Safe and effective genomic medicine implementation in hospitals: a scoping review

Abstract

Background

Genomic medicine is rapidly changing routine clinical care in a range of specialties. Effective clinical governance is essential for safe implementation of emerging clinical practice, including genomic medicine. Frameworks exist for national implementation of genomics but lack the granularity needed by hospitals to guide local implementation of national policy.

We aimed to identify if a framework suitable to support the safe, effective implementation and use of genomic medicine at a hospital level exists.

Methods

A systematic search using scoping review methodology was performed, searching three databases (Medline, Embase and PubMed), from 2009 to 2022, to identify structured approaches to the clinical governance of genomics at a meso (hospital/hospital consortia) level.

Results

No frameworks were identified that provided a holistic clinical governance approach to hospital-level implementation of genomics. Eight publications included components relevant to the implementation of genomics. While the clinical governance components included in the eight publications varied, all identified one or more of the following as important to effective implementation: optimal leadership of genomic care; ensuring an effective workforce; ensuring safe, effective clinical practice; the importance of quality metrics and the criticality of consumer partnerships. No publication explicitly discussed risk management, but all identified processes which would serve to minimise risk.

Conclusions

Institutional-level change is essential for the implementation of genomic medicine throughout a health system. Yet, there is a lack of evidence-based frameworks to support integrated clinical governance of genomic medicine and its implementation by hospitals and their executive leaders. Our results can contribute to the design of an approach which supports hospital planning and decision-making by integrating all elements of clinical governance. Without this, implementation will be piecemeal, access to genomic medicine across a health system inequitable, and patients may receive inefficient, ineffective, slow and potentially unsafe care.

WHAT IS ALREADY KNOWN ON THIS TOPIC

• Clinical governance frameworks are an effective way to support value-based implementation of emerging clinical practice.

• There is a large and growing body of national-level policy guidance for implementation of genomic medicine, but this is not sufficiently granular to practically support effective implementation at a hospital/hospital consortia level.

WHAT THIS STUDY ADDS

• This study identifies a gap in the literature: the lack of a holistic framework and resources to support hospitals to implement and monitor genomic medicine across their organisation.

• Only a small number of publications identify the importance of critical clinical governance elements in genomic medicine implementation, and none are comprehensive.

• Existing clinical governance frameworks may not wholly address the specific challenges of genomic medicine implementation, and more work is needed to address these challenges to ensure equitable, value-based genomic medicine delivery.

WHY THIS STUDY IS IMPORTANT

• Hospitals play a critical role in the delivery of genomic medicine, guidance which specifically considers genomic medicine implementation at an organisational level is not only needed by hospitals but also necessary for realising the broader policy recommendations for increased uptake of genomics.

• A clinical governance approach, tailored for the unique and uncommon features of genomic medicine, will likely improve safe and effective uptake of genomic medicine across hospitals.

HOW THIS STUDY MIGHT AFFECT RESEARCH, PRACTICE OR POLICY

• Our findings can facilitate development of guidance to support safe, effective value-based organisational-level implementation of genomic medicine, through the adoption of a holistic, integrated, clinical governance approach.

Introduction

Clinical governance is defined as the systems, processes, leadership and culture that support delivery of safe, effective, value-based healthcare.¹ Effective clinical governance is essential for high quality healthcare. While there are numerous different clinical governance frameworks published, their content has a high degree of commonality.¹,³ Box 1 shows common features identified as essential to achieving high-quality care. These principles are relevant at all levels of the healthcare system and everyone involved in the system has a role to play in effective clinical governance.²

Box 1. Essential elements of high-quality care¹,³.

High-performing leadership and culture

An effective, safe workforce

Effective systems and processes

Effective risk management systems

Processes for continuous monitoring and improvement

Meaningful consumer participation.

