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OBJECTIVE: Developing targeted, culturally competent educational materials is critical for participant understanding of engagement in a large genomic study that uses computational pipelines to produce genome-informed risk assessments. MATERIALS AND METHODS: Guided by the Smerecnik framework that theorizes understanding of multifactorial genetic disease through 3 knowledge types, we developed English and Spanish infographics for individuals enrolled in the Electronic Medical Records and Genomics Network. Infographics were developed to explain concepts in lay language and visualizations. We conducted iterative sessions using a modified "think-aloud" process with 10 participants (6 English, 4 Spanish-speaking) to explore comprehension of and attitudes towards the infographics. RESULTS: We found that all but one participant had "awareness knowledge" of genetic disease risk factors upon viewing the infographics. Many participants had difficulty with "how-to" knowledge of applying genetic risk factors to specific monogenic and polygenic risks. Participant attitudes towards the iteratively-refined infographics indicated that design saturation was reached. DISCUSSION: There were several elements that contributed to the participants' comprehension (or misunderstanding) of the infographics. Visualization and iconography techniques best resonated with those who could draw on prior experiences or knowledge and were absent in those without. Limited graphicacy interfered with the understanding of absolute and relative risks when presented in graph format. Notably, narrative and storytelling theory that informed the creation of a vignette infographic was most accessible to all participants. CONCLUSION: Engagement with the intended audience who can identify strengths and points for improvement of the intervention is necessary to the development of effective infographics.

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INTRODUCTION: The adoption and implementation of genomic medicine and pharmacogenomics (PGx) in healthcare systems have been very slow and limited worldwide. Major barriers to knowledge translation into clinical practice lie in the level of literacy of the public of genetics and genomics. The aim of this study was to assess the knowledge, attitudes, and perceptions of the United Arab Emirates (UAE) multi-ethnic communities toward genomic medicine and genetic testing. METHOD: A cross-sectional study using validated questionnaires was distributed to the participants. Descriptive statistics were performed, and multivariable logistic regression models were used to identify factors associated with knowledge of genomics. RESULTS: 757 individuals completed the survey. Only 7% of the participants had a good knowledge level in genetics and genomics (95% CI 5.3-9.0%). However, 76.9% of the participants were willing to take a genetic test if their relatives had a genetic disease. In addition, the majority indicated that they would disclose their genetic test results to their spouses (61.5%) and siblings (53.4%). CONCLUSIONS: This study sets the stage for the stakeholders to plan health promotion and educational campaigns to improve the genomic literacy of the community of the UAE as part of their efforts for implementing precision and personalized medicine in the country.

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Objective: To examine definitions and measures for genetic literacy in the published literature, and the associations between commonly utilized measures. Methods: We completed a systematic review searching eight databases for empirical articles containing quantitative measures of genetic literacy. Articles were assessed for study properties, definitions, and measure characteristics. An online survey was then completed by 531 U.S. adults to examine correlations between frequently used genetic literacy measures. Results: 92 articles met inclusion criteria for the systematic review. Articles rarely defined genetic literacy, and existing definitions showed inconsistencies in the knowledge and cognitive domains that comprise genetic literacy. Definitions frequently included objective conceptual knowledge, comprehension, and applied knowledge, however most measures only assessed objective or subjective knowledge. Genetic literacy measures were infrequently assessed for psychometric properties and the content domains assessed by measures varied considerably. Correlation analyses showed weak to moderate relationships between genetic literacy measures. Conclusion: A comprehensive and consistent definition of genetic literacy and its cognitive and conceptual domains should be implemented to inform the development of concordant measurement tools and improve research and clinical care in genetics. Innovation: We examine and compare definitions and measures of genetic literacy, suggest a more comprehensive definition, and recommendations for research development.

