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Consolidated Framework for Implementation Research (CFIR) 14 . Lists of the five domains (Inner setting, outer setting, intervention characteristics, process and characteristics of individuals) and underlying constructs.
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In scaling up an ultra-rapid genomics program, we used implementation science principles to design and investigate influences on implementation and identify strategies required for sustainable “real-world” services. Interviews with key professionals revealed the importance of networks and relationship building, leadership, culture, and the relative...
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... hybrid study designs may be used alongside frameworks such as the Consolidated Framework for Implementation Research (CFIR) 14 , which facilitates systematized understanding of the influences on the implementation process and can be used to inform implementation strategies. Formed from five domains with 39 underlying constructs ( Fig. 1), the CFIR covers: (i) Intervention characteristics, e.g., evidence strength and quality; (ii) Outer setting, e.g., economic, political and social context; (iii) Inner setting, e.g., culture and context of the organization; (iv) Characteristics of individuals, e.g., personal traits and belief about capabilities; (v) Process, e.g., ...
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Background
Like in many settings, implementation of evidence-based practices often fall short in pediatric intensive care units (PICU). Very few prior studies have applied implementation science frameworks to understand how best to improve practices in this unique environment. We used the relatively new integrated Promoting Action on Research Imple...
Citations
... List of the five domains (Intervention characteristics, Inner setting, Outer setting, Intervention characteristics, Characteristics of individuals, Process) and underlying constructs. Reproduced fromBest et al. (2021a), licensed CC BY 4.0. No changes were made to thisfigure.A copy of the license can be found at http://creativecommons.org/licenses/by/4.0/.Frontiers in Geneticsfrontiersin.org 04 ...
Background: The Genomic Medicine Service (GMS) was launched in 2018 in England to create a step-change in the use of genomics in the NHS, including offering whole genome sequencing (WGS) as part of routine care. In this qualitative study on pediatric rare disease diagnosis, we used an implementation science framework to identify enablers and barriers which have influenced rollout.
Methods: Semi-structured interviews were conducted with seven participants tasked with designing the GMS and 14 tasked with leading the implementation across the seven Genomic Medicine Service Alliances (GMSAs) and/or Genomic Laboratory Hubs (GLHs) between October 2021 and February 2022.
Results: Overall, those involved in delivering the service strongly support its aims and ambitions. Challenges include: 1) concerns around the lack of trained and available workforce (clinicians and scientists) to seek consent from patients, interpret findings and communicate results; 2) the lack of a digital, coordinated infrastructure in place to support and standardize delivery with knock-on effects including onerous administrative aspects required to consent patients and order WGS tests; 3) that the “mainstreaming agenda”, whilst considered important, encountered reluctance to become engaged from those who did not see it as a priority or viewed it as being politically rather than clinically driven; 4) the timelines and targets set for the GMS were perceived by some as too ambitious. Interviewees discussed local adaptations and strategies employed to address the various challenges they had encountered, including 1) capacity-building, 2) employing genomic associates and other support staff to support the consent and test ordering process, 3) having “genomic champions” embedded in mainstream services to impart knowledge and best practice, 4) enhancing collaboration between genetic and mainstream specialties, 5) building evaluation into the service and 6) co-creating services with patients and the public.
Conclusion: Our findings highlight the challenges of implementing system-wide change within a complex healthcare system. Local as well as national solutions can undoubtedly address many of these barriers over time.
... Several studies have used implementation science frameworks to study rapid genomic sequencing in critically ill infants and children. In Australia, Best and colleagues used the Consolidated Framework for Implementation Research (CFIR) to design the Australian Genomics Acute Care Program, initially implementing and evaluating rapid genomic sequencing in two hospitals and then scaling up ultra-rapid genomic testing for critically ill children to a national network [10,[65][66][67]. Common themes across interviews with stakeholders included the relative advantage of rapid genomic testing and networks and communication, while intensivists also focused on access to knowledge and genetics professionals focused on the rapid genomic testing intervention and process. ...
