Addressing Barriers and Facilitators to African Americans' and Hispanics' Participation in Clinical and Genomic Research Through a Bioethical Sensitive Video.

Research advances on effective methods to prevent, diagnose, and treat cancer continue to emerge through clinical and genomic research. Most clinical trial and genomic research participants identify as White which limits the generalizability of research findings to non-White populations. With the development and access to technology, digital delivery of salient and tailored health education may provide innovative pathways to increase representation of African Americans (AA) and Hispanics in research. This project focused on the creation of a bioethical sensitive education video aimed at increasing participation in clinical trials and genomic research by bringing together experts from the community, healthcare, biomedical research, and public health. The goal was to utilize existing educational resources to create a tailored message to address AA/Hispanics' beliefs, values, and bioethical concerns related to participation in clinical and genomic research. Models of behavior change and communication theories were leveraged to frame key components of the message, which then informed the framework for the animated video. Development of the video consisted of six iterative phases: 1) writing sessions; 2) storyboarding; 3) animating; 4) screening/revisions; 5) acceptability testing; 6) finalization. The final animated video is approximately 5 min in length and covers several topics including the goal of clinical research, disparities in research participation, bioethical concerns, and genomic research regulations. Increasing AA and Hispanic participation in clinical and genomic research is imperative to achieving health equity. Tailored messages via short videos may assist in addressing the barriers and facilitators towards research participation and increase intentions to enroll in trials.

A systematic review of genomic education for nurses and nursing students: Are they sufficient in the era of precision health?

BACKGROUND: Integration of genomic content into nursing curricula and continuing education is limited. PURPOSE: This systematic review aimed to identify educational strategies to deliver genomics content. METHODS: CINAHL Plus, ERIC, Ovid MEDLINE, and Scopus electronic databases were searched from January 1, 2003 through July 6, 2023. The three domains of learning: cognitive, affective, and psychomotor were used to categorize educational outcomes. A narrative approach was used to synthesize the data using Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines. DISCUSSION: Ten studies met inclusion criteria. Quality assessment for bias was conducted independently; study quality ranged from fair to poor. No study used a complete psychometrically tested instrument to measure genomic cognitive or affective knowledge; none measured the psychomotor domain. CONCLUSIONS: Effective strategies to deliver genomic education are a priority. Development of reliable and valid instruments for the assessment of educational interventions, including the psychomotor skills needed for practice.

Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network.

PURPOSE: While there is growing scientific evidence for and significant advances in the use of genomic technologies in medicine, there is a significant lag in the clinical adoption and sustainability of genomic medicine. Here we describe the findings from the National Human Genome Research Institute's (NHGRI) Implementing GeNomics In pracTicE (IGNITE) Network in identifying key constructs, opportunities, and challenges associated with driving sustainability of genomic medicine in clinical practice. METHODS: Network members and affiliates were surveyed to identify key drivers associated with implementing and sustaining a genomic medicine program. Tallied results were used to develop and weigh key constructs/drivers required to support sustainability of genomic medicine programs. RESULTS: The top three driver-stakeholder dyads were (1) genomic training for providers, (2) genomic clinical decision support (CDS) tools embedded in the electronic health record (EHR), and (3) third party reimbursement for genomic testing. CONCLUSION: Priorities may differ depending on healthcare systems when comparing the current state of key drivers versus projected needs for supporting genomic medicine sustainability. Thus we provide gap-filling guidance based on IGNITE members' experiences. Although results are limited to findings from the IGNITE network, their implementation, scientific, and clinical experience may be used as a road map by others considering implementing genomic medicine programs.

Genomics for Nursing Education and Practice: Measuring Competency.

BACKGROUND: Nurses lack genome literacy, skill, and self-confidence in applying genomics to health care. Standardized curricula and evaluation tools are needed for wide spread uptake and application of genome science in nursing education, practice, and research. AIM: To determine whether psychometrically robust survey instruments exist to assess knowledge, skills, attitudes, and self-confidence in applying genomic nursing competency among students and registered nurses. DESIGN: Psychometric systematic review. DATA SOURCES: Medline, CINAHL, Academic Search Elite, Web of Science, and ProQuest Dissertations were searched from 1995 to 2014, with an English language restriction. PROCEDURES: Critical analysis of the study elements and psychometric attributes was conducted after data were abstracted into analysis and synthesis tables. The synthesis assessed the design, methods, and measurement properties with a focus on reliability and validity using 16 criteria on a 4-point grading scale. FINDINGS: Twelve studies were included in a detailed review that focused on assessment of genomic nursing core competencies. Six studies met the inclusion criteria. In terms of psychometric quality of the instruments, one study scored high, two moderate, two low, and one very low. LINKING EVIDENCE TO ACTION: Most instruments assess self-perceived rather than objectively assessed competency. The highest quality instrument lacks clinical application. Knowledge-focused test questions based on up-to-date genome science that are relevant to practice need to be developed.

