average genetic literacy skills. However, this was not the case for the remaining 30 percent. Therefore, repeated exposure to the media might make some people more confident than they should be, given their understanding of genetics, in making a decision such as the one Jolie made.

Overall, Angelina Jolie’s decision was portrayed as a brave one in the media, and the majority of people thought that, given she carried the particular BRCA allele, she made the right choice to proceed to the prophylactic double mastectomy. However, the problem here is that a perceived genetic etiology was generally considered to justify the prophylactic mastectomy that Jolie underwent. But Jolie was not diagnosed to have cancer; rather, she was found to have an allele that was related to a higher probability than average for developing cancer. Without having any intention whatsoever to judge Jolie’s decision, in the next section I consider in some detail the underlying facts, so that you get a better understanding of this situation.

Genetic Disease and Risk Literacy

Having presented the public representation and perception of the Angelina Jolie story, it is now useful to consider the underlying facts in a bit more detail. There are at least three important issues to consider. The first one is how people understand probabilities, and – perhaps most importantly – what probabilities mean. Earlier we saw that Angelina Jolie’s risk for breast cancer was 87 percent. There are two types of risk: absolute and relative. Absolute risk is the probability for a person to develop a disease over a period of time, usually a lifetime (in this case, it is described as a lifetime risk). For example, an absolute risk of 0.4 indicates that the probability for a person to develop cancer over a period is 40 percent. In contrast, relative risk is defined with some reference point in mind. For instance, if one suggests that the relative risk for a person carrying a certain allele to develop a certain form of cancer is 1.5, this means that the probability of this person developing cancer is 50 percent higher than that of a person not having the same allele.

Psychologist Gerd Gigerenzer has shown convincingly that numbers like this may confuse people, and has suggested using frequencies rather than probabilities when talking about risks. An absolute risk of 0.4, which indicates that the probability for a person to develop the disease is 40 percent, practically means that 40 out of 100 people of a certain group will develop the disease over a certain period of time. Let us assume that this is a group of people who do not have a certain allele A. Imagine now that in another group of people carrying allele A, the absolute risk of developing the disease is 0.8. This means that 80 percent, or 80 out of 100 people, of this group will develop the disease. In this case, allele A is considered to increase the absolute risk for this second group by 40 percent. Now the relative risk is the ratio of the probability of people carrying allele A to develop the disease over the probability of people not carrying allele A to develop the disease. In this case, this would be 0.80/0.40 = 2. A relative risk of 2 practically means that people carrying the allele have 100 percent higher probability, or twice the risk, to develop the disease than those who do not carry it (Table 1.4).

Given these considerations, what is the impact of the BRCA genes on the risk of development of breast cancer? Consider the following statements in the 2019 report of the American Cancer Society: “Compared to women in the general population who have a 10 percent risk of developing breast cancer by 80 years of age, risk is estimated to be about 70 percent in women with pathogenic variants in BRCA1 and BRCA2.” What does this mean? It means that whereas by 80 years of age 10 out of 100 women of the general population will have developed breast cancer, this will be the case for about 70 out of 100 BRCA1 and BRCA2 mutation carriers. Obviously, the BRCA genes can make a big difference. But these probabilities also mean that one out of three women with these genes will not develop breast cancer. Most importantly, these data reveal nothing about whether these women will die from breast cancer.

This brings us to the second important issue to consider: Cancer is a complex disease that is not caused by a single gene. In other words, the mutated versions of BRCA1 and BRCA2 genes do not alone cause breast cancer. How cancer(s) develop is discussed in detail in Chapter 4. For now, it suffices to say that many genes contribute to the development of complex diseases such as cancer. For instance, one study followed 2,733 women aged 18–40 years who had been diagnosed with breast cancer. Among these, 338 women (12 percent) were found to have a pathogenic BRCA mutation (201 with BRCA1, 137 with BRCA2). A follow-up study of these women for up to 10 years showed that whereas there were 651 deaths due to breast cancer (out of a total of 678), there was no significant difference in overall survival between BRCA-positive and BRCA-negative women. In other words, women with young-onset breast cancer who carried a BRCA mutation had similar survival rates as noncarriers. This shows that the connection between the BRCA alleles and cancer is not deterministic but probabilistic.

The last issue to consider is how many women are actually concerned by the BRCA alleles. According to the American Cancer Society, the lifetime risk for a woman to develop breast cancer is 12.8 percent, or one in eight. This implies that over the course of a lifetime, on average one in eight women will develop breast cancer. Will those women die from it? Not necessarily, as the estimated lifetime risk for dying from breast cancer is estimated at 2.6 percent, or 1 in 39. Therefore, one should be careful when interpreting these probabilities. In addition, I must note that this is only statistics, not some law with predictive power. This means that it is possible that no woman within a particular group of 8 women will develop breast cancer and that no woman within a group of 39 people will die from it. Table 1.5 presents the estimated risk for women to develop breast cancer at various ages.

The report of the American Cancer Society also states:

This means that out of 100 women who will develop breast cancer, only 5–10 will be BRCA1 and BRCA2 mutation carriers. In other words, 90–95 out of 100 women who will develop breast cancer will not be BRCA1 and BRCA2 mutation carriers. Furthermore, if the BRCA alleles are rare, 1 in 400 or 0.25 percent, it means that very few women in the general population are affected. Therefore, Angelina Jolie’s case is a rare one and most women should not be concerned.

