Public Understanding of Genetics

Genes are a unit of heredity made up of DNA that contains the code to make a protein, which are the basis of the body’s structures such as skin and substances such as antibodies. According to the Human Genome Project, humans have between 20,000 and 25,000 genes, with each human having two copies of each gene, one copy inherited from each biological parent (Feero, Guttmacher, & Collins, 2010). Prior to the sequencing of the human genome, which refers to an organism’s entire genetic makeup, the lay public had little reason to understand human genetics research, as the science was limited and had little impact on most people’s daily lives. The era of traditional genetics research focused on conditions relating to a single gene such as cystic fibrosis and sickle cell disease. That situation has changed, as genomic science now addresses genes and genetic material as a dynamic system, revealing how genes function and interact with nongenetic factors, including the environment and lifestyle experiences (Guttmacher & Collins, 2002). Modern research has revealed genetic associations with the leading causes of mortality, including cancer, diabetes, and heart disease (Munger, Gill, Ormond, & Kirschner, 2007), making genetic research relevant for nearly everyone. These new realms of scientific discovery highlight multiple complex relationships between genes and health that may play out over months or decades, including modifications in gene expression not associated with changes in the genetic code itself, the science of epigenetics (Holliday, 2006). How genomic science relating to these discoveries is communicated influences the public’s beliefs and actions in intended and unintended ways.

The public’s understanding of genetics ranges from beliefs that genes make them susceptible for various conditions to beliefs that genes absolutely determine health status (Parrott, Kahl, Ndiaye, & Traeder, 2012). Some members of the public will be aware that genes are inherited without knowing how genes function; others will understand that genetic mutations can cause disease; and some will know that the environment impacts the expression of disease in individuals (Henderson & Maguire, 2000; Parrott et al., 2004; Smith, Greenberg, & Parrott, 2014). The severe paucity in lay knowledge about genetics, health, and risk persists even among individuals with direct experience in domains relating to single gene disorders, such as cystic fibrosis—one of most common genetic disorders in North American Caucasian populations. Family members may know about the effects of a genetic disorder due to exposure to an affected relative, but still frequently lack understanding regarding their own risk for the condition, how they can pass it on, and carrier frequency in the general population. These gaps in understanding occur, in part, because most members of the public have not received, and probably never will receive, formal genetics education (Condit, 2010). Even individuals with formal education in biology and genetics, including undergraduate and medical students nearing graduation, as well as health educators and medical experts, often lack sufficient understanding of genetics (Baars, Henneman, & ten Kate, 2005; Bowling et al., 2008; Chen & Goodson, 2007).

An extreme perceived causal role of genes for human conditions has been referred to as genetic essentialism, expanding the scope of genes’ influence to include social, historical, and moral complexities of human beings (Dar-Nimrod & Heine, 2011; Nelkin & Lindee, 1995). Communication about genes, health, and risk may induce genetic essentialist beliefs when messages highlight the role of genetics and ignore the role of environmental toxins in disease, and when there are images containing racial and ethnic content. Essentialist beliefs form an understanding of the fundamental nature of living beings, what entities can become, and a basis for similarities among members in the same category. Biological sex and race, for example, often are tied to essentialist beliefs people have about human nature, while someone’s diet or occupation are not (Prentice & Miller, 2007). Essentialism aligns with efforts to sort objects (including people) into categories and act based on beliefs about the essence of a category (e.g., stereotypes). Using information about genetic status as the primary means to categorize individuals’ essential characteristics thus has far-reaching implications for prejudicial outcomes, such as genetic stigma and discrimination.

Genetic essentialism may also reduce people’s understanding and belief in their control over resources to manage the influence of genes on health and risk. As people hold stronger genetic essentialism beliefs and weaker self and medical efficacy, they will be less likely to act in health protective ways. The public tends to overly attribute genetic origins for obesity (Ogden & Flanagan, 2008) and cancer (Molster, Samanek, & O’Leary, 2009), for example, but often fails to attribute genetic sources for mental health conditions, including depression, schizophrenia, and bipolar disorder. The results of the 2006 General Social Survey suggest that public attitudes in the United States are shifting toward attributing a neurobiological cause to mental illness, finding that 67% of the public attributed neurobiological causes to major depression in 2006 compared to 54% a decade earlier; 86% made such attributions in 2006 for schizophrenia compared to 76% in 1996 (Pescosolido, Martin, Long, Medina, Phelan, & Link, 2010). The belief that genes are overly responsible for causing disease may limit a person’s belief in the ability to improve health through personal action, such as smoking cessation, physical activity, or dietary changes. Genetic essentialism may also hinder belief in the efficacy of medical interventions, as such beliefs are associated with fatalism, and fatalism contributes to failure to seek health care (Peek, Sayad, & Markwardt, 2008; Shen, Condit, & Wright, 2009).