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Ensuring that patients have an adequate understanding of pharmacogenomic (PGx) test results is a critical component of implementing precision medicine into clinical care. However, no PGx-specific validated literacy assessment has yet been developed. To address this need, we developed and validated the Minnesota Assessment of Pharmacogenomic Literacy (MAPLTM). Foundational work included a scoping review of patient and general public attitudes and experiences with pharmacogenomic testing, three focus groups, readability assessments, and review by experts and members of the general public. This resulted in a 15-item assessment designed to assess knowledge in four domains: underlying concepts, limitations, benefits, and privacy. For validation, 646 participants completed the MAPL as a part of a larger survey about pharmacogenomic research and statewide PGx implementation. Two items were deemed to be "too easy" and dropped. The remaining 13 items were retained in the final MAPL with good internal reliability (Cronbach's alpha = 0.75). Confirmatory factor analysis validated the four-domain construct of MAPL and suggested good model performance and high internal validity. The estimated coefficient loadings across 13 questions on the corresponding domains are all positive and statistically significant (p < 0.05). The MAPL covers multiple knowledge domains of specific relevance to PGx and is a useful tool for clinical and research settings where quantitative assessment of PGx literacy is of value.

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An understanding of genetics is becoming increasingly relevant to receiving medical care. It is important for health care providers and educators, including genetic counselors, to understand patients' perceptions about trait transmission and their interpretation of terms used in biomedicine. Knowledge about the patient perspective about trait transmission is important when health care providers are not fluent in the patient's language. Sixty Latinx immigrant adults (30 men and 30 women) who were born in Mexico or Central America (MCA) and living in North Carolina were interviewed about their heredity beliefs. By design, most participants had limited education. Eight percent had a least a high school education; 45% had less than a seventh grade education. Semi-structured, in-depth interviews were conducted to examine how participants think and discuss trait transmission. The translated transcripts were systematically analyzed using a case-based approach, supplemented by theme-based coding. Five lay mental models of heredity were identified that varied in terms of involvement of genes. Four of the five heredity mental models encompass genes; four out of five mental models do not link DNA to heredity. The centrality of blood, whether used metaphorically or literally, varies widely across the models. One model references God and depicts that heredity involves blood and/or genes, but not DNA. The mental models of heredity for most adult immigrants with limited education do not include DNA. Trait transmission by blood appears to have a more prominent role in lay mental models held by Mexicans than Central Americans. Increased patient knowledge about genetics can facilitate shared decision-making as genetics becomes increasingly relevant to medical care. Efforts to educate people can be most effective when we first understand the layperson's conceptions or mental models. Health care providers and educators should be aware that MCA adults with limited formal education hold diverse mental models about heredity.

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Genomics is an advancing field of medicine, science, ethics, and legislation. Keeping up to date with this challenging discipline requires continuous education and exchange of knowledge between many target groups. Specific challenges in genomic education include tailoring complex topics to diverse audiences ranging from the general public and patients to highly educated professionals. National genomic projects face many of the same challenges and thus offer many opportunities to highlight common educational strategies for improving genomic literacy. We have reviewed 41 current national genomic projects and have identified 16 projects specifically describing their approach to genomic education. The following target groups were included in the educational efforts: the general public (nine projects), patients (six projects), and genomic professionals (16 projects), reflecting the general overall aims of the projects such as determining normal and pathological genomic variation, improving infrastructure, and facilitating personalized medicine. The national genomic projects aim to increase genomic literacy through supplementing existing national education in genomics as well as independent measures specifically tailored to each target group, such as training events, research collaboration, and online resources for healthcare professionals, patients, and patient organizations. This review provides the current state of educational activities within national genomic projects for different target groups and identifies good practices that could contribute to patient empowerment, public engagement, proficient healthcare professionals, and lend support to personalized medicine.

