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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

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

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

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

Translating evidence into practice: Developing Canada's first position statement on genomics-informed oncology nursing.

The integration of genomics in oncology care is accelerating in Canada, presenting new opportunities for nurses to improve cancer outcomes through enhanced screening, diagnosis, and targeted therapies. However, nurses have identified that they require policy guidance to clarify their roles and responsibilities as members of interprofessional teams delivering genomic services. In response, the Canadian Nursing and Genomics Initiative, in collaboration with the Canadian Association of Nursing in Oncology/Association Canadienne des Infirmières et Infirmiers en Oncologie, and an interdisciplinary working group developed the first pan-Canadian position statement to guide genomics-informed oncology nursing practice. To support further engagement and use of the position statement, we outline the rationale for developing the position statement and the role of position statements in supporting nursing practice and innovation in genomics-informed oncology nursing. We describe the governance structure and co-design methodology that facilitated its collaborative interdisciplinary development, and how this approach is critical for nursing advocacy, integrated knowledge translation, and ongoing engagement. Finally, we offer recommendations for oncology nurses to translate the position statement into practice changes. This position statement is a preliminary step toward advancing genomics integration in cancer care and ensuring nursing practice remains at the forefront of innovation.

genetics

The role of microbial genomics in delivering the UK's national action plan for confronting antimicrobial resistance 2024-29.

Antimicrobial resistance (AMR) is a major threat to human and animal health, in addition to environmental resilience. Countries set the agenda on their national action against AMR in the form of National Action Plans (NAPs), with the UK's latest NAP released in May, 2024. Advances in genomics have strengthened our ability to work towards NAP priorities; however, to date, no mapping of the role genomics plays in contributing to specific goals within the NAP has been undertaken. The UK Research and Innovation-funded Transdisciplinary Antimicrobial Resistance Genomics Network brought together a range of stakeholders to discuss the role of genomics for action on AMR and to deliver policy priority-led research, as outlined in the UK NAP 2024-29. We report our discussions in this Personal View, with key roles for genomics, including informing targeted stewardship in health-care settings, supporting AMR literacy, and supporting effective antimicrobial innovation. However, changes in infrastructure, communication, and cross-sector coordination are needed to support implementation.

United Kingdom

Genetically Modified and Gene-Edited Organisms-Objectives, Public Perception and Applications.

Genetic modification and genome editing have become important tools in agriculture, animal production, biotechnology, and human medicine, but their safety and societal acceptance remain subjects of debate. This review examines genetically modified (GM) and gene-edited organisms, distinguishing transgenesis from precision genome editing technologies, including CRISPR/Cas9, base editing, and prime editing. Representative applications in crops, livestock, pharmaceutical production, and xenotransplantation are discussed, together with their regulatory framework and public perception. Current scientific assessments indicate that approved GM foods are not inherently more hazardous to human health than their conventional counterparts when evaluated case by case. Potential benefits include improved nutritional quality, biofortification, disease resistance, increased agricultural efficiency, production of therapeutic proteins, and applications in animal health and medicine. Possible concerns include allergenicity, toxicity, unintended genetic or phenotypic effects, altered nutritional composition, environmental consequences, animal welfare issues, and uncertainties associated with long-term or large-scale deployment. Public acceptance varies substantially according to geographical region, application, cultural and ethical considerations, regulatory environment, scientific literacy, and institutional trust. Overall, GM and gene-edited organisms should not be considered a homogeneous category. Their benefits, risks, and societal acceptability depend on the specific organism, genetic modification, intended trait, and context of use, supporting a balanced, evidence-based, and case-specific approach.

acceptance

A translational framework for early-phase inner-ear gene therapy: clinical trial design, regulatory strategy, and ethical considerations.

PURPOSE OF REVIEW: Hereditary hearing loss has historically been approached as a diagnostic category rather than a therapeutically modifiable disease. Recent advances in molecular genetics, cochlear gene delivery, and first-in-human clinical trials are changing that. This review summarizes contemporary progress in the genetics of hearing loss, with emphasis on emerging gene-based therapies, clinical trial design, regulatory and ethical considerations, and practical implications for otolaryngologists as biologic treatment enters clinical practice. RECENT FINDINGS: Early clinical trials targeting OTOF -related DFNB9 deafness have demonstrated satisfactory safety profiles and meaningful auditory recovery, establishing the first proof-of-concept for cochlear gene therapy in humans, culminating in the April 2026 FDA approval of Otarmeni. Genetic diagnoses are increasingly informing prognosis, cochlear implant counseling, and therapeutic candidacy. Preclinical research continues to expand toward recessive, dominant, and syndromic hearing loss using gene replacement, antisense, RNA interference, and genome-editing strategies. Substantial challenges remain, including heterogeneous outcome measures, uncertain long-term efficacy, regulatory complexity, and inequitable global access. SUMMARY: The genetics of hearing loss is transitioning from a diagnostic modality to an interventional one. Widespread clinical impact will require advances in vector engineering, equitable implementation, multidisciplinary counseling, and integration with established rehabilitation pathways. For otolaryngologists, genetic literacy is becoming essential to contemporary hearing care.

Humans

Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.