While communication about genes and health may result in lower health protection, raising awareness of particular genes’ roles in disease can be communicated so as to motivate individuals to choose specific behaviors and/or medical interventions as intentional strategies to address perceived risks associated with inherited genes. Communication may highlight the uncertainty around the genetic association and explicitly emphasize relevant actions one can take to modify genetic expression or disease prognosis. Communicating about genetics and health care, however, must avoid creating an overly optimistic view about the availability and efficacy of genetic therapies. Many adults may expect human genetics research to improve birth and health outcomes for children, as well as to improve health outcomes for adults when the research is far from therapeutic. Gene therapy is an area of vast resource expenditure and exciting discoveries but cannot be readily applied to changing the life course of individuals diagnosed with genetic conditions (Gurmankin, Domchek, Stopfer, Fels, & Armstrong, 2005).

With an increasing number of diseases being related to genetic contributors, media framing associated with communicating about genes, health, and risk issues together with the accessibility of information about the role of genes in illness susceptibility is increasingly important. Genetic and science literacy, together with media literacy, predict having the knowledge and skills to critically analyze genetic science content in media messages. This includes the ability to understand techniques, technologies, and institutions that produce science and media in the genomic health domain, which contributes to the likelihood that such information will be beneficial in supporting the public’s understanding and informed decisions.

Genetics in News, Entertainment, and Advertising Media

The public’s understanding about genetics and genomics comes primarily from news, entertainment media, and advertising rather than clinical communication with physicians and genetic counselors, or strategic communication from health organizations and public health campaigns. Information about human genetics research comprises an important topic in the news, satisfying such news values as recency, controversy, relevance, and projected impact. These values, however, sometimes conflict with efforts to avoid distorting health and risk information. Biologically deterministic news coverage highlighting genetic causes of disease identified in the 20th century has continued into the 21st century in press releases and news coverage of genetic research (Brechman, Lee, & Cappella, 2009). There is abundant news coverage about cancer (Jensen, Moriarty, Hurley, & Stryker, 2010; Viswanath et al., 2006), for example, and it often highlights causes of cancer, including genes (Niederdeppe, Fowler, Goldstein, & Pribble, 2010). This influx of communication about genetic science presented in oversimplified ways frequently includes inaccuracies that lead lay audiences to overly deterministic assumptions linked to health risks, alcohol dependence, and even criminality and aggression. The public often overestimates genetic influence in causing chronic conditions, while failing to acknowledge the role of health behaviors’ and environmental factors’ influence on these conditions, including in the expression of genetic predispositions.

Media theory and research suggest a wide variety of stereotyping effects arise from exemplars illustrating specific health issues, which leads to skewed perceptions of social reality. Biogenetic explanations in the news may reduce blame but induce pessimism, while also increasing stereotypes associated with human conditions and possibly triggering self-fulfilling prophecies. The news frequently exaggerates benefits associated with genetics research and technologies (Jensen, Moriarty, Hurley, & Stryker, 2010), a phenomenon referred to as “genohype” (Bubela & Caulfield, 2004; Fleising, 2001). This leads the public to assume that tests are available for the many genes being linked to disease and believe that these genes linked to disease can be altered. News stories also foster feelings that having a genetic mutation makes one not as good as someone who has not been told they have a specific mutation, despite the fact that these differences may actually be positive in some cases by promoting human adaptation and survival.

News media often use shorthand expressions such as the “breast cancer gene,” a “heart attack gene,” and “diabetes genes,” which garner attention and may be memorable, but contribute to misunderstanding among the general public (Condit, 1999). Newspaper stories about breast cancer and the BRCA1 and BRCA2 mutations were among the first broad media coverage about genes during the period of the human genome sequencing project. This news coverage that presented stories about a “breast cancer gene” led many women to seek testing for genetic contributors to breast cancer when they had no family history to suggest the presence of a gene related to increased susceptibility. Extensive media coverage, including cover stories in Newsweek and Time magazines (Jayaratne et al., 2006), appeared in the early 1990s regarding the origins of sexual orientation when several studies claimed a genetic association for homosexuality (e.g., Hamer, Hu, Magnuson, & Pattatucci, 1993). The media misrepresented the science, which included hundreds of genes, as the “gay gene,” thus suggesting that a single gene predicts homosexuality. Such misappropriation in expression continued through the first decade of the 21st century with news headlines including references to an “alcohol gene” and “disease genes” (Parrott et al., 2012). These shorthand expressions are inaccurate, as there are no “disease genes” but rather many common genomic variants that generally pose a small increase in susceptibility and risk for a broad range of chronic conditions.