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BACKGROUND: Genomic testing is increasingly employed in clinical, research, educational, and commercial contexts. Genomic literacy is a prerequisite for the effective application of genomic testing, creating a corresponding need for validated tools to assess genomics knowledge. We sought to develop a reliable measure of genomics knowledge that incorporates modern genomic technologies and is informative for individuals with diverse backgrounds, including those with clinical/life sciences training. METHODS: We developed the GKnowM Genomics Knowledge Scale to assess the knowledge needed to make an informed decision for genomic testing, appropriately apply genomic technologies and participate in civic decision-making. We administered the 30-item draft measure to a calibration cohort (n = 1,234) and subsequent participants to create a combined validation cohort (n = 2,405). We performed a multistage psychometric calibration and validation using classical test theory and item response theory (IRT) and conducted a post-hoc simulation study to evaluate the suitability of a computerized adaptive testing (CAT) implementation. RESULTS: Based on exploratory factor analysis, we removed 4 of the 30 draft items. The resulting 26-item GKnowM measure has a single dominant factor. The scale internal consistency is α = 0.85, and the IRT 3-PL model demonstrated good overall and item fit. Validity is demonstrated with significant correlation (r = 0.61) with an existing genomics knowledge measure and significantly higher scores for individuals with adequate health literacy and healthcare providers (HCPs), including HCPs who work with genomic testing. The item bank is well suited to CAT, achieving high accuracy (r = 0.97 with the full measure) while administering a mean of 13.5 items. CONCLUSION: GKnowM is an updated, broadly relevant, rigorously validated 26-item measure for assessing genomics knowledge that we anticipate will be useful for assessing population genomic literacy and evaluating the effectiveness of genomics educational interventions.

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PURPOSE: The National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH) recognizes an urgent need for educator resources on cutting edge scientific topics due to increased public interest in genetics and genomics. We developed a Short Course in Genomics ("Short Course") to inspire new teaching materials through collaborative course development sessions and lectures, to expand access to cutting edge scientific information, and to provide a framework to consider when crafting new coursework related to scientific education. METHODS: We compared publicly available participant data from 2015 to 2019 with data from the National Center for Education Statistics to assess our progress in serving diverse educator and student populations. We also evaluated course agendas and interviewed participants and instructors. RESULTS: Middle school, high school, community college, and tribal college course attendees from the last five years were more likely to teach students from diverse communities underrepresented in science, technology, engineering, and mathematics (STEM). Both attendees and Short Course instructors emphasized the importance of bidirectional learning through interactive curriculum development. CONCLUSION: This course has the potential to facilitate the engagement of educators and students at all levels, recruit and maintain a diverse STEM workforce, and improve genomic literacy and future health decision-making.

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The key role of bioinformatics in explaining biological phenomena calls for the need to rethink didactic approaches at high school aligned with a new scientific reality. Despite several initiatives to introduce bioinformatics in the classroom, there is still a lack of knowledge on their impact on students' learning gains, engagement, and motivation. In this study, we detail the effects of four bioinformatics laboratories tailored for high school biology classes named "Mining the Genome: Using Bioinformatics Tools in the Classroom to Support Student Discovery of Genes" on literacy, interest, and attitudes on 387 high school students. By exploring these laboratories, students get acquainted with bioinformatics and acknowledge that many bioinformatics tools can be intuitive for beginners. Furthermore, introducing comparative genomics in their learning practices contributed for a better understanding of curricular contents regarding the identification of genes, their regulation, and how to make evolutionary assumptions. Following the intervention, students were able to pinpoint bioinformatics tools required to identify genes in a genomics sequence, and most importantly, they were able to solve genomics-related misconceptions. Overall, students revealed a positive attitude regarding the integration of bioinformatics-based approaches in their learning practices, reinforcing their added value in educational approaches.

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PURPOSE: Increased implementation of complex genetic technologies in clinical practice emphasizes the urgency of genomic literacy and proficiency for medical professionals. We evaluated our genomic education model. METHODS: We assessed the 5-day, extended format program, encompassing lectures, videos, interactive tests, practice cases, and clinical exercises. Pre- and post questionnaires assessed knowledge change, using t-tests to compare groups. Satisfaction on program completion and after 3 years were evaluated. Implementation in other centers determined acceptability. RESULTS: During 2012-2018, 774 clinicians from multiple disciplines and career stages attended 35 programs; 334 (43%) attended the 5-day extended format. Evaluations showed significant improvement of genomic literacy (mean 15.05/100 points, p < 0.001). Residents initially had higher scores than specialists (pre: 66.3 ± 17.3 vs. 58.7 ± 16.6, respectively, p = 0.002); both significantly improved, with specialists "catching up" (post: 79.1 ± 17.2 vs. 75.7 ± 15.9, nonsignificant (NS)); there was a similar trend between fellows and subspecialists (pre: 70 ± 18 vs. 59.4 ± 16.4, respectively, p = 0.007; post: 78.6 ± 16.4 vs. 73.2 ± 17.7, respectively, NS). Younger specialists (≤10 years residency) had significantly higher pre- and post scores. Absolute improvement in scores did not depend on medical specialties. CONCLUSION: Our program is effective in improving genomics literacy for clinicians, irrespective of career length or expertise, and could be a model for improving skills in practical genomics for all medical professionals.