Governance of healthcare systems can be considered as a matrix: horizontally, it spans clinical governance (those elements specifically related to delivering safe, high-quality care) and other governance domains relevant to many organisations (such as financial and legal governance).² As well as spanning that breadth, it is required at three different levels vertically: macro (national/jurisdictional), meso (organisational) and micro (clinical department or individual clinician level).⁴ Typically, macro-level governance provides policy and regulatory priorities and direction but may not be granular enough to optimally support meso (organisational) or micro (department) level governance.^{5 6} For ease, the term hospital will be used throughout the publication to refer to organisational level (meso) governance, recognising that this may be single stand-alone hospitals or groups of hospitals within a health service.

Innovation—the adoption of positive research findings and emerging best practice—is an important component of high-quality healthcare. As clinical practices evolve, there is a transition from the practice being undertaken within a research framework to adopting findings into clinical practice (‘mainstreaming’).⁷ During this adoption and mainstreaming phase, there is a need to apply an effective clinical governance framework that supports and encourages innovation while also ensuring that any new practice or technology is evidence-based, safe, effective and cost-effective. The new practice needs to be supported by organisational systems. Additionally, there is a need to ensure the workforce has the appropriate skills and qualifications to safely implement the new process or technology. Equally important is ensuring that patients are appropriately consented and engaged with their options when deciding to undergo emerging practice.^{8 9}

Many hospitals already have in place systems and processes for clinical governance of emerging practice and technology, though these may vary. One emerging area of clinical care where this is relevant is genomic medicine, which is evolving quickly due to health policy impetus in some health systems and a drive from clinicians for rapid translation of research findings in others. We use the term genomic medicine to refer to a genomic sequencing test and the use of that test in healthcare. These tests (which may be performed on a pathogen, malignancy, patient or family member) analyse all or a portion of an individual’s DNA to identify variations. These test results can guide diagnosis, prognosis, risk management and/or treatment of disease in humans. In addition to ordering and performance of the test and its subsequent use in clinical decision-making, patient care (‘genomic care’) also requires counselling and consent of the patient prior to testing, clinical interpretation of the results, communication of results to the patient and consideration of the health implications for relatives. This care may be provided in outpatient or inpatient settings. The use of genomic tests in practice is now moving rapidly beyond specialist (clinical genetics or precision medicine) services to enter routine clinical care.

In addition to the common challenges of ‘mainstreaming’ new technologies and practice, the implementation of genomic medicine raises additional governance considerations. Genomic medicine is relevant to a wide range of hospital departments and clinical specialities. Thus, the scale contrasts to most new technology changes, which are often limited to a small number of professionals in a single clinical unit. It is therefore more akin to an organisation-wide quality improvement initiative, by virtue of its requirement for a systematic approach across many clinical services. Unlike a quality improvement initiative, however, evidence to support specific applications of genomic tests is widely variable. Although a strong evidence base for the use of genomic testing has been established in some areas,¹⁰,¹² in others it is still emerging or may never be achieved. Further challenges are posed by the fact that many patient genomic sequencing results may have health implications for family members and that there is potential for future reanalysis of patient data over time as technology and available evidence evolve.¹³,¹⁶

Nevertheless, advances in genomic knowledge and capability have resulted in a widespread increase in the use of genomic testing.^{10 17 18} This means hospitals need processes to ensure that genomic medicine is safe, appropriate and effective. This goes beyond the features of the test itself and relates to the essential aspects of high-quality care addressed in clinical governance frameworks. While these frameworks can provide a structure for the governance of genomics in clinical care, they are not sufficient to guide hospitals in navigating the specific issues described when implementing genomic medicine.

