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At least 19 recordsLinked to original sources

PubMed2024

Genomes for Nurses: Understanding and Overcoming Barriers to Nurses Utilizing Genomics.

Background: Genomic testing is an increasingly important technology within pediatric oncology that aids in cancer diagnosis, provides prognostic information, identifies therapeutic targets, and reveals underlying cancer predisposition. However, nurses lack basic knowledge of genomics and have limited self-assurance in using genomic information in their daily practice. This single-institution project was carried out at an academic pediatric cancer hospital in the United States with the aim to explore the barriers to achieving genomics literacy for pediatric oncology nurses. Method: This project assessed barriers to genomic education and preferences for receiving genomics education among pediatric oncology nurses, nurse practitioners, and physician assistants. An electronic survey with demographic questions and 15 genetics-focused questions was developed. The final survey instrument consisted of nine sections and was pilot-tested prior to administration. Data were analyzed using a ranking strategy, and five focus groups were conducted to capture more-nuanced information. The focus group sessions lasted 40 min to 1 hour and were recorded and transcribed. Results: Over 50% of respondents were uncomfortable with or felt unprepared to answer questions from patients and/or family members about genomics. This unease ranked as the top barrier to using genomic information in clinical practice. Discussion: These results reveal that most nurses require additional education to facilitate an understanding of genomics. This project lays the foundation to guide the development of a pediatric cancer genomics curriculum, which will enable the incorporation of genomics into nursing practice.

Humans↗

PubMed2026

Educational approaches to enhance genomics competencies among health sciences students: A scoping review with implications for nursing education.

INTRODUCTION: Genomics is increasingly recognized as essential for precision health, yet its integration into undergraduate nursing and other health sciences curricula remains limited. Persistent gaps in genomics literacy and confidence among students and professionals indicate that current educational approaches may not adequately prepare graduates for genomics-informed care and precision health. The aim of this review is to map educational approaches and methods used to enhance genomic competencies among undergraduate health sciences students and discuss implications for nursing education. METHODS: Scoping review, reported in accordance with PRISMA-ScR recommendations. Systematic search in CINAHL Ultimate, ERIC, and MEDLINE for studies published in English between January 2015 and December 2024 was undertaken. Data were charted using a standardized extraction form and synthesized descriptively and narratively, grouping interventions by educational approach, methods, strategies, techniques, and tools. RESULTS: Thirty-one studies were included, mostly from the United States, involving primarily medical and nursing students. Educational approaches centered on experiential and practice-based learning, simulation, case- and problem-based learning, flipped classrooms, collaborative or interprofessional learning, narrative and arts-based methods, and technology-enhanced strategies such as virtual labs, online modules, and digital storytelling. These approaches were associated with improvements in genomic knowledge, application to clinical scenarios, ethical awareness, engagement, and self-reported confidence, although outcomes were predominantly short-term. CONCLUSIONS: Genomics education for health sciences students is characterized by diverse, largely experiential and student-centered approaches. Integration into curricula remains fragmented and often focused on genetics rather than broader genomics and precision health. Nurse educators should prioritize integrated, authentic, and ethically informed genomics education, supported by educator development and digital technologies, including generative AI, to prepare graduates for precision nursing care.

Genomics↗

PubMed2025

Gene model for the ortholog of Ilp4 in Drosophila eugracilis.

Gene Model for Insulin-like peptide 4 (Ilp4) in the D. eugracilis (DeugGB2) assembly (GCA_000236325.2). The characterization of this ortholog was carried out as part of a larger, ongoing dataset designed to explore the evolution of the insulin/insulin-like growth factor signaling (IIS) pathway across the genus Drosophila, utilizing the Genomics Education Partnership gene annotation protocol within Course-based Undergraduate Research Experiences.

Bioinformatics↗

PubMed2025

Gene model for the ortholog of foxo in Drosophila sechellia.

