This study aims to systematically map the existing literature on genomic literacy among nursing faculty, professionals and students, as well as to identify evidence gaps related to this topic.

Based on the available literature, this systematic scoping review addresses the following research questions: (1) What is the extent of the evidence regarding genomic literacy among nursing students and professionals in educational and clinical care settings? (2) What are the evidence gaps regarding genomic literacy in the context of nursing education and practice?

A systematic scoping review was conducted following the Joanna Briggs Institute (JBI) methodology for scoping reviews.17 Given the extensive nature of the topic, a scoping review methodological approach was considered the most suitable, particularly for its ability to provide an overview of the literature on a specific subject.18 The research report adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) Checklist.19

The PCC (Population/Concept/Context) mnemonic was used to delineate the eligibility criteria.17 Primary studies and systematic reviews were included if they met the following criteria: (a) the target population consisted of nurses, nursing students and/or nursing faculty (P); (b) the studies addressed the concept of ‘genomic literacy’, defined as ‘the capacity to obtain, process, understand and use genomic information for health-related decision-making’8 (C), and (c) the studies were conducted in any healthcare sector or nursing professional education setting, regardless of the country (C). Studies including mixed samples (eg, nurses and other professionals) and providing only aggregated data were excluded. To minimise the potential loss of relevant manuscripts, studies addressing genomic knowledge and/or genomic competence were also considered for inclusion, as these concepts are closely related to genomic literacy. Articles written in languages other than English were excluded, as were those that did not include a qualitative or quantitative assessment of genomic literacy. While systematic reviews were eligible for inclusion, all other forms of literature reviews were excluded.

The electronic search strategy aimed to identify both published and unpublished studies. An initial PubMed search was conducted to retrieve relevant articles and related keywords and MeSH terms related to the topic. These were employed to develop a comprehensive search strategy for electronic databases, including PubMed, CINAHL, Scopus, Web of Science (WOS), Academic Search Premiere and OpenGrey. The search strategy was tailored for each individual database, combining the selected key words with Boolean operators (AND, OR). The complete search strings are reported in online supplemental file S1. No date range was applied as a limit; however, articles in languages other than English were excluded. The initial search was conducted on 22 July 2022, followed by an updated search on 15 November 2023. A second update was performed on 28 May 2025, during the manuscript revision process. To increase the number of potentially relevant studies, a bidirectional citation search of the included papers was conducted on Scopus.20

The screening of titles and abstracts, along with the examination of full texts and data extraction, was independently conducted by two researchers. Any discrepancies were resolved through discussion with an additional reviewer. Potentially relevant sources were retrieved in full text through the University Library System, with support from university librarians, and by directly contacting the authors.

References were collected and managed using EndNote 21.5 software.

Data were extracted using a Microsoft Excel data extraction worksheet previously developed and tested by researchers. Extracted information included first author, publication year, country, setting, aims, study design, population, number of participants, data collection tools, outcomes and main findings. If included, details on educational interventions were also extracted and organised within the framework provided by the Guideline for Reporting Evidence-based practice Educational interventions and Teaching (GREET) specifically written to provide a consistent and transparent reporting for evidence-based educational interventions.21

In this context, the following data were extracted: aim/s, description, underlying theory, learning objective, evidence-based practice content, materials, educational strategies, incentives, instructors, delivery method, environment, schedule, planned/unplanned changes, attendance facilitation, participation rate, compliance with planned material and educational strategies, and compliance with schedule.

Data were presented in tabular form or graphically through bubble plots, pie charts and bar charts. Additionally, a narrative summary was provided.