Many countries around the world, including Australia, have strategic plans or policies which relate to the implementation of genomics across a health system. Some of these acknowledge governance themes.^{19 20} Previous literature reviews have identified implementation frameworks and implementation science approaches aimed at improving the uptake of genomic tests.^{21 22} There are also published reports of genomic services and models of genomic service delivery which include or acknowledge governance themes.²³,²⁵ Between high-level national or state-based (macro) policies and (micro) individual clinical practice, is the ‘meso’ oversight of genomic activity at a hospital level. It is recognised that deficits in governance at the mesolevel are a barrier to policy implementation, reform and innovation.^{26 27} Given the challenges genomic medicine poses when existing hospital clinical governance is applied, this review sought to identify any work done to date specific to this field. We focused on clinical governance, a systematic approach led by health service executives to ensure high standards of care and continuous improvement in clinical performance.^{28 29} This differs from research governance which has been developed to protect participants, ensure scientific integrity, and uphold legal and ethical standards in clinical research involving patients or data.^{30 31} While they overlap, the key distinction lies in focus: research governance ensures studies are conducted ethically to produce generalisable knowledge, whereas clinical governance ensures safe, effective and continuously improving day-to-day care. This is achieved through organisational processes, controls and systems to make evidence-informed decisions about clinical service delivery and monitor ongoing patient care. In contrast, technology transfer models centre on knowledge management and learning as a technology moves from research to use, commonly in the context of commercialisation.³²

We, therefore, aimed to identify if a suitable clinical governance framework existed or could be modified to support the safe and effective implementation of genomic medicine into clinical practice in a hospital.

Methods

We performed a systematic literature search using a scoping review methodology. Using a systematic search strategy, we identified and mapped frameworks against defined inclusion criteria. Selected studies were read and data were extracted to synthesise the existing evidence according to clinical governance domains. Further details of this approach are described in the sections below. Scoping review methodology was chosen given the relatively recent focus on genomic implementation, and our desire to understand what others in this area identify as important themes even if not yet implemented or systematically assessed.

The review design was informed by guidance from the Joanna Briggs Institute on methodology for scoping reviews and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA) guidelines.^{33 34}

Search strategy

The scoping review question, search strategy and inclusion criteria were developed using the PCC (Population, Concept, Context) framework as recommended by the Joanna Briggs Institute. The population element was not included as our question did not focus on a specific condition or cohort. The concept of interest in this review is that of a framework for the safe and effective implementation of genomic medicine (box 2, rows 1 and 2). The context was within hospitals (box 2, row 3).

Box 2. Medline (OVID) Search terms. These were adapted to search Embase and PubMed. Lines have been condensed for presentation purposes.

Limits:

• Published in English.

• Published from 1 January 2009 to present (search performed on 26 August 2022).

• Humans, not animals or bacteria or COVID-19.

A systematic search of the databases Medline (OVID), Embase and PubMed was performed. The search strategy was constructed with advice from a specialist librarian and was informed by recent scoping reviews on the implementation and clinical use of genomics,^{21 22} exploration of relevant Medical Subject Headings terms and consideration of other key words. Reference lists of relevant publications were also screened. Literature was searched from January 2009 to August 2022, with 2009 chosen to match the starting date of recent scoping reviews on the implementation of genomics mentioned above. The search terms used are outlined in box 2.

Records resulting from the literature search were imported into EndNote V.X9 by LC for duplicate removal, then to Rayyan for title/abstract screening and coscreening with TTD.

Selection of studies

The inclusion and exclusion criteria are outlined in box 3.

Box 3. Inclusion and exclusion criteria.

Inclusion criteria

• Referred to the use of genomics in the clinical setting (including pharmacogenomics, precision medicine).

• Explicitly or implicitly mentioned framework, guideline, model, policy, programme or any form of structured approach that is related to the service delivery and governance of genomics at a hospital or health service level.

Exclusion criteria

• No access to full text.

• Studies unrelated to the service delivery of clinical genomics such as studies focused on research.

• Specific clinical information only, focus on a single patient journey or laboratory processes only.

• Implementation of genomics within a designated genetics service, or development of a genetics consultative service.

• Focus at a national or state health service level, and not usable by a hospital.

• Model of care (including molecular tumour board) without a higher level/specific clinical governance framework.

• Predictive genetic testing (for disease screening).

Given our focus on clinical governance of genomics, rather than its uptake, our inclusion criteria were publications referring to genomics (including those limited to pharmacogenomics), and which included a structured approach to genomics service delivery, and with specific reference to governance aspects. Frameworks were excluded if they were clearly implementation science frameworks without a specific focus on governance, even if they contained some constructs (eg, resources, knowledge) that could also be mapped to governance themes.