When translating the meaning of human genetics research to lay audiences, news reports also rely on metaphors to compare genes to concrete, prescriptive objects, such as a “blueprint” and “recipe” (Condit, 1999). People may perceive unintended commonalities between genetics and the use of a metaphor to define genes, transferring qualities from one entity to another, which could impede understanding. Metaphors used in relationship to the human genome include the “holy grail” and “puppet masters,” a depiction that ascribes agency to the genes themselves (Cole-Turner, 1999). These metaphors link to public perceptions that genetic influences are absolute, evoking belief in the essential nature of humans in terms of their genes, and functioning as a mental heuristic or shortcut to be used to easily and quickly predict people’s actions and to form social categories. From such language, stereotypes become easier to develop, facilitating genetic stigmas and stigma communication associated with blame, perceived dangerousness, social distance, and prognostic pessimism (Kvaale, Haslam, & Gottdiener, 2013).

Stigmas are normalized, diffused, pervasive stereotypes of the disgrace of a particular group of people (Smith, 2007a, 2011). Genetic stigmas focus on those with shared genetic mutations constituting a group (Smith, 2007b), with Goffman (1963) observing that the stigmatized group and its members may not even be considered fully human. Metaphors may facilitate stigmas and stigma-related discrimination by defining groups of people based on genetics, making the categories stronger, more distinct, and highlighting a basis for group-based differences and differentiation. Distinguishing people based on their shared mutations provides a biological basis by which to question their inclusion as humans (Smith, Parrott, & Wienke, in press). Those who share the same genetic “blueprint” are seen as naturally, fundamentally, and unchangeably similar to each other and different from others. Further, these possibilities are more salient when other social categories, such as race, are added to the discussion of genes and health conditions.

Despite criticisms of how news stories convey information about genetics, health, and risk, news media also raise questions and generate debate about genetic research and policies. News science writers often include quotations from experts in their stories, supporting the value that news places on “attribution.” To support genetic literacy, the need persists to clarify statistics and scientific terms relating to genetics, qualify stories about experiments by reporting general trends as they emerge in an area rather than specific studies, and educate the public about the incremental nature of science, including genetic science. Some may debate the value of reporting stories that do not have proven human applications, such as rat research, because they may raise false hopes and promises. This form of self-censorship could, however, limit opportunities for health and health care advocacy in promising areas related to genetics and health.

Beyond news sources, public audiences frequently gain exposure to and remember entertainment media content about genetics. Indeed, the public often recalls the name of a movie or television program when discussing genes and health (Parrott et al., 2008). Movies such as Gattaca, in which a primary character’s heart and vision defects occur as a result of conception without the aid of genetic engineering in a futuristic era when genetic engineering is routinely practiced, challenge audiences to consider the ethical use of genetic information for population health, as well as clinical and personal utility. Entertainment media may also suggest that access to genetic technologies will enable parents to make choices designed to produce children who are biologically without flaws, a concern discussed in the popular media since the 1970s.

Due to increased use of genetic information by police and criminal investigators to solve various types of crimes, storylines of crime dramas post on-screen disclaimers at the beginning of a show that was “inspired by actual events” (Harris, Weiner, & Parrott, 2005). These shows position for the audience the criminal nature of the event and how forensic evidence including DNA may be used to convict or prosecute a suspected felon. Scientific interest in examining the role of a genetic foundation for actual criminal behavior finds little empirical research to support such a relationship, but the public continues to overestimate the role of genetics in influencing criminal and aggressive behaviors. Moreover, science fiction images and cartoons, such as “Teenage Mutant Ninja Turtles” and “X-Men,” possibly contribute to negative reactions to use of the word mutation to describe different versions of a gene associated with human conditions.

Entertainment media, as with the news, make efforts to increase the public’s accurate understanding. For example, some primetime TV storylines feature characters who face decisions linked to family history and positive genetic tests for gene mutations that increase risk for disease. Risk reduction strategies portrayed include surgeries, such as the decision to have ovaries, uterus, and breasts removed when genetic test results are positive for BRCA1 and/or BRCA2 (Hether, Huang, Beck, Murphy, & Valente, 2008). Storylines also depict communication about genetics and health, including resistance from a spouse, family and friends, and even physicians as characters wrestle with their decisions. Viewing such stories may increase knowledge about screening, as well as insights about preventative surgery and second opinions. These “edu-tainment” efforts face challenges from TV industry professionals, however, who view the health expert collaborators as “slow”; this may also contribute to advertisers’ desires to avoid the educational approach and advertise directly to consumers.

