Cracking the (genomic) code: a mixed-methods exploration of genomic knowledge, practice and implementation in nursing and midwifery

Abstract

Background The Human Genome Project completed the first sequence of the human genome in 2003, ushering in a period of scientific discovery that was to change the world. Genomic scientific discoveries applied to the field of human health are rapidly altering the landscape of healthcare; offering opportunities for advanced diagnostics, targeted interventions, enhanced screening, and treatments tailored to the needs of the individual. Delivering the full potential of genomic healthcare to the public requires a prepared healthcare professional workforce. Nurses and midwives are the largest healthcare professional group globally (Kharazmi, Bordbar and Bordbar, 2023) therefore it is imperative that these healthcare professionals have the underpinning knowledge and skills in genomics which translate into competent nursing and midwifery practice. However, despite ongoing efforts to integrate genomics into nursing and midwifery practice following the completion of the Human Genome Project in 2003, there has been little evidence of progress toward this goal: poor understanding of genomic concepts, a lack of integration in preparatory curricula, and low confidence to use genomic information or skills remain an enduring professional challenge across education and practice (Thomas et al., 2023; Dante et al., 2025). Methods The aim of this thesis was to explore genomic knowledge, professional practice and implementation in contemporary nursing and midwifery across education and practice. A convergent mixed methods approach was employed to meet the aim of the thesis which consisted of 3 studies: a scoping literature review, a quantitative knowledge survey study, and a qualitative interview study. These studies were used to meet the following objectives: 1. Map out the current evidence of nurses and midwives using genomics by using a scoping evidence review methodology, with Normalisation Process Theory (NPT) acting as a heuristic lens to understand genomic implementation across education and practice. 2. Assess the understanding of core genomic concepts of students in pre-preparatory and post-preparatory healthcare professional education using a validated knowledge assessment tool, exploring differences between groups and participant characteristics. 3. Explore the experiences of nurses and midwives who are exemplars of genomics in nursing and midwifery practice, using reflexive thematic analysis to generate insights from professional lived experiences. Study data were analysed separately, and findings were synthesised and integrated to create a conceptual model. Results Findings from study 1 indicated that the integration and implementation of genomics in nursing and midwifery is inconsistent, and despite benefits to patients and healthcare services the literature showed a persistent lack of clarity over expectations of roles and responsibilities, the knowledge and skills required, and alignment between patient expectations and needs and the genomic practice of nurses and midwives. Despite over a decade of educational interventions to improve genomic implementation, nurses and midwives continue to report low levels of genomic knowledge across education and practice settings and lack the confidence and competence to translate knowledge into clinical practice. In a higher education setting, students in study 2 reported little exposure in education and clinical practice settings, and exposure did not appear to have an effect on their score. The genomic knowledge of healthcare students who were on the precipice of entering the workforce was observed to be low, as was the genomic knowledge of practicing healthcare professionals who were undertaking specialist advanced practice qualifications. Core biological science concepts were the conceptual area in which students had the lowest scores while concepts related to direct clinical skills were the conceptual area with the highest scores, suggesting that bioscience genomic knowledge was disconnected from practice applications for students. In study 3, nurses and midwives who use genomics as a core part of their role described genomics as a conceptual knowledge domain that did not belong within the boundaries of nursing and midwifery knowledge and practice. Their access to and use of genomics in clinical practice was contingent on the gatekeepers to whom genomics was perceived to rightfully belong, limiting their participation in genomics as a community of practice to the periphery and constraining any further movement towards fuller participation. There were conflicting messages about the importance and legitimacy of genomics in their clinical practice, with tacit expectations for them to operationalise knowledge they felt they did not fully understand, yet little prioritisation of their learning needs and logistical and systemic barriers which prevented deeper engagement and further professional development. Conclusion The results of these studies were synthesised and integrated resulting in the creation of a conceptual model of the factors which operate in a cyclical fashion and inhibit the integration of genomics across nursing and midwifery education and professional practice. The individual points of the cycle perpetuate a perception of epistemic incompatibility between genomics and the professional knowledge and identity of nurses and midwives. The conceptual model of the inhibitory cycle represents an original contribution to knowledge on this subject, and strength-based recommendations are made which address the individual points of the cycle. These recommendations can be used to guide genomic education and continuing professional development for nurses and midwives in both pre-registration and post-registration education and practice settings, which can contribute to the increased adoption, integration, and utilisation of genomics by these key professional groups.