Investigating the Adoption of Clinical Genomics in Australia. An Implementation Science Case Study

Abstract

Despite the overwhelming interest in clinical genomics, uptake has been slow. Implementation science offers a systematic approach to reveal pathways to adoption and a theory informed approach to addressing barriers presented. Using case study methodology, we undertook 16 in-depth interviews with nongenetic medical specialists to identify barriers and enablers to the uptake of clinical genomics. Data collection and analysis was guided by two evidence-based behaviour change models: the Theoretical Domains Framework (TDF), and the Capability, Opportunity Motivation Behaviour model (COM-B). Our findings revealed the use of implementation science not only provided a theoretical structure to frame the study but also facilitated uncovering of traditionally difficult to access responses from participants, e.g., “safety in feeling vulnerable” (TDF code emotion/COM-B code motivation). The most challenging phase for participants was ensuring appropriate patients were offered genomic testing. There were several consistent TDF codes: professional identity, social influences, and environmental context and resources and COM-B codes opportunity and motivation, with others varying along the patient journey. We conclude that implementation science methods can maximise the value created by the exploration of factors affecting the uptake of clinical genomics to ensure future interventions are designed to meet the needs of novice nongenetic medical specialists.

A Toolkit for Implementation of Clinical Genomic Testing: Using a Combined Stakeholder and Evidence-Driven Approach

“…We conducted an in depth TDF-driven intervention mapping exercise to synthesise ndings from the 16 TDF-informed semi-structured interviews with nongenetic medical specialists, who identi ed factors affecting the implementation of genomics [50] and generated intuitive enabling strategies.…”

“…Our starting point was the initial synthesis undertaken on the 16 interview transcripts with nongenetic medical specialists (neurology = 4; cardiology = 1; nephrology = 6; immunology = 2; oncology = 3; including some with leadership roles = 7) [50]. This work coded barriers and enablers according to the TDF across three speci c target behaviour areas along the genomics clinical pathway [i) ensuring appropriate patients are selected for genomic testing, ii) requesting testing and interpreting the data, and iii) providing results to patients] [52] to identify what factors facilitate or hinder the implementation of genomics into clinical practice by non-genetic specialists.…”

“…In-depth context clari cation revealed crucial insights from the lead interviewer (SB) who had assigned the original TDF codes prior to the discussion [50]. This allowed for drilling down barriers and enablers to the construct level, ensured con dence amongst the group that domains assigned to barriers were appropriate, and in instances where there was some uncertainty, provided an opportunity to unpick coding in relation to the context and make amendments where necessary.…”

“…In stage 1, interview data from 32 participants (16 non-genetic medical specialists and 16 service level professionals) involved in developing the genomics clinical practice systems and approaches across ve agships was synthesised to generate TDF-based barriers and enablers to undertaking three key tasks (target behaviour areas [1]) crucial for the implementation of genomics [i) ensuring appropriate patients are selected for genomic testing, ii) requesting testing and interpreting the data, and iii) providing results to patients] [52]. In stage 2a, mixed methods were used to conduct process map guided TDF-informed interviews [53] and identify the psychosocial and environmental determinants of change across the three target behaviour areas [50,52]. This study reports on the results of the triangulation of these data to inform the design of a theorydriven toolkit to support the translation of genomics evidence into clinical practice.…”

“…Together these alliances have placed emphasis on understanding, from a service level and clinical practice perspective, how genomic testing can be implemented in healthcare. As a result we have studied clinician emergent and self-organising behaviours (i.e., communal behaviours which create order through interactions) during the implementation of genomics into practice [43]; identi ed successful emergent behaviours and gaps in practice [44,49]; and synthesised this information using a theoretical framework [38,50,51]. The next phase of this component of the national genomics research program was to use the insights of these early adopters -including the use of intuition and experience for the development of implementation strategies -to co-design a foundation implementation toolkit to facilitate genomic novice nongenetic clinicians translate genomic testing into clinical practice across Australia [52].…”