Delivery of nurse-led genetic counselling within RINMD: Healthcare professionals reported practices and experiences- a scoping review

This project is a scoping review that aims to systematically map and synthesise the existing evidence on the delivery of nurse-led genetic counselling within rare inherited neuromuscular disease (RINMD) services. Advances in genomic medicine and expanded access to genetic testing have substantially increased demand for genetic counselling across rare disease pathways. Within neuromuscular services, specialist nurses and advanced nursing roles are increasingly involved in genetic counselling activities; however, the nature, scope, governance, and evaluated outcomes of these nurse-led models remain poorly defined and inconsistently reported in the literature. The primary purpose of this review is to provide a comprehensive overview of how nurse-led genetic counselling is currently delivered in RINMD clinical settings, focusing on reported practices, professional roles, and healthcare professionals’ experiences. Specifically, the review addresses three core questions: 1. how nurse-led genetic counselling is delivered in practice within rare inherited neuromuscular disease pathways; 2. what factors influence the implementation and governance of these services, including training requirements, competencies, supervision arrangements, and service delivery structures; and 3. what outcomes or impacts of nurse-led genetic counselling models have been evaluated at professional, service, or patient levels. The review adopts a Population–Concept–Context (PCC) framework. The population of interest includes healthcare professionals delivering or contributing to nurse-led genetic counselling in RINMD pathways, such as specialist neuromuscular nurses, genetic or genomic nurses, advanced nurse practitioners, nurse consultants, and clinical nurse specialists. The concept of interest is nurse-led or nurse-delivered genetic counselling, defined broadly to include activities such as obtaining consent for genetic testing, communicating and supporting disclosure of genetic results, providing education on inheritance and recurrence risk, offering psychosocial support, facilitating cascade testing and family communication, and coordinating referrals and follow-up. The context includes any clinical setting involved in the care of individuals with rare inherited neuromuscular diseases, including tertiary neuromuscular centres, specialist clinics, genomic medicine services, and multidisciplinary inherited disease services across both adult and paediatric care. This scoping review follows Joanna Briggs Institute (JBI) methodology and will be reported in accordance with the PRISMA-ScR guidelines. A comprehensive search strategy, developed in collaboration with an experienced academic librarian, will be applied across multiple bibliographic databases (including MEDLINE, Embase, CINAHL, PsycINFO, Scopus, and Web of Science), alongside structured grey literature searching. Eligible sources will include qualitative, quantitative, and mixed-methods studies, implementation studies, service evaluations, audits, policy reports, and relevant theses. Data will be charted using a standardised extraction form to capture study characteristics, service models, nursing roles, genetic counselling activities, training and governance structures, implementation facilitators and barriers, and reported outcomes. The expected outcomes of this project are: - a detailed mapping of existing nurse-led genetic counselling models within rare inherited neuromuscular disease services; - improved clarity around nursing roles, scopes of practice, and professional experiences in genomic counselling delivery; - identification of reported training pathways, competency frameworks, and governance or supervision arrangements; - synthesis of facilitators, barriers, and implementation challenges affecting service development; and - identification of key evidence gaps where further empirical research is required. The findings are expected to inform NHS workforce development, service design, and governance of nurse-led genetic counselling models within neuromuscular and genomic medicine services. Dissemination will include reporting to the NIHR Oxford Biomedical Research Centre, presentation at academic and clinical conferences, publication in a peer-reviewed journal, and sharing with professional nursing and genomic medicine networks. Ultimately, this work aims to support safe, sustainable, and evidence-informed expansion of nurse-led genetic counselling within rare disease pathways.