Gene model for the ortholog of forkhead box, sub-group O (foxo) in the May 2011 (Broad dsec_caf1/DsecCAF1) Genome Assembly (GenBank Accession: GCA_000005215.1) of Drosophila sechellia. This ortholog was characterized as part of a developing dataset to study the evolution of the Insulin/insulin-like growth factor signaling pathway (IIS) across the genus Drosophila using the Genomics Education Partnership gene annotation protocol for Course-based Undergraduate Research Experiences.

Bioinformatics↗

PubMed2025

Gene model for the ortholog of Glys in Drosophila ananassae.

Gene model for the ortholog of Glycogen synthase (Glys) in the May 2011 (Agencourt dana_caf1/DanaCAF1) Genome Assembly (GenBank Accession: GCA_000005115.1) of Drosophila ananassae. This ortholog was characterized as part of a developing dataset to study the evolution of the Insulin/insulin-like growth factor signaling pathway (IIS) across the genus Drosophila using the Genomics Education Partnership gene annotation protocol for Course-based Undergraduate Research Experiences.

Bioinformatics↗

PubMed2026

Uptake of germline testing for Lynch Syndrome in patients with deficient mismatch repair/ microsatellite-high colorectal cancer in the public hospital system in South Australia.

Lynch syndrome (LS) accounts for approximately 4% of colorectal cancer (CRC) cases and arises from pathogenic variants in mismatch repair (MMR) genes. Australian guidelines recommend universal MMR or microsatellite instability (MSI) screening in all CRC patients; however, real-world uptake remains variable. This study evaluated rates of MMR/MSI screening, germline testing, and genetics referrals across two major public hospitals in South Australia. A retrospective review of 1775 patients discussed at colorectal multidisciplinary team meetings in the Royal Adelaide and Queen Elizabeth hospitals between January 2021 and December 2023 was conducted to identify rates of MMR/MSI screening and subsequent referral of eligible patients to genetics. Of the 1129 colorectal cancer cases identified, MMR/MSI testing was performed in 93.2% (1052/1129), with deficiency detected in 12.5% (131/1052). Of these, 37% (49/131) were eligible for genetics referral after exclusion of somatic causes. Among eligible patients, 73.5% (36/49) were referred, and 43% (21/49) underwent germline testing. LS was confirmed in 12 patients (9% of deficient MMR CRC), while 9 patients (6.9%) were classified as having Lynch-like syndrome. Despite high screening rates, gaps remain in genetics referral and testing. Barriers included lack of reflex testing, loss to follow-up, and patient refusal. Targeted system-level interventions and improved genomic education are needed to enhance adherence to guidelines and optimise patient outcomes.

Humans↗

PubMed2025

Gene model for the ortholog of Pi3K21B in Drosophila eugracilis.

Gene model for the ortholog of Phosphatidylinositol 3-kinase 21B (Pi3K21B) in the D. eugracilis May 2021 (Stanford ASM1815383v1/DeugRefSeq2) Genome Assembly (GenBank Accession: GCF_018153835.1) of Drosophila eugracilis. This ortholog was characterized as part of a developing dataset to study the evolution of the Insulin/insulin-like growth factor signaling pathway (IIS) across the genus Drosophila using the Genomics Education Partnership gene annotation protocol for Course-based Undergraduate Research Experiences.

Journal Article↗

PubMed2026

Gene Model for the ortholog of Ilp2 in Drosophila ananassae.

Gene model for the ortholog of Insulin-like peptide 2 ( Ilp2 ) in the D. ananassae May 2011 (Agencourt dana_caf1/DanaCAF1) Genome Assembly (GenBank Accession: GCA_000005115.1 ) of Drosophila ananassae . This ortholog was characterized as part of a developing dataset to study the evolution of the Insulin/insulin-like growth factor signaling pathway (IIS) across the genus Drosophila using the Genomics Education Partnership gene annotation protocol for Course-based Undergraduate Research Experiences.

Journal Article↗

PubMed2026

Gene model for the ortholog of Pi3K21B in Drosophila ananassae.