PURPOSE: Limited evidence evaluates parents' perceptions of their child's clinical genome-scale sequencing (GS) results, particularly among individuals from medically underserved groups. Five Clinical Sequencing Evidence-Generating Research consortium studies performed GS in children with suspected genetic conditions with high proportions of individuals from underserved groups to address this evidence gap. METHODS: Parents completed surveys of perceived understanding, personal utility, and test-related distress after GS result disclosure. We assessed outcomes' associations with child- and parent-related factors: child age; type of GS finding; and parent health literacy, numeracy, and education. RESULTS: A total of 1763 parents completed surveys; 83% met "underserved" criteria based on race, ethnicity, and risk factors for barriers to access. We observed high perceived understanding and personal utility and low test-related distress. Outcomes were associated with the type of GS finding; parents of children with a pathogenic or likely pathogenic finding endorsed higher personal utility and more test-related distress than those whose children had a variant of uncertain significance or normal finding. Personal utility was higher in parents who met the criteria for "underserved." CONCLUSION: Our findings shed light on correlates of parents' cognitive and emotional responses to their child's GS findings and emphasize the need for tailored support in disclosure discussions.

Humans

Artificial intelligence in healthcare and medicine: clinical applications, therapeutic advances, and future perspectives.

Healthcare systems worldwide face growing challenges, including rising costs, workforce shortages, and disparities in access and quality, particularly in low- and middle-income countries. Artificial intelligence (AI) has emerged as a transformative tool capable of addressing these issues by enhancing diagnostics, treatment planning, patient monitoring, and healthcare efficiency. AI's role in modern medicine spans disease detection, personalized care, drug discovery, predictive analytics, telemedicine, and wearable health technologies. Leveraging machine learning and deep learning, AI can analyze complex data sets, including electronic health records, medical imaging, and genomic profiles, to identify patterns, predict disease progression, and recommend optimized treatment strategies. AI also has the potential to promote equity by enabling cost-effective, resource-efficient solutions in low-resource and remote settings, such as mobile diagnostics, wearable biosensors, and lightweight algorithms. Successful deployment requires addressing critical challenges, including data privacy, algorithmic bias, model interpretability, regulatory oversight, and maintaining human clinical oversight. Emphasizing scalable, ethical, and evidence-driven implementation, key strategies include clinician training in AI literacy, adoption of resource efficient tools, global collaboration, and robust regulatory frameworks to ensure transparency, safety, and accountability. By complementing rather than replacing healthcare professionals, AI can reduce errors, optimize resources, improve patient outcomes, and expand access to quality care. This review emphasizes the responsible integration of AI as a powerful catalyst for innovation, sustainability, and equity in healthcare delivery worldwide.

Humans

Tobacco, nicotine, and cannabis use and exposure in an Australian Indigenous population during pregnancy: A protocol to measure parental and foetal exposure and outcomes.

BACKGROUND: The Australian National Perinatal Data Collection collates all live and stillbirths from States and Territories in Australia. In that database, maternal cigarette smoking is noted twice (smoking <20 weeks gestation; smoking >20 weeks gestation). Cannabis use and other forms of nicotine use, for example vaping and nicotine replacement therapy, are nor reported. The 2021 report shows the rate of smoking for Australian Indigenous mothers was 42% compared with 11% for Australian non-Indigenous mothers. Evidence shows that Indigenous babies exposed to maternal smoking have a higher rate of adverse outcomes compared to non-Indigenous babies exposed to maternal smoking (S1 File). OBJECTIVES: The reasons for the differences in health outcome between Indigenous and non-Indigenous pregnancies exposed to tobacco and nicotine is unknown but will be explored in this project through a number of activities. Firstly, the patterns of parental and household tobacco, nicotine and cannabis use and exposure will be mapped during pregnancy. Secondly, a range of biological samples will be collected to enable the first determination of Australian Indigenous people's nicotine and cannabis metabolism during pregnancy; this assessment will be informed by pharmacogenomic analysis. Thirdly, the pharmacokinetic and pharmacogenomic findings will be considered against maternal, placental, foetal and neonatal outcomes. Lastly, an assessment of population health literacy and risk perception related to tobacco, nicotine and cannabis products peri-pregnancy will be undertaken. METHODS: This is a community-driven, co-designed, prospective, mixed-method observational study with regional Queensland parents expecting an Australian Indigenous baby and their close house-hold contacts during the peri-gestational period. The research utilises a multi-pronged and multi-disciplinary approach to explore interlinked objectives. RESULTS: A sample of 80 mothers expecting an Australian Indigenous baby will be recruited. This sample size will allow estimation of at least 90% sensitivity and specificity for the screening tool which maps the patterns of tobacco and nicotine use and exposure versus urinary cotinine with 95% CI within &#xb1;7% of the point estimate. The sample size required for other aspects of the research is less (pharmacokinetic and genomic n = 50, and the placental aspects n = 40), however from all 80 mothers, all samples will be collected. CONCLUSIONS: Results will be reported using the STROBE guidelines for observational studies. FORWARD: We acknowledge the Traditional Custodians, the Butchulla people, of the lands and waters upon which this research is conducted. We acknowledge their continuing connections to country and pay our respects to Elders past, present and emerging. Notation: In this document, the terms Aboriginal and Torres Strait Islander and Indigenous are used interchangeably for Australia's First Nations People. No disrespect is intended, and we acknowledge the rich cultural diversity of the groups of peoples that are the Traditional Custodians of the land with which they identify and with whom they share a connection and ancestry.

Adult