During the neonatal period, many genetic disorders present and contribute to neonatal morbidity and mortality. Genomic medicine-the use of genomic information in clinical care- has the potential to significantly reduce morbidity and mortality in the neonatal period and improve outcomes for this population. Diagnostic genomic testing for symptomatic newborns, especially rapid testing, has been shown to be feasible and have diagnostic and clinical utility, particularly in the short-term. Ongoing studies are assessing the feasibility and utility, including personal utility, of implementation in diverse populations. Genomic screening for asymptomatic newborns has also been studied, and the acceptability and feasibility of such an approach remains an active area of investigation. Emerging precision therapies, with examples even at the "n-of-1" level, highlight the promise of precision diagnostics to lead to early intervention and improve outcomes. To sustainably implement genomic medicine in neonatal care in an ethical, effective, and equitable manner, we need to ensure access to genetics and genomics knowledge, access to genomic tests, which is currently limited by payors, feasible processes for ordering these tests, and access to follow up in the clinical and research realms. Future studies will provide further insight into enablers and barriers to optimize implementation strategies.
... 6 The emergence of ultrafast GS in neonatal intensive care units should, therefore, be welcomed as a new milestone. [7][8][9][10][11] Ultrafast genomic testing is also bound to find applications in adult acute care. One such application includes patients with TMA who may benefit from extensive and expeditious genomic sequencing. ...
Thrombotic microangiopathy (TMA) encompasses various genetically driven diseases. The emergence of ultra-fast genomic sequencing has recently opened up new avenues of research for genetic investigations in the setting of intensive care units. TMA is likely to be a suitable focus for fast-track genomic sequencing. By establishing an expeditious molecular diagnosis of patients with complement-dependent hemolytic uremic syndrome, fast-track genomic sequencing allows for the timely implementation or withdrawal of anti-C5 treatment while averting unnecessary, costly, and potentially harmful therapy in patients testing negative. Furthermore, genomics has the potential to reshape the taxonomic classification of TMA thanks to comprehensive genomic analysis. The most significant results arising from such analysis can be categorized as i) new descriptions of genetic diseases previously not recognized as associated with TMA, and ii) an enrichment of the phenotypic spectrum of diseases traditionally related to TMA. The latter draws on the concept of retrophenotyping, whereby genomic investigation precedes full clinical description. By taking precedence over a phenotypic approach, an unbiased genomic-focused analysis maximizes the chances of discovering new descriptions related to a given variant. Presented here are four cases of TMA which highlight these issues and substantiate the promise of fast-track genomic sequencing.
... We adopted a theory-informed approach to this study. The use of the CFIR has been well established in genomics [33,34] and can provide rigor and structure to the assessment of implementation barriers and interventions in context. Vitally, the CFIR constructs have been matched with the ERIC framework [20]. ...
Background: (1) Background: Genomic testing is increasingly utilized as a clinical tool; however, its integration into nephrology remains limited. The purpose of this study was to identify barriers and prioritize interventions for the widespread implementation of genomics in nephrology. (2) Methods: Qualitative, semi-structured interviews were conducted with 25 Australian adult nephrologists to determine their perspectives on interventions and models of care to support implementation of genomics in nephrology. Interviews were guided by a validated theoretical framework for the implementation of genomic medicine—the Consolidated Framework of Implementation Research (CFIR). (3) Results: Nephrologists were from 18 hospitals, with 7 having a dedicated multidisciplinary kidney genetics service. Most practiced in the public healthcare system (n = 24), a large number were early-career (n = 13), and few had genomics experience (n = 4). The top three preferred interventions were increased funding, access to genomics champions, and education and training. Where interventions to barriers were not reported, we used the CFIR/Expert Recommendations for Implementing Change matching tool to generate theory-informed approaches. The preferred model of service delivery was a multidisciplinary kidney genetics clinic. (4) Conclusions: This study identified surmountable barriers and practical interventions for the implementation of genomics in nephrology, with multidisciplinary kidney genetics clinics identified as the preferred model of care. The integration of genomics education into nephrology training, secure funding for testing, and counselling along with the identification of genomics champions should be pursued by health services more broadly.