Gene model for the ortholog of Phosphatidylinositol 3-kinase 21B ( Pi3K21B ) in the May 2011 (Agencourt dana_caf1/DanaCAF1) Genome Assembly (GenBank Accession: GCA_000005115.1 ) of Drosophila ananassae . This ortholog was characterized as part of a developing dataset to study the evolution of the Insulin/insulin-like growth factor signaling pathway (IIS) across the genus Drosophila using the Genomics Education Partnership gene annotation protocol for Course-based Undergraduate Research Experiences.

Journal Article↗

PubMed2025

Gene model for the ortholog of dock in Drosophila ananassae.

Gene model for the ortholog of dreadlocks ( dock ) in the May 2011 (Agencourt dana_caf1/DanaCAF1) Genome Assembly (GenBank Accession: GCA_000005115.1 ) of Drosophila ananassae . This ortholog was characterized as part of a developing dataset to study the evolution of the Insulin/insulin-like growth factor signaling pathway (IIS) across the genus Drosophila using the Genomics Education Partnership gene annotation protocol for Course-based Undergraduate Research Experiences.

Journal Article↗

PubMed2026

Pilot Evaluation of a Digital Pretest Education Platform for Genomic Counseling: Perspectives of Health Care Providers and Patients.

Traditional in-person consultations for genetic services create access barriers. We hypothesized that the Genetics Adviser platform-a web-based digital platform delivering clinical genomic services-could reduce these barriers. Focusing on pretest education and counseling, we tested a pilot version of the platform in medical genetics and pediatric endocrinology group practices. The multimethod design consisted of quantitative patient and caregiver surveys, Google Analytics data, and qualitative healthcare provider interviews. Surveys included validated measures of acceptability and empowerment. Transcribed interviews were thematically coded and analyzed using NVivo. Of the 102 patients and caregivers targeted for this study, 85/102 (83%) accessed the platform, 71/102 (70%) proceeded beyond the landing page, and 60/102 (59%) completed the post-module survey. Users expressed high confidence in genetic understanding and empowerment (Genomics Outcome Scale [GOS]: 77/100), and providers noted potential benefits and highlighted technological and content-related limitations. Further research is needed to validate effectiveness across diverse populations and to evaluate long-term impacts on patient outcomes and healthcare efficiency.

Humans↗

PubMed2026

Genomic science and the nurse educator's role: Promoting integration from curriculum to clinical practice.

BACKGROUND: Registered nurses and nurse educators play a critical role in preparing future clinicians to translate genomic discoveries into practice. However, emerging evidence suggests that both groups may lack sufficient knowledge and confidence in genomics, potentially limiting their ability to teach, mentor, and apply genomics in real-world settings. This gap is especially concerning in Aotearoa New Zealand, where the genomic literacy of nurse educators and clinicians remains underexplored. OBJECTIVE: This study aims to: (1) assess nurse educators' genomic literacy and confidence in teaching genomics; and (2) evaluate registered nurses' knowledge and confidence in applying and teaching genomics in clinical practice. DESIGN: Exploratory descriptive qualitative. SETTING: This study was conducted in the greater Auckland area. PARTICIPANTS: A total of 17 participants were recruited using purposive sampling to ensure a diverse range of perspectives across varying levels of teaching experience, disciplinary backgrounds, and exposure to genomic content. METHODS: Data were collected using semi-structured focus group interviews, a method well-suited for generating in-depth discussion and facilitating interaction among participants with shared professional interests. The collected data were analysed using thematic analysis methods. RESULTS: The findings offer insight into the preparedness of New Zealand's nursing workforce to engage with genomic-informed healthcare and inform strategies for integrating genomics into nursing curricula and continuing professional development. Given the interdisciplinary nature of genomic healthcare, these insights may also be relevant to other health professionals-including midwives, pharmacists, and allied health practitioners-who increasingly encounter genomic information in clinical practice and require foundational competencies to support patient care. CONCLUSION: Addressing this educational gap is critical to ensuring that nurses-key facilitators of patient care and public health-are equipped to deliver safe, equitable, and evidence-based genomic healthcare.

