Future Forecasting for Research and Practice in Genetic Literacy

Information generated by genomic discoveries is increasingly accessible in clinical, public health, and direct-to-consumer contexts, reaching broader segments of the population than with traditional genetic services models [1]. With this expansion has come a recognition of the critical importance of communicating about genetics and genomics in ways that support access to, decisions about, and utilization of genetic information. Individuals’ genetics-related knowledge and skills, or their “genetic literacy,” are critical to the reach and effective utilization of genomic technologies [2‒5]. The importance of genetic literacy is further heightened in public health contexts as individuals may access and use genomic technologies without a learned intermediary such as a genetics provider. However, available evidence highlights important gaps in genetic literacy throughout the population, limiting the potential use of these technologies to improve the health of individuals, their families, and their communities. Effective communication approaches are needed to meet the needs of individuals with varying levels of genetic literacy and from different communities. To achieve this goal, this piece highlights essential areas of research and practice in genetic literacy that is needed to inform public health translation of genomic discoveries in ways that are effective and equitable.

In order to more effectively translate genomic discoveries into public health contexts, research is essential to investigate genetic literacy and how it impacts the reach and utilization of genomic information. This section outlines four related areas for future research in genetic literacy: defining genetic literacy, measuring genetic literacy, examining how genetic literacy impacts information processing and downstream health outcomes, and developing genetic literacy interventions.

As a foundational step for the area of genetic literacy, a combination of conceptual and empirical work is required to develop a consensus definition. Interest in how genetic literacy impacts understanding and use of genetic and genomic information in clinical and public health contexts has been growing, particularly in the past few years [2]. However, definitions and operationalizations of this construct in the research literature have varied widely. Some definitions include domains of both genetics-related knowledge and cognitive skills (e.g., information processing, decision-making) [3], while others focus only on knowledge of selected genetic or genomic concepts [6]. In addition, although the term “genetic literacy” is most commonly used, the terms “genetics” and “genomics” have been used interchangeably in the prior literature to describe this construct or its component domains without clear definitions or explanations. This lack of clarity hampers the ability to advance this area of research. Variability in how genetic literacy is conceptualized can lead to inconsistencies in conceptual frameworks of how the construct affects accessing and processing genomic information as well as more distal health outcomes.

Future conceptual work can build upon the genetic literacy literature base to date. In a recent scoping review of 89 empirical research articles that included an assessment of genetic literacy, we found numerous definitions of the construct across 34 (38%) of the articles [2]. Many of the definitions conceptualized genetic literacy as being comprised of multiple domains, the most common of which were conceptual knowledge about genetics and/or genomics, comprehension of genetic information, and application of genetic information to personal situations such as decisions about clinical care. Less commonly, other definitions included the skill domains of applying genetic information to societal or professional contexts or print skills related to genetic information. Based on the findings of the scoping review and our review of related areas of literacy (e.g., health literacy, media literacy), we proposed a consensus definition of genetic literacy: “sufficient knowledge and understanding of genetic information to allow for effective communication and application of learned information and informed decision-making in personal, societal, and professional contexts” [2].

In order to refine this definition, further conceptual work in this area could include an analysis of theories of information processing and information seeking to illuminate key domains in how people access, understand, and use risk information [7]. In addition, future empirical studies can build the evidence base needed to identify the domains of genetics- and genomics-related skills and knowledge most essential for reach and utilization of genomic information in public health and clinical contexts. Future studies could investigate how different domains of genetic knowledge [8] relate to use of genomic information. However, our prior analysis of genetic literacy definitions [2] has shown that it is important in future work not to use “literacy” and “knowledge” as synonyms in the genetics context. Empirical studies should carefully consider cognitive skill domains of information processing, communication, and application in addition to knowledge. Investigations of the associations between different domains of genetics- and genomics-related knowledge and skills and proximal (i.e., seeking, accessing, and processing information) and distal health outcomes are essential to define what domains are needed in a definition of genetic literacy [9]. Workshops of stakeholders, including researchers, practitioners, and patient and community stakeholders, could advance a definition of genetic literacy based on these findings. This future work could also define levels of knowledge and skills needed to be “genetically literate,” able to apply genetic information in various personal, clinical, and societal contexts.