Advertising plays a significant role in public audiences’ understanding regarding genetics and human conditions, particularly in the United States and New Zealand where traditional commercial appeals have expanded to direct-to-consumer advertisements (DTCA). In DTCA, advertisers take medical products, such as DNA and genetic testing, directly to the public to sell, appealing to listeners to “talk to your doctor” to request these aids (DeLorme, Huh, & Reid, 2006). A core argument used in the United States to continue the practice of DTCA is public autonomy (Wasson, Cook, & Helzlsouer, 2006), with the Food and Drug Administration (FDA) mandating that DTCA balance risk and benefit content (Calfee, 2002). Guidelines are lacking about how to achieve this aim, with online DTCA for DNA testing often using language that conveys absoluteness about results and thus supporting inappropriate essentialist conclusions (Nordgren & Juengst, 2009). DTCA makes likely a continual push to market of genetic technologies, therapies, and tests to satisfy innovations and profit motives. Each arrives with emotional stories in news and entertainment venues that prompt purchasing, mostly dependent upon clinical communication with physicians acting as gatekeepers to products, and likely failing to enhance genetic literacy (McBride, Wade, & Kaphingst, 2010). These experiences foreshadow the challenges health communicators face in an era of genomic health care, as new products coincide with new science, but efforts to guide informed decision-making lag behind.

Clinical Communication with Physicians and Genetic Counselors

Clinical communication affords the opportunity for many individuals to gain understanding of personal risk associated with heredity, make screening decisions, and share the knowledge with others affected, including biological family members and reproductive partners (Feero & Green, 2011). The primary aims associated with clinicians’ communication about genetics thus form around guiding informed decisions about genetic testing and aiding awareness about how family history, personal behaviors, and environments align with the likelihood of expression for a genetic contributor linked to a health condition. Clinical communication about genes, health, and risk was shaped during the 20th century around discourse linked to single gene disorders. The focus of clinicians, including physicians and genetic counselors, traditionally addressed Mendelian disorders relating to the parents, each of whom contribute one of two possible alleles—genetic versions—for a given genetic trait.

Genetic science underlying the evolution in clinical communication about genetics uses expressions such as “single gene disorders,” “chromosomal,” and “polygenic.” Chromosomal abnormalities affect the composition of the typical 23 human chromosomes and occur in several forms including deletion, duplication, and translocation. Multifactorial, also called polygenic or complex, disorders are distinguished by the interaction between the resulting genetic mutation and the environment. Clinicians may be challenged to make accurate diagnoses related to genetics because patients cannot disclose what they do not understand. Uncertainty comprises a highly heuristic explanatory framework to describe clinical communication about genetics, health, and risk. Uncertainty encompasses the patient’s lack of information about genes and genetic testing, the seriousness and diagnosis of genetic conditions, and ambiguity concerning when and how genes express themselves in disease, what treatment exists for genetic conditions, and how the disease will progress.

The continuum associated with realms of uncertainty relates to a patient’s level of genetic literacy. Genetic illiteracy relates to decreased knowledge and subsequent failure to comprehend genetic information (Petrucelli, Walker, & Schorry, 1998). This forms a barrier to clinical communication, as patients may fail to understand physician diagnosis and treatment recommendations (Jallinoja & Aro, 2000). Patients may not reveal a lack of understanding because genetic illiteracy leads to failure to recognize their own lack of understanding and/or embarrassment related to not understanding. Genetic illiteracy also poses challenges to navigating a health care system of referrals linked to more specialized care for genetic conditions. The complexity may be compounded by the volume of information from multiple providers. The clarity of the information may also be more difficult to address due to specialized vocabularies forming around the framework for genetics and decision-making.

Genetic illiteracy also invokes feelings of fear related to clinical communication, with higher levels of genetic illiteracy causing a sense of being out of control and the action tendency to escape and seek protection. In the absence of confidence and skills to understand genetic information, fear may contribute to avoidance of information and care. Fear of a diagnosis is oftentimes a barrier to seeking care, resulting in delayed diagnosis, and worse prognosis across numerous health domains. Genetic illiteracy may also lead to feelings of guilt and a loss of feelings of hope and/or optimism. When genetic illiteracy decreases the possibility of achieving positive health status, feeling less hopeful and more pessimistic about the future becomes likely. Hope is a positive emotion aligned with thoughts about how something links to future goals. Good health comprises an important goal for most, and genetic information should link to thoughts about achieving that aim.

Genetic illiteracy decreases feelings of goal congruence between genetic information and well-being, and creates a negative vision of the future. These consequences suggest the significance of clinical communication designed to reduce genetic illiteracy (Wang, Gonzalez, Milliron, Strecher, & Merajver, 2005). Many patients seek out or are referred for genetic counseling for reasons related to health decision-making. Such decision-making traditionally centered on reproductive and parenting decisions about whether to pursue prenatal testing. The increase in understanding of the genetic basis of common conditions, such as cancer and neurological conditions, and the availability and use of genetic testing for these common conditions, has expanded the types of decisions patients make in the context of genetic counseling and/or with physicians’ involvement. However, the research linking genes to health conditions is far from therapeutic in most cases whether dealing with single-gene, chromosomal, or complex conditions.