The focus was also specifically on governance at a hospital level, in the expectation that use by clinicians outside of genetics services will increase. As such, we limited the included publications to those whose approach could be used at a hospital-wide level, excluding higher-level state and national policies or strategic plans as well as specific models of care (such as the implementation of genomics within a designated genetics service or development of a genetics consultative service). Therefore, publications referring to the implementation of genomics within a designated genetics service, or development of a genetics consultative service, were also excluded.

We interpreted the term ‘framework’ to be a structured and comprehensive approach, encompassing models, guidelines and policies. Frameworks whose primary aim was the assessment of pre-existing practice were included if the assessed elements had a governance focus, and the same framework could be used as a guide to implementing best practice. Publications providing a list of recommendations without mention of a structured approach were not included as they were unlikely to be comprehensive.

One reviewer (LC) led the peer-reviewed screening with a second reviewer (TTD) screening 5% of the titles and abstracts independently in Rayyan to ensure inter-rater reliability. Both reviewers noted their reasons for including or excluding each of the records they screened in Rayyan and held meetings to discuss and resolve any discordant screening results or difficult decisions. A third reviewer (BD-M) was involved in this process when required. The resultant full-text articles were screened with challenging inclusion/exclusion decisions brought to regular group meetings with the whole research team for discussion and resolution. Figure 1 shows the PRISMA flow chart of the screening process and results.

Figure 1. PRISMA 2020 flow diagram for new systematic reviews which included searches of databases, registers and other sources. From: Page MJ, McKenzie JE, Bossuyt PM, Boutron I, Hoffmann TC, Mulrow CD, et al. The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. BMJ 2021;372:n71. doi: 10.1136/bmj.n71. For more information, visit: http://www.prisma-statement.org/.

Data charting and synthesis

A data extraction form, including the nature and extent of the data to be collected from the selected publications, was developed according to the Joanna Briggs Institute’s recommendations on key information to extract.³⁴ This was refined and finalised through consensus of the authors. Data charted included study/publication characteristics (country, year, aims) and framework/model characteristics (purpose, method of development, description of the framework, domains/levels/categories, and whether the framework had been used and/or evaluated).

Data charting of each publication was performed by a single reviewer (LC or IB), and validated by a second reviewer (TTD or LC) to ensure accuracy and completeness. Meetings among the research team were carried out during the iterative process of data extraction and analysis. Clinical governance themes within the publications were identified and mapped to established clinical governance domains. The Victorian Clinical Governance Framework domains were used given this is a well-established framework in our healthcare system,¹ a State system with over 300 hospitals and health services in the public and private sectors. The domains are leadership and culture, partnering with consumers, workforce, risk management and clinical practice.¹ This framework is based on the Australian National Model Clinical Governance framework, which is relevant to all public and private acute health services in Australia irrespective of size.²

Results

Record selection and characteristics of included studies

The initial search yielded 10 611 records. 5313 titles/abstracts were screened after removal of duplicates, as well as an additional 13 identified following citation searching (figure 1). In total, 74 records were retrieved for full text review. Of these, 62 were excluded for reasons outlined in figure 1. Most of those excluded either did not have a framework, described an implementation framework without a focus on governance or described a model of care/workflow process only.

There were, therefore, eight publications for inclusion in the analysis. Each of these could be used by a hospital and described aspects that related to clinical governance concepts. Five of the eight reports were from the USA,³⁵,³⁹ one from Canada and the USA,⁴⁰ one from the UK⁴¹ and one from Europe (Belgium).⁴² They were published between 2014 and 2022.

None of the included publications described frameworks specifically developed for the purpose of clinical governance of genomics or use of clinical governance as a framework for implementation at a hospital level. The included publications refer variously to their work as a framework,^{35 42} model,³⁶,³⁸ maturity matrix,⁴¹ service implementation³⁹ and recommendations.⁴⁰ Henceforth, we will refer collectively to these as frameworks.