Furthermore, future conceptual work is needed to differentiate genetic literacy from related concepts such as health literacy (i.e., degree to which individuals have the ability to find, understand, and use information and services to inform health-related decisions and actions for themselves and others) [10], and numeracy (i.e., degree to which individuals have the capacity to access, process, interpret, communicate, and act on numerical, quantitative, graphical, biostatistical, and probabilistic health information needed to make effective health decisions) [11]. In a scoping review of 513 articles focused on cancer genetic communication between 2010 and 2017, we found that numeracy and health literacy were more commonly described (4% and 2% of articles, respectively) than genetic literacy (1% of articles), but research on any of these constructs was limited [4]. This is an important gap because our prior work has demonstrated that genetic literacy, health literacy, and numeracy are all critical to the reach and utilization of genetic and genomic information [12]. In a study among 145 English- or Spanish-speaking adult primary care patients enrolled in a trial that offered genetic testing for variants that confer moderately increased melanoma risk, we found that patients with limited health literacy were more likely to report confusion about their genetic test results. In addition, health literacy interacted with level of melanoma risk in affecting cognitive elaboration about the results [13]. We have also shown that preferences for numeric information (vs. words) affects interest in learning different types of test results from genome sequencing among women diagnosed with breast cancer at a young age [14], as well as how much information patients would want about those test results [15]. Our recent survey research indicated that commonly used measures of health literacy, numeracy, and genetic literacy are only weakly to moderately related [2]. These findings together suggest that these are distinct constructs, highlighting the need for greater clarity in our understanding of how different literacy and numeracy constructs (e.g., genetic literacy, health literacy, numeracy, graph literacy, oral literacy) contribute to the reach and utilization of genomic technologies.

Concomitant with the need to develop a consensus definition of genetic literacy is the need for better measurement of the construct in future research. Our prior scoping review showed clearly that there is a mismatch between how genetic literacy is defined and how it is measured. While definitions of genetic literacy have commonly included domains of comprehension and applied knowledge, the measures used overwhelmingly have been either an objective test of conceptual knowledge about genetics or genomics (e.g., multiple-choice or true/false tests about genetics facts) or self-reported level of knowledge [2]. With few exceptions [16], the measures have not assessed skills related to understanding, interpreting, or utilizing genetic information. In addition, the areas of conceptual knowledge assessed by these measures varied widely, with little rationale for the selection of facts assessed [2]. Measures have included domains such as knowledge of the basics of DNA structure and function, patterns of heredity, genetic technologies, genetic mutations, gene-environment interactions, family health history, and genetic laws, privacy, and ethics [2].

Future measurement approaches should be based on a consensus of what domains of genetics-related knowledge are essential to assess as a component of genetic literacy and whether to assess cognitive skills as part of a measure. In addition, work to strengthen the psychometric properties of measures of genetic literacy is essential. Future research could consider types of validity beyond face validity as well as reliability. The literature would also benefit from clearly describing adaptations to measures, as well as the reliability and validity of the adapted measures [2]. In order to advance public health translation of genomic discoveries, development and validation of a reliable measure of genetic literacy that is consistent with a consensus definition and can be utilized across modes of administration is needed. Such a measure would allow an examination of the impact of genetic literacy on health outcomes and ensure equity in health outcomes across levels of genetic literacy.

Our research and that of others to date has shown that genetic literacy impacts how individuals access, understand, and use genetic information. However, a consistent definition and reliable and valid assessment of genetic literacy will allow a better understanding of how genetic literacy impacts the reach, utilization, and impact of genomic information in different contexts. Questions of reach are essential to the successful public health translation of genomic information, particularly since disparities in access to genetic technologies by race and ethnicity have been well documented [17]. Despite the likely impact of genetic literacy on how individuals access genetic information and technologies in public health contexts, this issue is largely unexplored. As a few examples for future research, genetic literacy may affect how individuals learn about genomic technologies, communicate about these technologies with providers or community leaders, and access genomic information and services through clinical and public health contexts. In addition to disparities in reach, inequities have also been shown to be present in whether and how individuals utilize genetic and genomic information and technologies if offered. Possible associations between genetic literacy and utilization are important to investigate, as are associations between genetic literacy and other related variables that may affect decisions about utilization, such as medical mistrust. Finally, genetic literacy likely affects how individuals process and respond to genomic information [13]. Genetic literacy may also then affect how they apply the information when making decisions about risk management for themselves and their families (e.g., screenings, medications, surgeries). However, research in this space is limited. Expanding our understanding of how genetic literacy acts in these pathways is essential to equitable translation of genomic discoveries.