With regard to outcomes, only those strictly related to the concept of genomic literacy were considered. In this context, outcomes were organised into five main dimensions: (1) genomic literacy, (2) knowledge (either directly measured or self-reported), (3) competency (using knowledge in practice, being able to perform tasks), (4) application in practice (performing genetic/genomic-related activities) and (5) confidence (self-reported confidence in knowledge or in performing actions, clinical comfort). According to the JBI methodology, no quantitative analysis of results was performed in this scoping review.17 While such an analysis was not required, it was also not feasible due to the heterogeneity of outcome measures. To provide a meaningful comparison and summary of the retrieved evidence, comparable elements were extracted from the included studies, relying on the original authors’ assessments of their outcomes (eg, high, low, moderate or gain/loss) to ensure consistency across studies. The sources of evidence included in this scoping review were not assessed for the risk of bias or methodological quality, following current recommendations.17 18

As this study does not involve participant enrolment, ethical approval was not required. The review protocol has been published.22

The main characteristics of the included studies are summarised in online supplemental file S3. The papers were published between 2001 and 2025. Remarkably, half of these studies were conducted after 2018, indicating a notable increase in publications in recent years (figure 3a). Geographically, most of the studies originated from the USA (n=26, 41.3%),12 13 26–28 31–35 38 44 51 52 56 57 62 64–68 75 76 78 79 though contributions from various other countries are also represented, as shown in figure 3b.

Of the included studies, 29 (46.0%) explored multiple objectives,6 12 15 23–25 27 28 30 31 35 36 39 40 42 43 50 56 58 59 61 65 67 73 75 77–80 typically focusing on assessing genomic literacy in relation to other outcomes, such as educational needs or the integration of genomics into practice, education and research. A notable proportion of studies (n=14; 22.2%) exclusively explored genomic literacy, genetic knowledge or genomic competency.13 14 33 37 48 49 53–55 63 70–72 74 Similarly, another 20.6% (n=13) focused exclusively on investigating the effectiveness of teaching strategies to enhance genomic literacy.26 29 34 38 44–47 51 52 62 68 76 Detailed information about study aims is provided in online supplemental file S4.

In terms of study populations, 50.8% of the articles (n=32) focused on clinical nurses,5 14 15 24 25 27–29 31 36 38 40–42 45 46 49 54 56 58–61 63 69–74 77 78 encompassing a total of 18 157 participants (range=6–8150). Another 31.7% of the studies (n=20) examined students,6 23 32 34 39 43 47 48 50 51 53 55 62 64–68 75 79 with a total of 5499 participants (range=27–1002). Additionally, 4.7% of the articles (n=3) targeted faculty members,12 13 76 involving 538 participants (range=13–495). The remaining 12.7% of the studies (n=8) included diverse participant groups, such as combinations of faculty and students33 35 37 52 57 or students and clinical nurses,30 80 and one on nurse leaders.44

Participants were predominantly enrolled in educational settings (n=30; 47.6%)6 12 13 23 27 32–35 37 39 43 47 48 50–53 55 57 62 64–68 75 76 79 80 or clinical settings (n=29; 46.0%),14 15 24–26 29 31 36 38 40–42 44–46 49 54 56 58 59 61 63 69 70 72–74 77 78 with most studies employing an observational design (n=44; 69.8%)6 12–15 23 25 27 30–33 35–40 42–44 47–50 53–56 58 61 63 65–67 70–74 77–80 or a before-and-after study design (n=9; 14.3%).26 29 34 45 51 52 62 68 76 Comprehensive details on population characteristics, study settings and design methodologies are provided in online supplemental file S5.

Most data collection tools used in the included studies were ad hoc instruments (n=29; 46.0%)12 23–25 31 34 36 42 43 45–51 56 58 59 61 62 68 72–77 80 specifically developed to meet the unique objectives of each study. Additional data collection methods included interviews64 69 and focus groups.41 Among the validated quantitative tools, the most frequently used was the ‘Genomics in Nursing Concept Inventory’ (n=19; 30.2%),6 13 14 30 33 37–40 52 53 55 57 65–67 70 78 79 as shown in figure 3c.