In a rapidly changing era of genomics, physicians are challenged to keep abreast of new knowledge and developments linked to available testing that may have relevance for their patients (Kelly et al., 2009). Genetic tests are being routinely included in a number of clinical moments, such as pre-operative tests. Knowledge about genetic contributors to health conditions leads physicians to order genetic tests associated with personalized medicine to facilitate diagnosis and tailor treatments for the patient. For example, some adult late onset medical conditions, such as alpha-1 antitrypsin deficiency (AATD), are genetically associated with variable prognosis and complex etiology, and may be diagnosed as a result of testing, including genetic testing, for a broad range of possible conditions. AATD has symptomatology similar to chronic conditions that include hepatitis and chronic obstructive pulmonary disease (Berger, Kapella, & Larson, 2010). Physicians with awareness of AATD and the availability of genetic testing to identify the condition may be motivated to pursue tests for AATD together with tests for other conditions. Patients may be unaware of the genetic test until or unless a positive result leads to AATD as the diagnosis.

Opportunistic risk assessment and disease screening, which is incidental screening and assessment associated with genetic testing for one or more conditions and finding results unrelated to the original reason for testing, presents another situation in which patients may learn that they have the genetic mutations associated with a diagnosis as they prepare for a completely unrelated condition. The scope of opportunities for opportunistic assessment and screening arises primarily from next-generation sequencing, which focuses on the protein coding genes in the genome. Mutations in these genes are more likely to produce severe consequences, which provides evidence to support them as a target for incidental screening and assessment. Little is known about how physicians follow-up with patients who discover genetic information “accidentally” and/or how being symptomatic affects the processing of genetic information.

Gaining new information about a genetic condition is one of the most commonly cited expectations for genetic testing. Genetic testing to screen for contributors to health, whether single-gene, complex, or chromosomal, is often not the optimal option because of individual and familial differences in preferences for information, certainty, and context, together with expectations about feelings associated with a genetic diagnosis and its impact on personal identity. The degree to which patients seek genetic information and the type of information sought thus varies widely. Counseling for genetic testing within a traditional, single-gene disorder setting has long been focused on the family to guide understanding of and decisions related to the presence of genetic mutations. One challenge for clinical communication relating to the application of genetic tests to predict future disease is that for the majority of families, genetic susceptibility is transmitted through many low penetrant genes that interact with environmental factors to increase the risk for disease. Thus, these polymorphisms generally serve as poor screening tools for predicting disease risk within the general population. However, testing for these polymorphisms in individuals with a family history of disease could further refine risk.

Familial clustering of disease typically reflects multifactorial inheritance in which susceptibility is determined by the combined effects of a number of genes interacting with environmental and lifestyle factors. In some families, highly penetrant genetic mutations with a higher likelihood of disease manifestation are transmitted through generations. Breast cancer associated with BRCA1 and BRCA2 gene mutations is an example of inherited susceptibility where the risk is high for disease manifestation (Offit, 2011). In this era of genomics and health care, an emphasis on “family health history” is linguistic and clinical code for efforts to gain clues to prevention, early diagnosis, and/or treatment for common, multifactorial disorders ranging from cancers to diabetes to heart disease. Clinicians’ inability to obtain family history or underestimation of the value of family history, however, leads to an underuse of family health history.

There are often structural barriers to obtaining health histories, with primary care physicians likely to note “lack of time during visit” as a barrier to genetic counseling linked to family history (Acton et al., 2000; Kaplan, Haas, Pérez-Stable, Jarlais, & Gregorich, 2005). Moreover, promoting family health history awareness assumes that individuals have access to their biological “parents of origin” and ignores the many meanings of family. Political, geopolitical, and climate-related events contribute to a growing number of individuals who lack the opportunity to know biological health history. The length of time required to obtain histories also relates to families’ inability to easily recall details about the nature, timing, and outcomes of family member conditions. As a result, even when there is a strong family history present for a condition, many high-risk people who could benefit from a genetic evaluation are missed because the family is unaware of the health history. Prospective parents also rely on family health history awareness to guide clinical communication about prenatal testing.

Family Communication about Health History

Knowing biological familial disease risk may be one of the essential components of proactive health care since the information is helpful for an accurate risk assessment, cost-effective prevention, and risk-reducing management strategies. Most people consider knowledge of family history to be important to their personal health, but few actively collect health information from their relatives to develop a family health history (Peterson, 2005). This suggests that many individuals will know generalities about their family health histories but lack specific information that may be used to guide clinical communication.

Communication between family members about genetics includes making sense of personal risk following diagnosis as well as considering the implications of disclosure to family members. Effective disclosure includes identifying the appropriate amount of information to provide as well as decisions about the location, timing, and message content. Some people feel that disclosing genetic information is the morally correct thing to do, but others feel burdened by genetic information and possible health risks (Rahman et al., 2012). Individuals often feel the need to make sense of their own personal risk and to assess the receptivity of the recipient before disclosing this information to relatives. The desire to protect relatives from potential harm is weighed against the wish to provide them with information that may have important health consequences (Forrest et al., 2003). An individual needs to balance the desire to keep genetic information private with the concomitant ethical imperative to inform blood relatives (Petronio & Gaff, 2010).