Future research is also needed to develop intervention approaches to address the communication and information needs of individuals with a range of genetic literacy levels. Little prior research has explored genetic literacy interventions. Drawing on the intervention literature in related areas, such as health literacy, can provide valuable approaches to test in the genetics context. For example, a genetic counseling intervention developed to meet the communication needs of patients with low health literacy [18] might also effectively meet the needs of individuals with lower genetic literacy. Clear communication and plain language approaches could assist in the development of communication interventions that meet the needs of individuals with a range of genetic literacy levels [13, 19]. Health information technology approaches that address best practices for multimedia learning are also a potentially fruitful approach. Information technologies such as websites and conversational agents (i.e., chatbots) can support structuring genetic information so that individuals have access to the most important information they need when they need it. These approaches can also incorporate interactivity to support information processing and learning [13, 20, 21]. Health information technology approaches have begun to be explored in the genetics context, but more research is needed. As public health translation of genomic information continues, individuals will increasingly access and utilize this information without a learned intermediary such as a genetic counselor [22]. This heightens the importance of developing effective approaches to communicate genomic information to individuals with a range of genetic literacy levels.

Genetic literacy considerations will also impact practice in both clinical and public health contexts as this information is increasingly translated through population screening and other population-based approaches. This section outlines three areas in which genetic literacy may impact practice: assessment of genetic literacy in populations, co-creation of communication approaches, and involvement of patient and community stakeholders with varying genetic literacy levels.

Assessing the genetic literacy of national, state, and community populations is important to inform public health translation of genomic discoveries. Prior large surveys have demonstrated important knowledge gaps related to genetics in the general public [5]. These studies have also illuminated disparities in knowledge about genetics by sociodemographic factors such as age, race, and ethnicity [12, 23]. However, the knowledge items evaluated in these studies have not generally been selected based on a conceptual framework of genetics-related knowledge needed for accessing, processing, understanding, and/or applying genetic information. In addition, few data are available to describe levels of genetics-related skills in the public. Therefore, future assessment of levels of genetic literacy in the public are needed. As part of these assessments, items should be selected purposively to measure genetics-related knowledge and skills based on the consensus definition of what domains are most important to downstream health outcomes. Item selection should also involve stakeholder input from users such as patients, family members, and community members, rather than input only from clinical and research stakeholders. Data from such large-scale assessments are critical to inform communication efforts to address the informational needs of a population in ways that are appropriate for the genetic literacy of the users and do not exacerbate disparities in access to genomic discoveries. Future longitudinal assessments of genetic literacy over time would also allow the evaluation of how communities are impacted by the public health translation of genomic technologies.

The importance of involving end users in the initial creation and subsequent development process of communication approaches is recognized by patient education and health communication practitioners across a range of health contexts. However, user-centered design and co-creation of communication approach that include patients and/or community members as partners throughout is still new in the context of genetics [24]. Involvement of end users such as community members and patients in future practice-based work can utilize a variety of methods such as focus groups, in-depth interviews, and surveys. These methods can inform choices about educational content to include, format and design, and language. Co-creation of genomic communications has the strong advantage that the information is more likely to meet the needs of users. Involving users with a range of genetic literacy levels as partners would also help ensure that the information developed is suitable for individuals with limited genetic literacy and those with higher genetic literacy. Co-creation processes can also be important in culturally tailoring genomic information to meet the meets of different communities, and allow the consideration of the interaction of genetic literacy, language, and culture.

Throughout the different phases of public health translation of genomic information, the involvement of patient and community stakeholders is key. As described in the preceding section, these stakeholders can be important partners in the co-creation of communication approaches. More broadly, however, the input and partnership of community, patient, and family stakeholders who have varying levels of genetic literacy are critically needed in: making decisions about when genomic technologies are offered to the public; how members of communities can equitably access such technologies; and development of policies that support individuals in utilizing genomic information to improve the health of themselves, their families, and their communities. Public deliberation processes can benefit by ensuring that participating community stakeholders represent those with a range of genetic literacy levels, and not only those who are highly genetically literate.

Interest in genetic literacy is rapidly expanding, leading to a recognition of the critical importance of this construct in public health translation of genomic technologies. Future developments in research and practice are essential in the area of genetic literacy, however, in order to advance the goals of public health translation. This paper proposes areas of future research and practice that will allow us to further define and meaningfully assess genetic literacy in populations, investigate how genetic literacy impacts accessing, processing, and utilizing genomic information, and determine how to meet the communication and information needs of various stakeholders. Inclusion of community and patient stakeholders with varying levels of genetic literacy in research, practice, and policy decisions will be critical to translating genomic discoveries in ways that are effective and equitable in improving the health of individuals and their communities.

The author has no conflicts of interest to declare.

The author (K.A.K.) was supported by the Huntsman Cancer Foundation. The sponsor was not involved in the preparation of the manuscript.

The author conceptualized, prepared, and approved the manuscript.