Becoming agents for genomic change: genetic counsellors' views of patient care and implementation influences when genomics is mainstreamed

Genomic sequencing is increasingly integrated into healthcare to improve risk prediction, diagnosis, and treatment for common and rare conditions, creating growing demand that exceeds the capacity of clinical genetics services. Alternative models of care are emerging, often involving genetic counsellors (GCs) embedded in non-genetic specialties. Prior reports show GCs can improve testing uptake, reduce wait times and costs, and support medical specialists with education and case management. However, little is known about GCs’ experiences and roles as genomics is mainstreamed across specialties, beyond single-specialty accounts. This study explores how GCs perceive their roles as genomic change agents, their conceptualizations of mainstreaming genomics, and the barriers and enablers influencing implementation within a single Australian health system across five specialties (neurology, nephrology, haematology, transplant, cardiology). Understanding these perspectives is important for shaping effective and sustainable models that integrate genomics into routine specialist care and for clarifying GCs’ evolving professional identity.

Existing studies describe GCs transitioning beyond clinical genetics into primary care, oncology, paediatric arrhythmia clinics, and inpatient settings, contributing to improved referral pathways, adherence to guidelines, reduced wait times, expedited treatment decisions, cost savings, and enhanced support for non-genetic clinicians. UK-based and other international studies highlight benefits (autonomy, specialty expertise) and recurrent challenges: limited career progression, isolation, unmanageable workloads (especially in dual roles), clinicians’ limited understanding of genomics’ value, and unclear expectations of GC roles. Much literature focuses on single specialties, particularly oncology, leaving a gap in understanding GC experiences and change-agency functions across diverse specialties. Implementation frameworks like Diffusion of Innovations (DOI) identify change agents as critical, yet their roles are under-described in practice. This study responds to these gaps by examining GCs’ views across multiple specialties within one health system.

Design and framework: Qualitative study guided by Rogers’ Diffusion of Innovations theory and Greenhalgh et al.’s model for healthcare innovation diffusion, focusing on innovation attributes and the role of change agents. Setting and context: Australia’s mixed public-private healthcare system; publicly funded genetic services accessible when testing is medically appropriate. GCs predominantly work in public clinical genetics, with emerging roles in specialties and private clinics. GCs complete a two-year Master’s (or earlier Graduate Diploma) and may become Certified after accreditation. Ethics: Approved by Royal Melbourne Hospital HREC (HREC/80793/MH-2021) and University of Melbourne (2023-26642-40071-3). Participants and roles: All 12 GCs employed by a change program to support genomics in five specialties (neurology, nephrology, haematology, transplant, cardiology) were recruited. Cases spanned single and multi-site models led by genetic professionals or medical specialists, aiming for varying levels of genomics adoption. Case participation: A (n=1), B (n=1), C (n=3), D (n=6), E (n=1). GCs were seconded part-time to specialty clinics for 12 or 18 months while retaining affiliation with clinical genetics. Scope varied from direct patient care to upskilling specialists (advice on testing, education, MDT meetings, support line) and research-related tasks. Data collection: Semi-structured interviews (30–50 minutes), conducted by the first author (not a GC) via Zoom/phone/in person. Interviews explored definitions of mainstreaming, GC role conceptualization, and perceived barriers/enablers. Audio-recorded, transcribed verbatim. Analysis: Inductive content analysis using NVivo 14. Initial broad coding by the first author, followed by line-by-line refinement into subcategories. A subset of three transcripts independently coded by a co-author. The team met regularly to reconcile interpretations within the DOI framework and agreed on a final coding structure, which was applied across all transcripts to identify final categories, subcategories, and relationships. Sample characteristics: 10 women and 2 men. Years of GC experience: <5 years (n=3), 5–9 years (n=5), ≥10 years (n=4). Certification: Certified (n=8), Associate (n=4). Primary affiliation: public genetics department (n=11), private service (n=1). Specialty clinic time per week: ≤1.5 days (n=4), 2–2.5 days (n=5), 3 days (n=3).