14 studies (22.2%) investigated the effectiveness of educational interventions5 29 34 38 44–47 51 52 62 68 76 80 which exhibited considerable heterogeneity in their reporting according to the GREET guidelines (online supplemental file S6a, b). The target populations included clinical nurses (n=5),26 29 38 45 46 nursing students (n=5),34 47 51 62 68 nurse leaders (n=1),44 faculty members (n=1)76 and mixed populations (n=2).52 80 The most frequently employed study design to assess the effectiveness of these interventions was the before-and-after design (n=9).26 29 34 45 51 52 62 68 76

Intervention delivery was predominantly online (n=9)26 29 34 38 44 47 52 68 76 either fully or with an online component, with case studies and lectures being the most used educational strategies. The educational content varied across studies; however, some interventions (n=6)34 44 51 52 68 76 incorporated content based on recognised core competencies.2 81 82 Notably, only four articles provided details about the instructors,29 51 68 76 and only one reported information about the physical or virtual spaces where the interventions were conducted.29 Furthermore, no studies included steps related to evidence-based practice in the design or implementation of the interventions. Finally, there was no indication of how authors evaluated whether the interventions adhered to the original plans regarding materials, educational strategies and schedules.

Majority of the studies (n=33; 52.4%)5 12 15 23 27–29 31–34 36 38 41 43 45–48 50 52 54 58 60 63 68 71 73–77 80 investigated two or more categories of outcomes, while others (n=30; 47.6%)6 13 14 24 25 30 35 37 39 40 42 44 49 51 53 55–57 59 61 62 64–67 69 70 72 78 79 focused exclusively on a single category of outcomes, such as genomic literacy, knowledge, competency, application in practice, or confidence. Knowledge was the most frequently investigated outcome category, followed by confidence. Competency was addressed in only a minority of the studies (online supplemental file S3).

The time distribution of the included studies highlights a growing interest in genomic literacy in recent years. This reflects how new knowledge about the human genome, driven by significant technological advancements, has been gradually integrated into clinical practice,1 thereby necessitating specific knowledge and skills from nurses.5 6 Consequently, nursing researchers are increasingly focusing their attention on this topic, supported by the efforts of international associations like the G2NA, which aim to facilitate the integration of these advancements into nursing practice.10

At the forefront of this research field is the USA (just over 40.0%). This geographic concentration should be taken into account when considering the generalisability of findings across diverse healthcare systems and educational contexts. While some European countries have contributed to the literature, they remain under-represented6 24 39 40 42 55 60 and studies from low- and middle-income countries are particularly scarce. Notably, recent research has highlighted substantial regional disparities in genomic literacy. For example, Parviainen et al55 reported significantly lower literacy scores among Finnish nursing students compared with their Filipino counterparts, and Alloubani et al14 documented alarmingly low levels among nurses in Jordan. These findings underscore the influence of local context, access to genomic education, and national healthcare infrastructures in shaping literacy outcomes. To promote equitable progress in genomic nursing education and practice, further regionally tailored studies and interventions are urgently needed.

Regarding the investigated population, merely three studies focused on faculty33 57 76 and only one aimed at enhancing the ability of nursing faculty to teach genetics and genomics.76 However, given the low level of genomic literacy among faculty and their crucial role in transmitting knowledge, it is imperative to prioritise investment in their education. This would facilitate the creation of a virtuous cycle wherein the learning trajectory of students enhances its consistency, as advancements in practice generated by genomics would already be integrated into theoretical teachings. Most of the educational interventions documented in this review were conducted in online environments, not directly related to clinical practice. To bridge the gap between theory and practice and facilitate the anticipated integration of genomics into nursing clinical practice, these educational models should be complemented with activities specifically tied to clinical practice.