... The idea of rapid qualitative research approaches (Vindrola-Padros, 2021) has not been taken up in qualitative research studies using implementation science frameworks applied to precision medicine models of care (Best et al., 2021(Best et al., , 2022Levy et al., 2019;McGill et al., 2020;Zebrowski et al., 2019). For example, these studies applied static interviews and lengthy transcription and analysis procedures to make sense of data (Best et al., 2021(Best et al., , 2022McGill et al., 2020;Zebrowski et al., 2019). ...
... The idea of rapid qualitative research approaches (Vindrola-Padros, 2021) has not been taken up in qualitative research studies using implementation science frameworks applied to precision medicine models of care (Best et al., 2021(Best et al., , 2022Levy et al., 2019;McGill et al., 2020;Zebrowski et al., 2019). For example, these studies applied static interviews and lengthy transcription and analysis procedures to make sense of data (Best et al., 2021(Best et al., , 2022McGill et al., 2020;Zebrowski et al., 2019). The online proforma (Smith et al., 2021), called the Rapid Health Implementation Proforma (RHIP is described in detail later, see Method section), is a candidate for rapidly resolving timeliness issues that influence the utility of research and evaluation findings within healthcare (Nunns, 2009). ...
We report a novel approach of amalgamating implementation outcomes of acceptability and fidelity alongside context as a new way of qualitatively evaluating implementation outcomes and context of a precision medicine intervention. A rapid qualitative online proforma was co-designed with stakeholders and sent to a purposive sample of healthcare professionals involved in an early-phase clinical trial intervention. Data were analysed using Framework Analysis. A total of 24 out of 68 proformas were returned. Although some participants raised concerns about drug medication access issues, the main intervention was well accepted and understood across professional groups. Comprehension was enhanced through exposure to specialist multidisciplinary meeting arrangements. In conclusion, a rapid data collection tool and framework are now available to assess readily measurable, qualitative indicators of acceptability, fidelity of receipt and contextual fit within the dynamic precision medicine context.
... Other inpatients were also included if a rapid result was likely to alter clinical management (e.g., organ transplant decisions). The diagnostic yield was 51% and the mean time to report was 3.3 days (Best et al., 2021;Lunke et al, 2020). In July 2020, the study team received further funding to drive the expansion of this service and transition to WGS. ...
The advancements made in Next Generation Sequencing (NGS) technology over the past two decades have transformed our understanding of genetic variation in humans and had a profound impact on our ability to diagnose patients with rare genetic diseases. In this review we discuss the recently developed application of rapid NGS techniques, used to diagnose paediatric patients with suspected rare diseases who are critically ill. We highlight the challenges associated with performing such clinical diagnostics tests in terms of the laboratory infrastructure, bioinformatic analysis pipelines and the ethical considerations that need to be addressed. We end by looking at what future developments in this field may look like and how they can be used to augment the genetic data to further improve the diagnostic rates for these high priority patients. This article is protected by copyright. All rights reserved.
... Subsequently, rapid ES was integrated into routine clinical care in our institution's NICU. Unlike the research study in which a dedicated research team was readily available to identify and screen infants based on specific inclusion criteria, enroll and consent families, and collect and send samples, routine clinical care involves constantly rotating clinical team members with differing perspectives as well as competing clinical demands 21,22 . We therefore hypothesized that integration of rapid ES into routine clinical care may result in a reduction in rapid ES usage, varied phenotypic criteria applied to patient selection, and an increased time to report compared to rapid ES as part of a research study. ...
... Optimizing the rapid ES workflow is critical to the efficiency and sustainability of genomic sequencing in routine clinical care 21,22 . We found that the transition of rapid ES from the research study setting in Phase I into routine clinical care in Phase II was associated with a relatively lower diagnostic yield and an increased time from both NICU admission and genetics consult to ES report. ...