Understanding of mainstreaming: Participants held varied conceptualizations of genomics mainstreaming. Some framed it as non-genetic medical specialists independently managing testing and consent, with GCs only as optional support. Others emphasized mainstreaming as offering genomics outside genetics services while keeping GCs actively involved to support complex cases. Some explicitly included embedded GC models within specialist clinics as mainstreaming, describing a collaborative, multi-actor approach. Perceived value of GC roles:

• For patients: Anticipated reduced wait times (from typical 5–9 months for genetics referral to about 1–2 weeks when managed in specialty clinics), improved continuity of care, altered routine care with broader access to genomics, enhanced comfort and overall experience, and correction of misconceptions about genetics services.
• For medical specialists: Improved confidence and capability in integrating genomics, strengthened cross-specialty communication, and progression toward greater autonomy over time (with GCs fading into the background as specialists grow competent). Barriers:
• Hesitancy and resistance among some medical specialists regarding the utility and workload associated with genomics, leading to limited engagement with GCs.
• Differences in professional perspectives and practice between genetic and non-genetic clinicians (e.g., family-centered care, psychosocial focus), creating tensions in consent and result disclosure, and concerns about declining standards (e.g., missed cascade testing, misinterpretation, or suboptimal gene selection).
• Implementation fit challenges when a single model was applied across multiple sites with differing local contexts, potentially threatening sustainability.
• Logistical obstacles: administrative burden of grants, lack of designated workspace, difficulty protecting time while juggling dual roles between genetics and specialty clinics, and feelings of isolation as the sole genetics professional in specialty settings.
• Education gaps: difficulty ascertaining specialists’ baseline genomics knowledge; risks of missing interpretive nuance when specialists manage results without genetics input. Enablers:
• Interprofessional collaboration and clear role delineation for GCs and specialists (e.g., GCs as decision-making facilitators, not merely testing facilitators).
• Responsiveness to local needs (e.g., clinicians determining optimal timing; tailoring feedback channels), and specialists’ momentum in orienting model delivery.
• Leadership endorsement (e.g., clinic heads signaling importance), facilitating GC integration and team receptivity.
• Ready access to project leads and genetics/specialist supervisors for complex cases.
• Peer connection among GCs in similar roles to provide emotional support, implementation problem-solving, and shared learning; calls to establish a GC community of practice. Notable details: 12 GCs interviewed across five specialties; interviews 30–50 minutes; varied case models (A–E) with different leadership and adoption goals. Participants anticipated patient wait-time reductions from months to weeks and highlighted oncology mainstreaming as a precedent for standard-of-care shifts in other specialties.

The study illuminates how GCs perceive and enact their roles as change agents in mainstreaming genomics across specialties, using the Diffusion of Innovations lens. A lack of a shared definition of mainstreaming—ranging from specialist-led independence to GC-embedded collaboration—may hinder alignment on goals and messaging to medical specialists. Participants frequently drew on oncology mainstreaming precedents, underscoring the limited availability of models outside oncology and the need to develop and publish alternative GC-led or GC-integrated models in other specialties. Key impediments include medical specialists’ hesitancy about genomics’ relevance and workload implications, and differing professional paradigms (e.g., family-centered, psychosocially informed genetic care versus disease-focused specialty practice). These tensions risk compromising consent, result communication, and cascade testing. Negotiating a shared understanding of what high-quality genomic care looks like in each specialty and allowing for reinvention to fit local contexts are crucial to sustainment. GCs, as change agents, can model relational and interpretive competencies while remaining flexible to specialty workflows. Facilitators include visible leadership endorsement, which signals importance and creates a receptive environment; peer networks for GCs that buffer isolation and accelerate learning; and clear role delineations that position GCs as decision-making facilitators. The authors established a community of practice to support ongoing peer exchange and competence building. Overall, findings underscore that implementation success depends not only on individual GC efforts but also on organizational support, interprofessional collaboration, and context-sensitive adaptation.

This study advances understanding of genetic counsellors’ evolving roles as change agents in mainstreaming genomics across specialist care. Participants highlighted variability in definitions of mainstreaming, substantial potential to improve patient access and specialist capability, and key barriers (specialist hesitancy, inter-professional tensions, logistical and educational challenges). Enablers include leadership endorsement, clear role delineation, collaborative tailoring to local contexts, and strong peer networks. The findings inform implementation strategies and competency needs for GCs transitioning into specialty settings. Future research should investigate misalignments in perspectives among innovators, change agents, and adopters, and examine relational dynamics that influence adoption and sustainment, alongside generating evidence from diverse specialties beyond oncology.

Participants were employed in structured, grant-funded mainstreaming roles, which may not represent GCs working in specialties through typical funding pathways, potentially limiting generalizability. Despite this, the study includes multiple specialties and models, enhancing transferability of insights. Additional limitations include small sample size (n=12) typical of qualitative work and reliance on self-reported perceptions early in role implementation. Strengths include comprehensive coverage across five specialties, inclusion of varied models and sites, systematic analytic rigor, and application of an established implementation framework.