Concerning the research designs employed in the included studies, the results highlight the need for study designs that provide higher levels of evidence, such as randomised controlled trials, especially for those aimed at investigating the effectiveness of educational interventions in promoting genomic literacy. In fact, most of the studies were observational in design, and those encompassing an educational intervention were designed with a before-and-after approach.26 29 34 45–47 51 52 62 68 Furthermore, when investigating genomic literacy, the use of validated evaluation tools should be prioritised over ad hoc instruments. Indeed, nearly half of authors used ad hoc instruments in their studies.12 23–25 31 34 36 42 43 45–51 56 58 59 61 62 68 72–77 80 Although this could be expected, given the recent and rapid development of genomic nursing, this poses challenges for comparing results, obtaining a clear picture of available evidence and establishing valid, reliable and generalisable measures of the phenomenon. In this context, using ad hoc instruments could entail the risk of not accurately or comprehensively measuring the phenomenon of interest, whereas validated tools are designed to mitigate this risk. Furthermore, ad hoc tools may exacerbate the risk of fragmenting the broad concept of genomic literacy into its various dimensions.

The findings from the included studies reveal a widespread low level of genomic literacy among clinical nurses, students and faculty. This result was also observed in other outcomes encompassed within the definition of genomic literacy, including knowledge, competency, application in practice and confidence. To address these gaps, educational interventions have been implemented to enhance knowledge.26 29 34 45–47 62 68 76 While these interventions have demonstrated effectiveness in improving knowledge, their impact on fostering professional practice and competencies has been limited, with minimal or no observable improvements.26 29 34 51 It is crucial to interpret these results in the context of the heterogeneity observed among educational interventions, which vary in aims, content, materials and methodologies. To establish a robust baseline of knowledge necessary for sustaining nursing activities, it would be beneficial to prioritise the standardisation of educational interventions with clear objectives and consistent contents. Additionally, strengthening the reporting of these interventions using tools such as the GREET guidelines would enhance reproducibility and comparability.21 Simultaneously, interventions should aim to support the development of genomic-based competencies and encourage their practical application. This approach would empower clinical nurses in their roles and enable students to enter work environments that foster professional growth and competency development. It is also important to interpret these findings in light of the relative novelty of genomic literacy as a formal component of nursing education and practice. As an emerging discipline, most educational efforts have understandably focused on foundational knowledge rather than advanced competencies or clinical application. This pattern aligns with established educational evaluation models, such as Kirkpatrick’s framework,83 which emphasises that early educational research often concentrates on learner satisfaction and knowledge acquisition before advancing to behavioural and outcome-level evaluations. Furthermore, the current clinical and academic context may not yet be mature enough to support fully integrated genomic practice, as even faculty and clinical nurses often demonstrate limited genomic literacy themselves.30 33 40 57 These contextual factors help explain why few studies have addressed the translation of genomic knowledge into practice, suggesting that the observed limitations may stem not only from study design but also from the broader developmental stage of the field itself.

In this evolving context, the limited effects observed on competency and practice may also be attributed to structural weaknesses in the interventions themselves, many of which are short-term, not embedded into clinical workflows, or lack follow-up strategies to support sustained skill development and practical integration. This is consistent with findings by Alloubani et al,14 who emphasised the importance of implementing longitudinal educational strategies, incorporating genomic literacy into nursing curricula and adopting evidence-based formats such as workshops, case studies and simulations to ensure long-term retention and application of genomic knowledge in clinical practice.

To the authors’ knowledge, this is the first literature review to systematically map evidence on genomic literacy in the nursing field, comprehensively encompassing clinical nurses, nursing faculty and students. A key strength of this work is its adherence to established methodologies, such as the JBI framework and PRISMA-ScR guidelines, ensuring a systematic and transparent approach to conducting and reporting the review.17 19 Additionally, the identification of critical evidence gaps, such as the under-representation of nursing faculty and the limited number of studies from regions outside the USA, provides valuable insights to guide future research and practice. Another strength is the detailed analysis of educational interventions using the GREET framework.21