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Effective communication, where all parties share a common understanding, is necessary to realize the promise of Genomic Medicine. It is especially salient given the imperative to increase the participation of diverse populations in genomics research and to expand the reach of clinical genomics. We have previously shown that cancer genetic counseling is suboptimal for patients with limited health literacy. To address this finding, we implemented a pilot study to improve verbal communication between genetic counselors and their patients of limited health literacy that consisted of: i) curriculum development and delivery of a Genetic Counselors (GC) communication workshop; ii) two-month post-workshop interviews with GC participants (n = 9); iii) observations/audio recordings of counseling sessions involving 24 patients and two GC workshop participants; iv) post-counseling interviews with patients (n = 9). The 4.5-h workshop presented evidenced-based principles and strategies for effective communication with limited health literacy patients (e.g. use of plain language and teach-back), and offered specific techniques and exercises to practice adoption of such practices in the genetic counseling context. GCs expressed appreciation for the opportunity to refine their skills; however, they reported that some strategies were challenging given their professional training and communication habits. For example, GCs were concerned that use of plain language could undermine efforts to obtain informed consent and provide scientifically accurate information. Observations and patient interviews after the workshop revealed that GCs were able to employ the communication strategies with positive effects, with patients indicating sufficient understanding of the genetic test and its implications as well as satisfaction with the counselors' communication. While derived from research on communication with those of limited health literacy, the communication approaches taught in the GC workshop could benefit most patients, given the high rates of low health literacy in many countries, and the many factors beyond health literacy that can contribute to reduced comprehension in health care environments.

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PURPOSE: Adolescents increasingly need to be "genomics literate," and may engage more with video educational formats than traditional written formats. We conducted a pilot study to assess and compare the impact of two modes of education about genome sequencing (GS) on adolescents' genomic knowledge and genomic-related decisions. METHODS: Using an online survey, 43 adolescents ages 14-17 years were randomly assigned to watch a video or read a pamphlet about GS. Measures included pre- and postintervention assessment of genomic knowledge, perceived utility of these materials for decisions about participating in genetic research, interest in receiving GS results, and overall satisfaction with these materials. Analyses described results for all participants and compared results between intervention groups. RESULTS: Self-reported genomic knowledge increased overall (p < 0.001). Postintervention knowledge about GS limitations was higher among video group than pamphlet group participants (p = 0.038). More video group than pamphlet group participants expressed satisfaction with the material's understandability (45% vs. 29%) and suitability (91% vs. 76%). Interest in receiving personal GS results was significantly associated with being female (p = 0.01) and younger (14-15 years vs. 16-17 years) (p = 0.002). CONCLUSION: A video format may be preferable for increasing genomic literacy among adolescents. Further research with adolescents is needed to better understand how gender and age may impact genomic decisions and preferences.

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This commentary highlights the essential role of the social and behavioral sciences for genomic translation, and discusses some priority research areas in this regard. The first area encompasses genetics of behavioral, social, and neurocognitive factors, and how integration of these relationships might impact the development of treatments and interventions. The second area includes the contributions that social and behavioral sciences make toward the informed translation of genomic developments. Further, there is a need for behavioral and social sciences to inform biomedical research for effective implementation. The third area speaks to the need for increased outreach and education efforts to improve the public's genomic literacy such that individuals and communities can make informed health-related and societal (e.g., in legal or consumer settings) decisions. Finally, there is a need to prioritize representation of diverse communities in genomics research and equity of access to genomic technologies. Examples from National Institutes of Health-based intramural and extramural research programs and initiatives are used to discuss these points.