Humans↗

PubMed2024

Evaluation of the Master's in Genomic Medicine framework: A national, multiprofessional program to educate health care professionals in NHS England.

PURPOSE: Genomic medicine is revolutionizing health care but requires health care professionals to update their understanding of genomics and its application to clinical practice for successful implementation. To meet this need, Health Education England developed the Master's in Genomic Medicine, a national multiprofessional program to increase genomic literacy in the National Health Service workforce. This study summarizes an evaluation of the program, which will inform its future development. METHODS: Underpinned by Moore's evaluation framework, a mixed methods approach was used to characterize (1) learner demographics, (2) perceptions of the program, (3) knowledge and/or qualifications achieved, and (4) the outcome(s) for practice in the workplace. RESULTS: Learners were a diverse cohort of health care professionals, including doctors, health care scientists, nurses and midwives. Participant satisfaction was high for all elements of the program, including the curriculum, learning environment(s), and multiprofessional cohort(s), despite the challenges of engaging working professionals in part-time learning. Both learners and their managers reported enhanced genomic practice after completion of their studies. CONCLUSION: The Master's in Genomic Medicine program is an effective approach to professional education in genomic medicine. This broad multiprofessional learning complements training aimed at specific groups of health care professionals.

Humans↗

PubMed2024

Contribution of copy number variations to education, socioeconomic status and cognition from a genome-wide study of 305,401 subjects.

Educational attainment (EA), socioeconomic status (SES) and cognition are phenotypically and genetically linked to health outcomes. However, the role of copy number variations (CNVs) in influencing EA/SES/cognition remains unclear. Using a large-scale (n = 305,401) genome-wide CNV-level association analysis, we discovered 33 CNV loci significantly associated with EA/SES/cognition, 20 of which were novel (deletions at 2p22.2, 2p16.2, 2p12, 3p25.3, 4p15.2, 5p15.33, 5q21.1, 8p21.3, 9p21.1, 11p14.3, 13q12.13, 17q21.31, and 20q13.33, as well as duplications at 3q12.2, 3q23, 7p22.3, 8p23.1, 8p23.2, 17q12 (105 kb), and 19q13.32). The genes identified in gene-level tests were enriched in biological pathways such as neurodegeneration, telomere maintenance and axon guidance. Phenome-wide association studies further identified novel associations of EA/SES/cognition-associated CNVs with mental and physical diseases, such as 6q27 duplication with upper respiratory disease and 17q12 (105 kb) duplication with mood disorders. Our findings provide a genome-wide CNV profile for EA/SES/cognition and bridge their connections to health. The expanded candidate CNVs database and the residing genes would be a valuable resource for future studies aimed at uncovering the biological mechanisms underlying cognitive function and related clinical phenotypes.

Humans↗

PubMed2025

Transforming Medical Education to Make Patient Safety Part of the Genome of a Modern Health Care Worker.

Medical education has not traditionally recognized patient safety as a core subject. To foster a culture of patient safety and enhance psychological safety, it is essential to address the barriers and facilitators that currently impact the development and delivery of medical education curricula. The aim of including patient safety and psychological safety competencies in education curricula is to insert these into the genome of the modern health care worker.

Patient Safety↗

PubMed2025

Implementing a training resource for large-scale genomic data analysis in the All of Us Researcher Workbench.

A lack of representation in genomic research and limited access to computational training create barriers for many researchers seeking to analyze large-scale genetic datasets. The All of Us Research Program provides an unprecedented opportunity to address these gaps by offering genomic data from a broad range of participants, but its impact depends on equipping researchers with the necessary skills to use it effectively. The All of Us Biomedical Researcher (BR) Scholars Program at Baylor College of Medicine aims to break down these barriers by providing early-career researchers with hands-on training in computational genomics through the All of Us Evenings with Genetics Research Program. The year-long program begins with the faculty summit, an in-person computational boot camp that introduces scholars to foundational skills for using the All of Us dataset via a cloud-based research environment. The genomics tutorials focus on genome-wide association studies (GWASs), utilizing Jupyter Notebooks and the Hail computing framework to provide an accessible and scalable approach to large-scale data analysis. Scholars engage in hands-on exercises covering data preparation, quality control, association testing, and result interpretation. By the end of the summit, participants will have successfully conducted a GWAS, visualized key findings, and gained confidence in computational resource management. This initiative expands access to genomic research by equipping early-career researchers from a variety of backgrounds with the tools and knowledge to analyze All of Us data. By lowering barriers to entry and promoting the study of representative populations, the program fosters innovation in precision medicine and advances equity in genomic research.