This evaluation underscores the need for standardised educational models that integrate genomic literacy into clinical practice, a crucial step in bridging the gap between theory and application. The inclusion of studies addressing diverse outcomes, such as knowledge, competency and confidence, offers a nuanced understanding of the current state of genomic literacy in nursing. However, the review also has limitations. The predominance of US-based studies limits the generalisability of findings to regions with different healthcare systems and educational structures. Furthermore, the heterogeneity in study designs, outcomes and methodologies complicates the synthesis and comparison of results. As observed in several of the included studies, a notable issue is the frequent use of ad hoc instruments to measure genomic literacy, which raises concerns about the reliability and comparability of findings. These tools, often developed for specific research purposes, may fail to adequately capture the multidimensional nature of the concept and may introduce variability in outcome measurement. This makes cross-study comparisons difficult and reduces overall confidence in the conclusions. For this reason, future research should prioritise the use or development of validated and psychometrically sound instruments that can be consistently applied across settings and populations. However, given the rapid advancements in the genomic field, even validated tools require continuous monitoring and periodic updating to ensure they reflect current knowledge and clinical relevance. Without such attention, there is a risk of premature obsolescence of assessment instruments, which could compromise their utility in both research and educational evaluation.

As the review did not evaluate the methodological quality of the included studies, the results should be interpreted cautiously, considering the potential inclusion of studies with varying levels of rigour and reliability. By addressing these challenges, the nursing profession can better integrate genomics into practice, ensuring genomic literacy becomes a foundational element of nursing education and clinical care.

In line with JBI guidance, a formal risk of bias assessment was not conducted. However, some potential sources of bias across the included studies should be acknowledged. These include the widespread reliance on self-reported data, the absence of control groups in some intervention studies and variability in measurement strategies. Collectively, these limitations may affect the robustness of the conclusions and should be considered when interpreting the results. Recognising these issues is essential to guide the design of more rigorous and comparable studies moving forward. To strengthen future research, greater emphasis should be placed on the use of validated and psychometrically robust instruments. Moreover, given the rapid and ongoing evolution of the genomic field, validated tools require continuous monitoring and periodic updating to ensure they reflect current knowledge, competencies and clinical practices. Without such revisions, assessment instruments risk becoming outdated, thus compromising their relevance for both research and educational evaluation. By addressing these methodological challenges, the nursing profession can better integrate genomics into practice, ensuring that genomic literacy becomes a foundational element of nursing education and care across diverse contexts.

This review included only studies published in English, which may have led to the exclusion of relevant research published in other languages. Although this choice was based on practical constraints, it may have limited the completeness of the evidence base by overlooking contributions from certain countries. However, as English is widely used for scholarly communication worldwide, including in non-English-speaking countries, the findings remain broadly applicable and informative for international nursing education and practice.

Although evidence is limited and heterogeneous, nurses, students and faculty reported alarmingly low levels of genomic literacy and its associated outcomes such as knowledge, competency, practical application and confidence. Educational interventions have demonstrated their effectiveness in improving knowledge across all populations, but gains in confidence and competency have been less consistent, particularly among clinical nurses. Furthermore, despite some improvements, the practical application of genomic knowledge in clinical settings remains notably limited, revealing a critical gap in translating genomic literacy into actionable practice. These findings underscore the need for robust, tailored educational strategies to address these deficits and ensure that genomic advancements are effectively integrated into nursing practice.

To move the field forward, several concrete actions are needed. These recommendations are grounded in the GenoNurse Educational Model and RoadMap, a recently published framework designed to support genomic education in nursing.84 First, genomic content should be systematically embedded within undergraduate and postgraduate nursing curricula, ensuring that all nurses acquire essential genomic knowledge and competencies early in their professional development.

Second, continuing education programmes should be promoted within clinical settings, ideally through mandatory training modules that are practice-oriented and aligned with institutional priorities. Third, education should be coupled with organisational support to enable nurses to apply genomic knowledge in daily care through clinical decision tools, interdisciplinary collaboration and access to genetics experts.

Finally, the use of structured models such as the GenoNurse Educational Model and RoadMap can guide the design, delivery and evaluation of genomic education across academic and healthcare settings, fostering a more consistent and integrated approach to competency development. These efforts are in line with international calls to action, such as those outlined by the G2NA, which advocates for the systematic integration of genomics into nursing education, practice and policy to ensure global workforce readiness.5 10

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