Geneticist Mary-Claire King was awarded the 2014 Lasker-Koshland Special Achievement Award in Medical Science “for bold and imaginative contributions to medical science and society – exemplified by her discovery of a single gene BRCA1 that causes a … form of hereditary breast cancer.” In a viewpoint article related to that award, King and her coauthors suggested that population-based screening of women for BRCA1 and BRCA2 should become a routine part of clinical practice. This should focus only on mutations that are clearly related to cancer development. The article concluded that:

Attempting to confirm or disconfirm the presence of BRCA alleles might be important in the case of people with a family history of breast cancer, such as Angelina Jolie herself. In such cases, mutations can be considered as “actionable.” But it should be made clear to people that genetic tests can only provide some information about the probability of developing a disease, and in no way can they predict whether this will happen or not. A woman who is overweight (a risk factor for breast cancer for older women) can lose weight, which would be beneficial for her health in general. But for a woman who finds out that she carries the BRCA alleles related to breast cancer, there is not much she can do. She could be one of the 70 out of 100 women (on average) who will develop breast cancer; but she could also be one of the 30 out of 100 women (again, on average) who will not develop breast cancer. The choice of double mastectomy that Angelina Jolie made is certainly an option. But whether this is the best one is a very personal decision. A woman carrying the BRCA alleles might not develop breast cancer, whereas an overweight woman who does not carry those alleles might. All medicine is probabilistic. Obviously, if people are well informed and they have understood the advantages and the disadvantages of the available options, then they could make their own decisions. What is more difficult to achieve is to realize, and live with, the underlying uncertainties.

The story is, in fact, even more complicated for various reasons. First, mutations in the BRCA genes produce a range of increases in cumulative average risk of breast and ovarian cancer up to a certain age. A “70 percent” risk is actually an average of a range of values. Second, there are different kinds of mutations in the BRCA genes, some of which increase risk more significantly than others. That is, there’s not a single BRCA1 or BRCA2 mutation, but many different ones. Third, even for two individuals with the same mutation in the BRCA genes, their actual probability of getting cancer may not be the same because of the influence of other factors, such as diet, exercise, etc. Finally, surgery itself carries risk, so it should not be presented as a simple intervention that can save a woman from cancer.

Physicians have an important role in these decisions, as they might prefer to prescribe a genetic test in order to refrain from leaving themselves open to charges of negligence. But there is also the choice not to know. If one is going to develop a disease in x years (something that cannot be foretold) and live with the disease for another y years (how many, it is not possible to know), the y years living with the disease will likely be difficult independently of the values of x and y. Is there any point making the rest of one’s life, the x years, stressful and miserable by anticipating the (probable or improbable) onset of the disease? Rather than live x stressful years and y years with the disease, one might choose not to know and to live in the present without worrying what the future will bring. Whether or not this is the best decision is subjective and debatable, but deciding not to know whether, for instance, a woman carries the BRCA mutations is a choice. Worse than this, a negative BRCA test result might make a woman falsely reassured that she will not develop breast cancer, but not having the specific alleles that a test looks for does not mean that a person does not have another one that the test simply did not detect.

Overall, about 15–20 percent of breast cancer is familial; that is, 15–20 percent of affected women have one or more first- or second-degree relatives with the disease. There exist several high-risk variants, which are very rare and which confer a relative risk of breast cancer higher than 4. These are variants in genes such as BRCA1, BRCA2, TP53, STK11, CD1, and PTEN, and they account for approximately 20 percent of the familial risk. There also exist moderate risk variants that confer a relative risk of breast cancer between 2 and 4, which account for up to 5 percent of the inherited familial risk. Finally, there exist more than 180 identified low-risk variants that confer a relative risk less than 1.5 and explain 18 percent of the familial risk. This entails that approximately 57 percent of the genetic background in familial breast cancer is unaccounted for now, and that there is more to breast cancer than the BRCA1 and BRCA2 genes. This is why a negative test does not tell us much.

I have thought a lot about these questions on a personal level. My maternal grandmother (who was overweight, by the way) died of breast cancer at the age of 58. My mother was 32 years old at the time. Nowadays, at the age of 65, she has never developed cancer, and has periodic tests to ensure that if cancer develops there will be time for treatment. Not knowing whether she carries an allele related to breast cancer has let her live her life without worrying. I do not think that a genetic test would have had any positive effect – in fact, a negative test might have falsely reassured her, made her believe she would never develop breast cancer and therefore neglect the precautionary periodic controls. I would not advise my own daughter to take a BRCA test either.

What is the conclusion? The extreme focus on BRCA mutations, especially through public accounts such as the Angelina Jolie story, perhaps distracts attention from other factors that affect more women than these alleles do. Women carrying the BRCA mutations should be concerned, but these are only a minority of the women who develop breast cancer. If there is a history of breast cancer in the family, then a woman should consider things differently than a woman without a family history. Of course, this way of considering probabilities makes no difference to someone who eventually develops the disease. However, the possible risks should be evaluated in a way that is as objective as possible. As sociologist Deborah Lynn Steinberg (who, perhaps ironically, died of breast cancer in 2017 at the age of 55) nicely put it: “As Jolie’s decision and its wider public reception suggest, the persuasion of the singular gene paradigm is powerfully sedimented into public understanding of both cancer and genetics.” A main aim of this book is to show that the singular gene paradigm is simply wrong for the vast majority of characteristics and disease.

Let us, then, begin our exploration of what genes are (and are not) and what genes do (and do not do).