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BACKGROUND: This article investigates the genomic knowledge of oncology care physicians in the adoption of clinical genomics. We apply Rogers' knowledge framework from his diffusion of innovation theory to identify three types of knowledge in the process of translation and adoption: awareness, how-to, and principles knowledge. The objectives of this systematic review are to: (1) examine the level of knowledge among physicians in clinical cancer genomics, and (2) identify potential interventions or strategies for development of genomic education for oncology practice. METHODS: We follow the PRIMSA statement protocol and conduct a search of five relevant electronic databases. Our review focuses on: (1) genomic knowledge of oncogenomics or genomic services in oncology practices among physicians, and (2) interventions or strategies to provide genomic education of oncogenomics for physicians. RESULTS: We include twenty-one studies in our analysis. Nine focus on interventions to provide genomic education for cancer care. Overall, physicians' knowledge of oncogenomics among the three types is limited. The genomic literacy of physicians vary by their provider specialty, location, years of practice, and the type of genomic services. The three distinctions of knowledge offer a sophisticated and helpful tool to design effective strategies and interventions to provide genomic education for cancer treatment. In the nine educational intervention studies, the main intervention outcomes are changes in awareness, referral rates, genomic confidence, and genomic knowledge. CONCLUSION: Rogers' diffusion of innovation model allows us to differentiate three types of knowledge in the development and adoption of clinical genomics. This analytical lens can inform potential avenues to design more effective strategies and interventions to provide genomic education for oncology practice. We identified and synthesized a dearth of high quality studies that can inform the most effective educational outcomes of these interventions. Future research should attend to improving applications of genomic services in clinical practices, along with organizational change engendered by genomics in oncology practice.

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BACKGROUND: It has been over a decade since the completion of the Human Genome Project (HGP), genomic sequencing technologies have yet to become parts of standard of care in Canada. This study investigates medical oncologists' (MOs) genomic literacy and their experiences based on their participation in a cancer genomics trial in British Columbia, Canada. METHODS: The authors conducted a survey of MOs from British Columbia, Canada (n = 31, 52.5% response rate), who are actively involved in a clinical genomics trial called Personalized Onco-Genomics (POG). The authors also measured MOs' level of genomic knowledge and attitudes about clinical genomics in cancer medicine. RESULTS: The findings show a low to moderate level of genomic literacy among MOs. MOs located outside the Vancouver area (the major urban center) reported less knowledge about new genetics technologies compared to those located in the major metropolitan area (26.7 vs 73.3%, P < 0.07, Fisher exact test). Forty-two percent of all MOs thought medical training programs do not offer enough genomic training. The majority of the respondents thought genomics will have major impact on drug discovery (67.7%), and treatment selection (58%) in the next 5 years. They also thought the major challenges are cost (61.3%), patient genomic literacy (48.3%), and clinical utility of genomics (42%). CONCLUSIONS: The data suggest a high need to increase genomic literacy among MOs and other doctors in medical school training programs and beyond, especially to physicians in regional areas who may need more educational interventions. Initiatives like POG play a critical role in the education of MOs and the integration of big data clinical genomics into cancer care.

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Patient letters are a powerful tool that genetic counselors use to communicate with their patients. Patient letters are often sent to provide information on a new diagnosis, reiterate test results, and to serve as a permanent record of the visit. Patient letters, however, are only helpful if the patients can understand them. More than 50 % of the US population reads below a 9th grade reading level and over one-third of the population has low health literacy skills. In this study we evaluate the readability of genetic counseling patient letters by assessing reading level, image use, and terminology use. One hundred forty-nine genetic counselors participated in the survey and of these, 79 submitted a sample patient letter. Analyses of the letters revealed a mean reading level of 10.93. On average, 6 genetic terms were included in each letter, and only 25 % of these terms were defined. Analyses of survey responses revealed over 75 % of the genetic counselors did not include images in their patient letters. These results indicate there is room for improvement in order to make genetic counseling patient letters more accessible to the general population.

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