Humans↗

PubMed2026

A cross-sectional study of genomic knowledge comfort, attitudes, ethical and educational perspectives on precision medicine among medical students in Ecuador.

BACKGROUND: Precision medicine is increasingly transforming clinical practice, yet its effective implementation depends on adequately trained healthcare professionals. OBJECTIVE: This study assessed genomic knowledge comfort, attitudes, ethical perceptions, and educational perspectives regarding precision medicine among medical students in Samborondón, Greater Guayaquil, Ecuador. METHODS: A cross-sectional survey was conducted between August and November 2025 using a structured questionnaire. A total of 340 students participated. Descriptive and inferential statistical analyses, including non-parametric tests and Spearman correlation, were performed. RESULTS: Participants demonstrated relatively high but uneven genomic knowledge comfort (median 81.3%) and positive attitudes toward precision medicine (65.6%), alongside moderate ethical (62.5%) and educational perception scores (68.8%). While students strongly recognized the importance of precision medicine, perceived preparedness remained limited. Lower confidence was observed in advanced topics such as pharmacogenomics and next-generation sequencing. Ethical concerns were more pronounced at the societal level, particularly regarding health inequities, rather than individual risks. Correlation analyses revealed generally weak associations across domains, with only a moderate relationship between ethical and educational perceptions. CONCLUSION: These outcomes highlight a gap between acceptance and readiness, suggesting fragmented competency development. Strengthening curricula through integrated, applied, and context-specific training is essential to support effective implementation of precision medicine in low- and middle-income settings.

Attitudes↗

PubMed2026

Health Service Delivery Outcomes From Nursing in Genomics: A Scoping Review of the Literature (2012-2025).

AIM: This study aimed to summarize the current state of the science for "health service delivery-oriented outcomes" from nursing in genomics (2012-2025). BACKGROUND: Nurses can play a vital role in increasing access to genomic healthcare and improving outcomes for patients, families, and communities. METHODS: We conducted a scoping review of the literature in four databases (2012-2025). Articles were categorized using the Cochrane Collaboration outcome domains and sub-domains to identify salient topics and synthesize findings. RESULTS: Of 11,646 retrieved articles, 66 publications reporting "health service delivery-oriented outcomes" were included for analysis. Identified articles spanned three sub-domains: "service delivery level," "related to research," and "societal or governmental." Within sub-domains, articles were further categorized into dimensions, the most prominent being "service utilization" under the "service delivery level" sub-domain. Studies were primarily from anglophone countries and near-evenly split into interventional and noninterventional studies. Studies reported that nurses working in multidisciplinary and/or interprofessional teams are a cost-effective means to increase access to genomic healthcare and reduce burden on genetic specialists. Nurses are incorporating genomics in various settings, including oncology, pharmacogenomics, genetic counseling, rare genetic diseases, and symptom science. CONCLUSION: Despite evidence of nurses contributing to health system delivery-oriented outcomes, evidence suggests that nurses are underutilized and underprepared in genomic healthcare. IMPLICATIONS FOR NURSING: A significant barrier to integrating genomics into nursing practice is a lack of foundational knowledge and genomic competency across nursing education, clinical practice, and nursing policymakers. IMPLICATIONS FOR NURSING POLICY: Nursing leadership spanning education, research, practice, and policy domains will be critical for integrating genomics in nursing practice and improving health system delivery-oriented outcomes.

Humans↗