The rapid advancement of genomic technology and its increasing integration into healthcare has created a surge in demand for genomic testing and counseling, exceeding the capacity of existing clinical genetics services. To address this, alternative models of care are emerging, involving genetic counselors (GCs) working in various non-traditional settings such as primary care, cancer care, and pediatric arrhythmia clinics. In these new roles, GCs have demonstrated positive impacts on patient outcomes, including improved referral and uptake of genetic testing, enhanced compliance with guideline-based care, reduced wait times, and increased health system efficiency. They also contribute to educating and supporting medical specialists in managing genomic information and patient care. However, limited research exists on GCs' experiences in these new roles, particularly across multiple specialties. This study addresses this gap by exploring the views and experiences of GCs working as 'genomic change agents' within a single Australian health system, focusing on their perspectives on new models of delivering genomic testing and counseling, and the factors that facilitate or hinder their success.

Existing literature reveals the benefits of GCs working outside clinical genetics services, with studies showing improvements in patient access, reduced wait times, and enhanced specialist capabilities. However, these studies often focus on single specialties. Research in the UK highlighted both the interesting and challenging aspects of GCs’ roles in primary care, noting anxieties about managing a high volume of queries and limited career progression. Other studies identified increased workloads and a lack of clinician understanding about the value of genomics as major obstacles for GCs. This study expands on this limited research by examining GCs' experiences across multiple specialties within a single health system, using a theoretical framework that explores their role as change agents in driving the adoption of genomics into mainstream care.

This qualitative study, informed by Rogers' Diffusion of Innovations (DOI) theory and Greenhalgh et al.'s model of diffusing innovations in healthcare, utilized semi-structured interviews with all twelve GCs employed by a change program in Australia. The program established innovative genomic care models in neurology, nephrology, hematology, transplant, and cardiology. Ethics approval was obtained from the Royal Melbourne Hospital and the University of Melbourne. Interviews were conducted online, via phone, or in person by a researcher who was not a GC. An interview schedule with open-ended questions explored participants' understanding of genomics mainstreaming, their role in the specialties, and perceived barriers and enablers. Interviews (30-50 minutes each) were audio-recorded, transcribed verbatim, and analyzed using inductive content analysis in NVIVO 14.0. A subset of transcripts were independently coded by a co-author, and the team met regularly to discuss coding differences and reach consensus on a code structure. The final categories and subcategories and their relationships were then identified.

Participants held diverse understandings of "genomics mainstreaming." Some defined it as medical specialists independently handling all aspects of genomics, minimizing the GC's role. Others viewed mainstreaming as a collaborative effort involving both genetic and non-genetic specialists, with GCs playing a central supportive role. Despite these differing interpretations, all participants acknowledged the significant value of their roles in improving patient outcomes. Key benefits included a substantial reduction in patient wait times for genomic testing and counseling, and the potential to establish a new standard of care by replicating successful oncology models. GCs also highlighted their contributions to enhancing communication between genetic services and other medical specialists, and educating specialists on the relational aspects of genetic counseling. Several barriers were identified, including: 1) Hesitancy of some medical specialists towards integrating genomics into their practice; 2) Differences in professional perspectives and practices between genetic and non-genetic specialists, leading to potential tensions and concerns about the standard of patient care; 3) Logistical challenges such as administrative tasks and lack of designated workspace; and 4) The difficulties of balancing dual roles (working in both genetics services and the specialist clinics). Enablers for successful GC integration included: 1) GCs' proactive communication and gentle challenges to established practices; 2) Clarity regarding the scope of GCs' roles; 3) Medical specialists actively participating in shaping the new care models; 4) Strong leadership support and endorsement; and 5) Peer connection and support among GCs in similar roles.

The study's findings highlight the lack of a unified definition of genomics mainstreaming and the resulting challenges for GCs in navigating their evolving roles. The varying interpretations among participants underscore the need for clearer guidelines and shared understanding to facilitate collaboration and achieve a common goal. The frequent reference to oncology models suggests a need for more research and evidence on effective mainstreaming strategies in other specialties. The identified barriers highlight the importance of addressing medical specialist hesitancy toward genomics and managing the differences in professional perspectives and practices. This requires fostering effective interprofessional communication, education, and negotiation to establish shared expectations and ensure a high standard of patient care. Successful implementation requires a multi-faceted approach, encompassing both practical support and a strong focus on relational dynamics and negotiation among different stakeholders.

This study offers valuable insights into the evolving roles of GCs in mainstreaming genomics. The findings emphasize the need for a clearer definition of GCs' roles, stronger leadership support, and robust peer networks to facilitate successful integration into specialist settings. Future research should focus on strategies to address medical specialist hesitancy, manage interprofessional tensions, and develop best practices for GCs working across various specialties. Establishing a community of practice for GCs can provide ongoing support and opportunities for knowledge sharing and professional development.

This study's participants were GCs employed in new roles funded by specific projects. Their experiences may not fully represent the broader population of GCs working in specialist settings through typical funding pathways. The study's findings, while valuable, should be considered in light of this potential limitation.