Genomic sequencing is a powerful diagnostic tool in critically ill infants, but performing exome or genome sequencing (ES/GS) in the context of a research study is different from implementing these tests clinically. We investigated the integration of rapid ES into routine clinical care after a pilot research study in a Level IV Neonatal Intensive Care Unit (NICU). We performed a retrospective cohort analysis of infants admitted with suspected genetic disorders to the NICU from December 1, 2018 to March 31, 2021 and compared results to those obtained from a previous research study cohort (March 1, 2017 to November 30, 2018). Clinical rapid ES was performed in 80/230 infants (35%) with a suspected genetic disorder and identified a genetic diagnosis in 22/80 infants (28%). The majority of diagnoses acutely impacted clinical management (14/22 (64%)). Compared to the previous research study, clinically integrated rapid ES had a significantly lower diagnostic yield and increased time from NICU admission and genetics consult to ES report, but identified four genetic diagnoses that may have been missed by the research study selection criteria. Compared to other genetic tests, rapid ES had similar or higher diagnostic yield and similar or decreased time to result. Overall, rapid ES was utilized in the NICU after the pilot research study, often as the first-tier sequencing test, and could identify the majority of disease-causing variants, shorten the diagnostic odyssey, and impact clinical care. Based on our experience, we have identified strategies to optimize the clinical implementation of rapid ES in the NICU.
... The speed of delivering information is no less important than its accuracy (McNall et al., 2004). The CFIR approach has been criticised when applied recently to a precision medicine context for being time-intensive and potentially delaying the identification of findings (Best et al., 2021). In line with this criticism, the CFIR approach indicates some recent attempts by CFIR's creators and other authors to speed up the qualitative data collection and deductive analytic process for contexts with rapid change (Gale et al., 2019;Nevedal et al., 2021;Zucco et al., 2021). ...
... However, despite the potential to speed up the qualitative data collection and analytic process, and fit for within highstake contexts (e.g., precision medicine contexts, etc.), this idea has not been taken up in recent qualitative research studies using CFIR approaches applied to precision medicine models of care (Best et al., 2021;Levy et al., 2019;McGill et al., 2020;Zebrowski et al., 2019). For example, these studies applied static interviews and lengthy transcription and analysis procedures to make sense of data (Best et al., 2021;McGill et al., 2020;Zebrowski et al., 2019). ...
... However, despite the potential to speed up the qualitative data collection and analytic process, and fit for within highstake contexts (e.g., precision medicine contexts, etc.), this idea has not been taken up in recent qualitative research studies using CFIR approaches applied to precision medicine models of care (Best et al., 2021;Levy et al., 2019;McGill et al., 2020;Zebrowski et al., 2019). For example, these studies applied static interviews and lengthy transcription and analysis procedures to make sense of data (Best et al., 2021;McGill et al., 2020;Zebrowski et al., 2019). Recently such qualitative approaches have been criticised for being narrow in scope or superficial in eliciting contextual data (Haines et al., 2021). ...
Our implementation science study focuses on implementing a new way of practice and offers methodological specificity about how to rapidly investigate an individually tailored precision medicine intervention. A qualitative study advancing a new methodology for speedily identifying barriers and enablers to implementation in the context of childhood cancer. Data were collected through rapid ethnography, coded using the Consolidated Framework for Implementation Research, and analysed by Sentiment Analysis. Thirty-eight data collection events occurred during 14 multidisciplinary tumour board meetings, 14 curation meetings, and 10 informal conversations. Sentiment Analysis distilled Consolidated Framework for Implementation Research codes to reveal key barriers and enablers to implementation. A traffic light labelling system has been used to present levels of positivity and negativity (green for strong enablers and red for strong barriers), highlighting levels of concern regarding implementation. Within the intervention design characteristics, “Adaptability” was the strongest enabler and “Design quality and safety” the strongest barrier. Among the contextual factors: “Networks and communication” were the strongest enabler, and “Available resources” were the strongest barrier. Overall, there was a higher percentage of negative sentiment towards intervention design characteristics and contextual factors than positive sentiment, while more concerns were raised about intervention design factors than contextual factors. This study offers a rapid qualitative data collection and analytic methodological roadmap for establishing barriers and enablers to a paediatric precision medicine intervention.
... We will use a theory-driven approach to understand how the NHS GMS is being implemented as well as to evaluate the outcomes from the Service. The Consolidated Framework for Implementation Research (CFIR) 47 will be used as an explanatory framework to systematically assess the contextual factors including barriers and facilitators that influence implementation and adoption, and has been used previously to evaluate the implementation of genomic medicine [48][49][50][51] . The framework provides a taxonomy of operationally defined constructs that are likely to influence implementation of complex programs, organised into five major domains: 1) Intervention Characteristics; 2) Outer Setting; 3) Inner Setting; 4) Characteristics of Individuals; and 5) Process. ...