Complex issues can arise around when, what, and whom to tell genetic information. Not surprisingly, family members want to determine with whom and under what circumstances they share their thoughts and feelings about a genetic diagnosis and condition. Individuals may be selective about what information they disclose, identifying “family information” such as news of a mutation in the family versus “personal information” such as individual test results (Foster, Eeles, Ardern-Jones, Moynihan, & Watson, 2004). This reflects family members’ desire to control thoughts and feelings, and maintain an identity separate from a genetic diagnosis. The timing of disclosure often relates to a family member’s life stage, including events such as marriage, having children, or needing to take action to prevent disease. Timing also relates to having the right opportunity and the other’s ability to understand, together with the perception that the benefits of telling outweigh the harms. Disclosure of genetic information to children presents a particularly difficult decision for parents, who must balance a desire to protect children for as long as possible with the need to tell them in time for them to make informed decisions (Gallo, Angst, Knafl, Hadley, & Smith, 2005). Moreover, children may express concern about their parents’ future health when informed about parents’ genetic status.

There may be a failure to inform family members about health history due to poor or nonexistent communication patterns within the family and a low sense of responsibility to some individuals. Talk about family health history and disclosure of genetic test results portrays individual needs to foster closeness with some family members and create distance from others. Telling is a potentially lengthy and incremental process, revealing the desire to control the length and content of conversations. Lack of knowledge about genetics also relates to the way family members talk about these issues, as they cannot disclose what they do not understand. Families often reveal a lack of knowledge about genetic transmission, including the concepts of autosomal and sex-linked inheritance. If family members feel incompetent regarding their genetic status, disclosure will be more difficult. Moreover, genetic information threatens self-concept and identity, suggesting that these conversations will have uncomfortable psychological consequences. Older family members may regard such disclosures as too personal or private to share even with other family members. Family stories may need to change in the light of new genetic science; the stories about stroke deaths from depression-era relatives may, for example, be the result of Factor V Leiden mutation that increases thrombosis risk, making for a challenging intergenerational conversation about genetic predisposition for this condition.

Family members often exhibit the belief that there is limited or no personal control over the likelihood in getting a genetic condition, and they may worry about discrimination and stigma linked to genetic status (Klitzman, 2010). Worry and fear about discrimination motivates many to seek testing online from direct-to-consumer advertisements (DTCA) sources rather than go to a clinic and even to make personal reproductive choices to limit family. Realms of genetic discrimination that impede family communication include worries about loss of health and life insurance, as well as employment, in addition to concerns about others’ perceptions in social and personal realms (Parrott, Silk, Dillow, Krieger, Harris, & Condit, 2005). Individuals diagnosed with genetic mutations reveal expectations for and experiences with insurance discrimination for themselves and related family members. Worry about discrimination leads individuals to avoid disclosing their diagnosis to insurance providers and even spouses (Peterson, 2005). Individuals diagnosed with a genetic mutation may desire to conceal this information from family members based on perceptions of the risk of vulnerability if private information is too widely disseminated (Petronio, 2013). Testing cannot reveal whether a person will or will not develop symptoms; there is concern, however, when testing asymptomatic individuals that positive test results will cause structural discrimination and negative feelings such as anxiety, guilt, and fear. These stigma-related costs may be salient concerns that people are not willing to risk, thus avoiding disclosure of positive genetic testing results to family members.

When information is shared with family during the immediate communication following diagnosis, the focus is less on the genetic risk of the family member being informed and more on the health implications for the diagnosed individual. Family communication about genetic diagnosis as a long-term process primarily follows established patterns of communication within the family. Intergenerational communication can be complex or difficult, and may result in misunderstandings or reinforce generational stereotypes. Family intergenerational communication about health histories may function to meet affective and instrumental needs of various family members or lead to the avoidance of important topics as a coping strategy to reduce stress or worry for family members. The tendency toward self-concealment may increase the incidence of stress, anxiety, psychological uneasiness, and poor physical health for the concealer. Even when there is a strong family history present for a condition, many high-risk people who could benefit from a genetic evaluation are missed because the family is unaware of the health history or hope that their younger relatives will be luckier in this new era of medicine.

As observed in relation to clinical communication about genetics, family communication about genetics and genomics often arouses negative emotions, including anxiety about what one’s genes might mean, one’s future well-being, and one’s sense of identity. Family members may feel: fear about a dystopian future in which they will be judged and categorized based on their genes, distress when learning about an increased genetic risk, guilt about actions and inactions that have increased risk, anger and frustration over not being able to control one’s genes and the effects that they have, and sadness over the loss of possible futures due to one’s genes. Communication that emphasizes the importance of family awareness as a process of helping family members make voluntary informed decisions about individual health may reduce these concerns and increase disclosures. Genetic illiteracy, however, may decrease family members’ efforts to assist other family members’ informed choices about genetic testing. The process by which an individual arrives at a decision about genetic testing depends on access to all necessary information about family history, a reality that reifies the importance of family health history awareness that encompasses knowledge about genetic and environmental inputs.

