A multidisciplinary perspective on advancing genomic nursing in Portugal: roles, barriers and system-level solutions

从多学科视角探讨葡萄牙基因组护理的发展:角色、障碍和系统层面的解决方案

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Abstract

The rapid expansion of genomic science has reshaped healthcare delivery, creating new demands for interdisciplinary collaboration and highlighting the need to integrate genomics into nursing practice and education. This qualitative study explored how multidisciplinary genomic specialists, including medical geneticists, genetic counsellors and nurses, conceptualize nurses’ roles in genomic healthcare and the conditions required for effective integration in Portugal. Two online focus groups (n = 10) were conducted and the data were analyzed using Reflexive Thematic Analysis, following Braun and Clarke’s framework. Through an iterative and interpretive process, three themes capturing patterns of shared meaning were developed: the role of nurses in genomic teams, barriers to integrating genomics in nursing education and practice, and systemic and organizational solutions for genomic integration. Participants viewed nurses as pivotal to ensuring continuity, coordination and person- and family-centered care within genomic pathways. However, integration remains constrained by limited genomic literacy, fragmented educational provision, lack of regulatory recognition and insufficient institutional support. Participants highlighted the need for structured and longitudinal genomic education across undergraduate, postgraduate and continuing professional development levels, supported by clear role delineation, clinical supervision and professional recognition. They also emphasized advocacy and policy alignment as essential to building the infrastructure required for sustainable genomic nursing practice. Advancing nursing genomics in Portugal will require coordinated educational, organizational and regulatory reform, with nurses positioned as key contributors to equitable and person-centered genomic care. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12687-026-00861-3.

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