Behavioral and psychosocial responses to genomic testing for colorectal cancer risk.

We conducted a translational genomic pilot study to evaluate the impact of genomic information related to colorectal cancer (CRC) risk on psychosocial, behavioral and communication outcomes. In 47 primary care participants, 96% opted for testing of three single nucleotide polymorphisms (SNPs) related to CRC risk. Participants averaged 2.5 of 6 possible SNP risk alleles (10% lifetime risk). At 3-months, participants did not report significant increases in cancer worry/distress; over half reported physical activity and dietary changes. SNP risk scores were unrelated to behavior change at 3-months. Many participants (64%) shared their SNP results, including 28% who shared results with a physician. In this pilot, genomic risk education, including discussion of other risk factors, appeared to impact patients' health behaviors, regardless of the level of SNP risk. Future work can compare risk education with and without SNP results to evaluate if SNP information adds value to existing approaches.

Perceptions of genetic counseling services in direct-to-consumer personal genomic testing.

To describe consumers' perceptions of genetic counseling services in the context of direct-to-consumer personal genomic testing is the purpose of this research. Utilizing data from the Scripps Genomic Health Initiative, we assessed direct-to-consumer genomic test consumers' utilization and perceptions of genetic counseling services. At long-term follow-up, approximately 14 months post-testing, participants were asked to respond to several items gauging their interactions, if any, with a Navigenics genetic counselor, and their perceptions of those interactions. Out of 1325 individuals who completed long-term follow-up, 187 (14.1%) indicated that they had spoken with a genetic counselor. The most commonly given reason for not utilizing the counseling service was a lack of need due to the perception of already understanding one's results (55.6%). The most common reasons for utilizing the service included wanting to take advantage of a free service (43.9%) and wanting more information on risk calculations (42.2%). Among those who utilized the service, a large fraction reported that counseling improved their understanding of their results (54.5%) and genetics in general (43.9%). A relatively small proportion of participants utilized genetic counseling after direct-to-consumer personal genomic testing. Among those individuals who did utilize the service, however, a large fraction perceived it to be informative, and thus presumably beneficial.

Horizon Scanning: Teaching Genomics and Personalized Medicine in the Digital Age.

Digital transformation is currently impacting not only health care but also education curricula for medicine and life sciences. The COVID-19 pandemic has accelerated the deployment of digital technologies such as the Internet of Things and artificial intelligence in diverse fields of biomedicine. Genomics and related fields of inquiry such as pharmacogenomics and personalized medicine have been making important progress over the past decades. However, the genomics knowledge of health care professionals and other stakeholders in society is not commensurate with the current state of progress in these scientific fields. The rise of digital health offers unprecedented opportunities both for health care professionals and the general public to expand their genomics literacy and education. This expert review offers an analysis of the bottlenecks that affect and issues that need to be addressed to catalyze genomics and personalized medicine education in the digital era. In addition, we summarize and critically discuss the various educational and awareness opportunities that presently exist to catalyze the delivery of genomics knowledge in ways closely attuned to the emerging field of digital health.

Increasing Genomic Literacy Through National Genomic Projects.

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.

Development of an Evidence-Based, Theory-Informed National Survey of Physician Preparedness for Genomic Medicine and Preferences for Genomics Continuing Education.

Despite some early implementation of genomic medicine globally, there is a lack of rigorous, large-scale assessments of medical specialists' current practice and continuing education needs. As a first step to addressing this gap, we describe the development of a robust, expert-reviewed, survey using a mixed-methods sequential study design. We conducted semi-structured qualitative interviews with 32 education providers and 86 non-genetic medical specialists about current genomic medicine practice and need for continuing education. Key concepts were identified and used as an initial framework for the survey. These were: personal characteristics (medical specialty, years of practice); current practice of genomics in clinical and research settings; perception of how proximal genomic medicine is to practice; perception of preparedness (competence and confidence); and, preferences for future roles and models of care in genomic medicine and for continuing education. Potential survey questions that related to at least one of these concepts were identified from the literature or were created if no suitable question existed. Using a modified, reactive Delphi approach, questions were reviewed by a panel of 22 experts. Experts were selected purposefully representing four areas of expertise: non-genetic medical specialties; clinical genetics; genetic/genomic education and evaluation; and implementation science. Three Delphi rounds assessed relevance, clarity and importance of each question. The questions were also mapped to the behaviour change wheel theoretical framework which encompasses capability, opportunity and motivation (COM-B). The survey (included as supplementary material) was then tested with a small group of non-genetic medical specialists and feedback was written or verbal in 'talk-aloud', cognitive interviews. The final survey was then piloted with a further 29 specialists. We describe the methodology to create a robust, data- and theory-informed survey. The final survey captures not only levels of experience, practice of genomics and preferences for education but also the challenges around engaging with education. Survey data will provide evidence for education providers to inform development of education which meets learner needs and contributes to a medical workforce that is literate in genomics and more confident to competently practice genomic medicine.