Public Health Campaigns Promoting Family History Communication and Online Genetics Resources

Genetic illiteracy brings an economic toll linked to possible preventable and treatable morbidity, creating tremendous cost for health care systems around the world. In the absence of the public’s understanding of the roles that environments have regarding genetic expression, as well as prevention and care, needless illness and injury occur, contributing to unwarranted financial outputs. Within organizations as well, the expense for employers associated with workers’ low levels of genetic literacy carries into lost workdays for illnesses that might have been prevented. Families shoulder greater health care costs due to a lack of awareness relating to how to access and use genetic information and social resources to support prevention. These realities contribute to strategic public health and organizational efforts to increase the public’s understanding and skills related to communicating about genetics, health, and risk.

As previously noted, when there is a strong family history present for a condition, many high-risk people who could benefit from a genetic evaluation are missed because the family is unaware of the health history, leading to strategic public health communication initiatives. In 2004, the US Surgeon General established the Family Health Initiative to promote the importance of knowing family health history. This program uses an online tool to guide communication about family health history and awareness of what information to collect from what relatives. To protect the privacy of individual users, personal information about family health history resides on the user’s computer only. This program, called “My Family Health Portrait,” organizes family health history information so that it can be printed and taken to physicians. It has been utilized by millions of users with many print copies distributed in addition to online use.

The online “My Family Health Portrait” tool’s popularity foretells the role that strategic communication associated with numerous sites has for individuals wanting to gain understanding about family health history and how to communicate about genetics. Individuals and families may use online resources to obtain genetics related information. Internet health information sites about human genetics and human genetic research should be designed to convey scientific knowledge to lay audiences about advances in clinical genetics and biotechnology, not present an inaccurate picture of genetic testing that could impact an individual’s ability to make an informed choice (Singleton, Erby, Foisie, & Kaphingst, 2012; Taylor, Alman, & Manchester, 2001). Family members may seek such information prior to a clinical visit out of general interest or in response to a physician’s recommendation. These resources may be used to obtain genetics information in language that can be understood and to explore information about treatment (Lachance, Erby, Ford, Allen, & Kaphingst, 2010). Online resources also afford one strategy for individuals to extend their understanding about the role of genes for health and risk when the news presents them with information that requires clarification or extension, or to satisfy curiosity and/or involvement with a media story.

The goals of providing online genetic information to increase the lay public’s ability to understand the role of genes for health and risk, and the availability of genetic services and testing may be reflected in their informed consent, informed choice, and shared decision-making. This requires intention and effort to be accurate, side-by-side with intention and care to avoid partial information or over-emphasis in the content. Online sites relating genes to health may suggest the availability and use of genetic technologies and gene therapies for genetic enhancement beyond the actual availability and efficacy of these approaches. Internet sites associated with genetics and health information may also create ambiguity around the state of interventions available as responses to genetic conditions. Thus, in addition to obtaining information about genetic conditions in “layperson’s terms,” online searches for genetic information may be motivated by or lead to overly optimistic expectations about the availability and efficacy of genetic tests and therapies. In contrast, the medical resources may highlight the worst case scenarios, making people feel helpless to avoid that possible future.

Online resources associated with genetics and health frequently include guidelines to form understanding about the probability of inheriting a genetic condition. Research that examines science and health literacy has long identified deficits in numeracy, the ability to do math, as a contributor to poor understanding of probabilistic information for both clinicians and patients (Gigerenzer, Gaissmaier, Milcke-Kurz, Schwartz, & Woloshin, 2008; Peters, Hibbard, Slovic, & Dieckmann, 2007). Math competence enriches the meaning and importance of math in contributing to science, health, and genetic literacy by conceptualizing competence in terms of math anxiety, math self-efficacy, and numeracy (Silk & Parrott, 2014). Exposure to messages that include probabilities may increase math anxiety—comprised of worry and concern when facing a math task—and decrease comprehension of a risk message. Online genetic resources may represent genetic risk and probabilities through visual forms such as risk ladders. When the visual form presents a simple bivariate relationship in a bar graph, such as risk for heart disease doubles for individuals diagnosed with a specific genetic variation, audiences may more easily comprehend the meaning as compared to the text that provides the same information (Parrott, Silk, Dorgan, Condit, & Harris, 2005). Online efforts to communicate genetic risk and probabilities may thus afford effective ways of presenting genetic and genomic information about nature and nurture, avoiding the use of metaphors and enhancing genetic and science literacy.