Background: A new nationally commissioned NHS England Genomic Medicine Service (GMS) was recently established to deliver genomic testing with equity of access for patients affected by rare diseases and cancer. The overarching aim of this research is to evaluate the implementation of the GMS during its early years, identify barriers and enablers to successful implementation, and provide recommendations for practice. The focus will be on the use of genomic testing for paediatric rare diseases.
Methods: This will be a four-year mixed-methods research programme using clinic observations, interviews and surveys. Study 1 consists of qualitative interviews with designers/implementers of the GMS in Year 1 of the research programme, along with documentary analysis to understand the intended outcomes for the Service. These will be revisited in Year 4 to compare intended outcomes with what happened in practice, and to identify barriers and facilitators that were encountered along the way. Study 2 consists of clinic observations (pre-test counselling and results disclosure) to examine the interaction between health professionals and parents, along with follow-up interviews with both after each observation. Study 3 consists of a longitudinal survey with parents at two timepoints (time of testing and 12 months post-results) along with follow-up interviews, to examine parent-reported experiences and outcomes. Study 4 consists of qualitative interviews and a cross-sectional survey with medical specialists to identify preparedness, facilitators and challenges to mainstreaming genomic testing. The use of theory-based and pre-specified constructs will help generalise the findings and enable integration across the various sub-studies.
Dissemination: We will disseminate our results to policymakers as findings emerge, so any suggested changes to service provision can be considered in a timely manner. A workshop with key stakeholders will be held in Year 4 to develop and agree a set of recommendations for practice.
... The paucity of theoretically informed implementation in genomics has already been identified as a factor hindering the uptake and long-term viability of clinical genomic testing [61]. Three studies have used implementation science frameworks to systematically identify barriers and enablers to rapid genomic testing in the paediatric setting, and to identify interventions to facilitate uptake [11,62,63]. The first two studies used the Consolidated Framework for Implementation Research [64] iteratively, firstly to understand barriers and enablers during an initial study across two Australian hospitals in 2016-17 [11], which then informed an implementation strategy to scale up rapid testing to a national network in 2018-19 [23]. ...
... The implementation strategy emphasised communication and feedback, standardised processes, coordination, distributed leadership and the importance of fostering collective learning [23]. Key professionals involved in the delivery of the national programme were subsequently interviewed to inform future 'mainstream' implementation [62]. Findings illustrate a shift in priorities as implementation progresses, with an initial focus on the 'relative advantage' of rapid testing over traditional investigations, and on resolving process issues. ...
... Findings illustrate a shift in priorities as implementation progresses, with an initial focus on the 'relative advantage' of rapid testing over traditional investigations, and on resolving process issues. Trust in consistent delivery, as well as feedback on outcomes were important in engagement, and appropriate resourcing for both the clinical and laboratory components were highlighted as important for long-term sustainability [62]. The third study [63] examined professional perspectives as part of a multi-site implementation in the US [24], using the NASSS (non-adoption, abandonment, scale-up, spread, and sustainability) technology adoption framework [65]. ...
Rapid genomic testing in critically ill neonatal and paediatric patients has transformed the paradigm of rare disease diagnosis, delivering results in real time to inform patient management. More than 20 studies totalling over 1500 patients from diverse healthcare settings worldwide have now been published, forming a compelling evidence base for healthcare system implementation. We review the reported diagnostic and clinical outcomes, as well as broader evaluations of family and professional experiences, cost effectiveness, implementation challenges and bioethical issues arising from rapid testing. As rapid genomic testing transitions from the research to the healthcare setting to become a ‘standard of care’ test, there is a need to develop effective service delivery models to support scalability at both the laboratory and clinical level and promote equity of access, prompt test initiation, integrated multidisciplinary input and holistic family support. Harnessing the high level of professional engagement with rapid genomic testing programmes will continue to drive innovation and adoption, while close integration with emerging precision medicine approaches will be necessary to deliver on the promise of reduced infant and child mortality.