Preparing Medical Specialists for Genomic Medicine: Continuing Education Should Include Opportunities for Experiential Learning.

With the demand for genomic investigations increasing, medical specialists will need to, and are beginning to, practice genomic medicine. The need for medical specialists from diverse specialties to be ready to appropriately practice genomic medicine is widely recognised, but existing studies focus on single specialties or clinical settings. We explored continuing education needs in genomic medicine of a wide range of medical specialists (excluding genetic specialists) from across Australia. Interviews were conducted with 86 medical specialists in Australia from diverse medical specialties. Inductive content analysis categorized participants by career stage and genomics experience. Themes related to education needs were identified through constant comparison and discussion between authors of emerging concepts. Our findings show that participants believe that experiential learning in genomic medicine is necessary to develop the confidence and skills needed for clinical care. The main themes reported are: tailoring of education to the specialty and the individual; peer interactions contextualizes knowledge; experience will aid in developing confidence and skills. In fact, avenues of gaining experience may result in increased engagement with continuing education in genomic medicine as specialists are exposed to relevant applications in their clinical practice. Participants affirmed the need for continuing education in genomic medicine but identified that it would need to be tailored to the specialty and the individual: one size does not fit all, so a multifaceted approached is needed. Participants infrequently attended formal continuing education in genomic medicine. More commonly, they reported experiential learning by observation, case-review or interacting with a "genomics champion" in their specialty, which contextualized their knowledge. Medical specialists anticipate that genomic medicine will become part of their practice which could lessen demand on the specialist genetic workforce. They expect to look to experts within their own medical specialty who have gained genomics expertise for specific and contextualized support as they develop the skills and confidence to practice genomic medicine. These findings highlight the need to include opportunities for experiential learning in continuing education. Concepts identified in these interviews can be tested with a larger sample of medical specialists to ascertain representativeness.

Preparing Medical Specialists to Practice Genomic Medicine: Education an Essential Part of a Broader Strategy.

Developing a competent workforce will be crucial to realizing the promise of genomic medicine. The preparedness of medical specialists without specific genetic qualifications to play a role in this workforce has long been questioned, prompting widespread calls for education across the spectrum of medical training. Adult learning theory indicates that for education to be effective, a perceived need to learn must first be established. Medical specialists have to perceive genomic medicine as relevant to their clinical practice. Here, we review what is currently known about medical specialists' perceptions of genomics, compare these findings to those from the genetics era, and identify areas for future research. Previous studies reveal that medical specialists' views on the clinical utility of genomic medicine are mixed and are often tempered by several concerns. Specialists generally perceive their confidence and understanding to be lacking; subsequently, they welcome additional educational support, although specific needs are rarely detailed. Similar findings from the genetics era suggest that these challenges are not necessarily new but on a different scale and relevant to more specialties as genomic applications expand. While existing strategies developed for genetic education and training may be suitable for genomic education and training, investigating the educational needs of a wider range of specialties is critically necessary to determine if tailored approaches are needed and, if so, to facilitate these. Other interventions are also required to address some of the additional challenges identified in this review, and we encourage readers to see education as part of a broader implementation strategy.

Genomic Education at Scale: The Benefits of Massive Open Online Courses for the Healthcare Workforce.

To support the delivery of the UK's 100,000 Genomes Project, Health Education England's Genomics Education Programme developed a suite of resources, including a 3-week Massive Open Online Course (MOOC) on whole genome sequencing via the FutureLearn platform. This MOOC is a synchronous learning event, with course educators and mentors (NHS healthcare science trainees in genomics) facilitating the experience in real time. Crucially, the platform allows participants to interact and learn from each other's experiences. The evaluation of the course was considered from the learners' and mentors' perspectives. Perceptions of course relevance were examined through analysis of learner comments made throughout the course and responses to an end-of-course survey. Evaluation of mentors' experiences focused on how prepared they felt to undertake their role and the value and benefit of their experience. Data was collected through a mixed methods study after the first two runs of the course. Here we present findings from 440 learners who provided end-of-course reflections, 360 learners who completed the post-course survey and 14 mentors who facilitated the course. The course met learners' needs by providing a greater understanding of whole genome sequencing and the application of this technology in healthcare. Learners also highly valued the engagement with mentors. Mentors appreciated the experience and identified areas of professional development gained through the mentoring experience. Our findings show that a team of specialist healthcare course mentors engaging with a range of different healthcare professional MOOC learners in online conversation can enhance the learners' experiences and provide a beneficial continuing professional development opportunity for mentors.