The U.S. efforts to promote family history awareness facilitates access to specific advice about what information to collect when communicating about family health history, but the program faces two challenges. First, messages to promote the program encourage family members to talk about health history on Thanksgiving as families gather together. This recommendation ignores the reality that stereotypes associated with the elderly may include that they too often talk about their health. With little thought given to stereotypes associated with aging, promoting these conversations at annual Thanksgiving gatherings may reduce the likelihood that the conversations will take place. Additionally, the program depends on access to computers and the ability to use, as well as trust, the technology. Addressing possible limitations of the “My Family Health Portrait” tool to reach audiences that may not use the online resource, community-based initiatives have emerged in the United States.

Among the U.S. programs is one involving a partnership between the genetic counseling program at the University of Cincinnati, Ohio State’s Health Literacy Program, Sinclair College’s Appalachian Outreach Studies Program, and a number of local community organizations. These include community centers, schools, and volunteer organizations. Based on qualitative health research and the analysis of focus groups, low literacy materials were developed to promote family health history awareness. A second project focuses on increasing awareness of family health history among project staff at an Alaskan Native healthcare facility. This reinforces the importance of reaching healthcare providers with knowledge about the importance of family health history and strategies to increase success in collecting this information. The Centers for Disease Control and Prevention in the United States has also funded several state health departments to encourage the inclusion of genomic information in disease prevention efforts. Utah, for example, developed a multimedia project called “Make Family Health History a Tradition,” which was designed to enhance public awareness focused on the importance of communicating about family health history.

Other organizations also developed initiatives to promote communicating about family health history in families. Two nonprofit organizations, “Genetic Alliance” and “The American Society of Human Genetics,” partnered to design tools for families and for healthcare providers as part of the Talk Health History campaign. A project conducted in the Washington, DC, area utilized public service announcements to encourage people to know their family health history. The campaign emphasized eye and hair color as examples to illustrate the meaning of genetics and inheritance; a tree symbolized family history. These verbal and visual metaphors may help to increase memorability of the message. Focusing on Native American tribes in Michigan, the American Cancer Society provided funding to develop materials that frame the message about family health history awareness within tribal culture and traditions and to train tribal clinic providers to collect family health history information.

Community-based initiatives demonstrate strategic communication efforts to reach the public with the message to know family health history. At the same time, these programs may contribute to genetic essentialism. Family health history includes environments, but communication about nutrition and activity levels may be absent in the emphasis on family members’ health status. The poorest neighborhoods may have the highest levels of physical inactivity, as privilege extends to diet and exercise (Pascual et al., 2013). Societal resources applied to promoting family health history awareness reduce the availability of resources to build safe environments that support exercise. The refrain to consider family health history within cultural frameworks intersects with community genetics and public health genomics initiatives in which epidemiological evidence associated with a “community” may lead to broad-based screening initiatives. In nations with resources, including health care at the societal level, and health insurance and education at the individual level, affected groups may organize and advocate to attain resources and care, and/or to limit risk linked to genes.

As has been reviewed, scientific advances in genetic mapping and genetic testing, even in efforts to promote family history awareness, are often portrayed in the media and in our discourse as presenting significant risks, which engenders fear. Strategic communication about family health history, genetics, and genomics could appeal to positive emotions, such as hope, a discrete emotion that may be evoked by a novel and relevant stimulus, such as a message about genetic testing. The appraisals that cause hope include goal congruence, possibility, importance, and future expectation to create perception of opportunity, motivating people to engage in behavior that helps them achieve the desired future outcome (Chadwick, 2015). Hope appeals to promote knowing your family health history might thus shift how we talk about genetics and genomics in social discourse as well as directly influence behavior and appraisals of situations. Appeals to hope could be used in strategic communication to create a vision for an important and desirable future related to the audience’s goals and values that is possible to achieve. Thus, instead of creating a problem-focused, dystopian vision of the future like much genetic and genomic communication does, appeals to hope create an opportunity-focused vision that builds excitement and enthusiasm for genomic science without being deterministic or fatalistic.

An increase in strategic communication that evokes hope related to genomics can help shift discourse away from a focus on risk and anxiety to a more balanced discourse that acknowledges risks and identifies positive benefits of genomics and genetic testing for creating a better future. Allowing for positive outcomes even when one has a gene that is linked to disease may thus avoid contributing to genetic essentialism. In addition, appeals to hope can encourage genetic testing (when appropriate), influence behavior change that limits genetic expression in situations where personal actions increase risk associated with genetic susceptibility, and help frame the implications of the results of genetic tests. Many people find referral for genetic testing to be a positive step and experience positive emotions alongside negative ones when they are awaiting information about their genetic risk (Phelps, Bennett, & Brain, 2008). One of the great challenges for health communicators in the 21st century will be efforts to balance communication in ways that strategically accommodate existing levels of genetic illiteracy while advocating for programs to alleviate genetic illiteracy.

Public Policy Pathways to Attitudes about Genetics and Access to Care