Four related to pharmacogenomics/pharmacogenetics,³⁶,³⁹ and these accounted for four of the five reports published prior to 2019. One framework was designed for cancer genomics,⁴² and the remaining three publications were targeted to genomics more generally (online supplemental table S1).^{35 40 41}

The four publications whose focus was genomics generally or cancer genomics were developed using expert consensus methods (interviews, think tanks, state of play and workshops).³⁵⁴⁰,⁴² Three of these also described or assessed application of the framework (two pilots and one implementation).^{35 41 42} The four publications relating to pharmacogenomics described local implementation models, suggesting that these could be applied in other settings^{36 38} or outlining key elements to be included in similar efforts.^{37 39} Some publications included details regarding their model development but did not explicitly describe their method of determining those elements reported to be essential or important (online supplemental table S1).³⁶,³⁹

The primary intended purpose of the included frameworks varied. Two were to guide the integration of genomic testing into routine clinical practice.^{40 42} Four provided comprehensive models or highlighted key considerations for implementation, all were in pharmacogenomics.³⁶,³⁹ Two enable assessment of the current status of genomic healthcare but could also be used to guide implementation efforts.^{35 41} One of the latter was aimed specifically at assessing nursing genomic competency and integration; it was included as it could be used across an institution (as nursing staff span a broad range of departments, wards and specialties), and the domains it included have relevance to genomic integration more generally.⁴¹

Clinical governance domains

While none holistically addressed clinical governance or use of clinical governance as a framework for implementation of genomics, across the publications we identified a number of aspects that relate directly to clinical governance and map to existing clinical governance domains. These domains are drawn from the Australian National Model Clinical Framework and the Safer Care Victoria Clinical Governance Framework.^{1 2}

Leadership and culture

Both institutional and clinical leadership were explicitly identified as important elements in six of the eight frameworks.³⁵,³⁹⁴¹ This included recognition that (1) strong and consistent institutional leadership and support was required to initiate and maintain genomics programmes and (2) institutional support and endorsement were critical to coordination of activities across the organisation, providing organisational guidance and resource.³⁵,³⁸⁴¹ The importance of multidisciplinary teams of experts was identified,^{36 37} including the development of multidisciplinary oversight committees, whose roles include providing oversight and governance, selection of appropriate test processes and mechanisms for results return.^{38 39} At a clinical level, the importance of genomics champions to drive programmes was identified.^{35 36}

The importance of workplace culture to support the use of genomics was also recognised—both specifically a culture of positive attitudes towards genomics, as well as more generally having a workplace culture which supports strong working relationships, collaboration and effective communication.⁴¹

Workforce

Workforce considerations were specifically outlined in seven reports. This included the need for a genomic competent workforce, through education of physicians, genetic counsellors, trainees and laboratory staff.³⁶,^{3840 42} A traditional range of education opportunities was discussed (eg, grand rounds, education modules) as well as ‘on demand’ links to training material embedded in the electronic health record (EHR).³⁶,⁴¹ The need for this education to be ongoing was also highlighted.^{37 38} One recommended establishing core competencies in genomics, embedding genomics into the training curricula and providing continuing education programmes.⁴¹ The need for sustainable infrastructure and resources to support service capacity was also noted.⁴¹

Clinical practice

All frameworks identified the need for systems and processes to be in place to guide various stages in the genomic process. Identified stages requiring consideration included patient and test selection, standardised collection of phenotype data, test ordering, pretest counselling and informed consent, test funding, insurance approval and post-test result return and follow-up.³⁵,⁴² One framework outlined requirements for the ordering clinician, including a minimum skill set.⁴⁰ Others suggested processes to ensure appropriate patient and test selection included having an institutional gatekeeper (eg, via guidelines, specified individual or expert committee) to approve testing and provide educational feedback to the ordering clinician,⁴⁰ standardised indications,⁴² guidelines of prerequisites for testing⁴⁰ or specifically approved drug–gene pairs for pharmacogenomic testing.³⁶,³⁹ Some frameworks included recommendations for aspects of processes which fall under the auspice of the laboratory (accurate genotyping, variant prioritisation and curation, and the requirement to use accredited laboratories), and aspects which cross the boundary between the laboratory and clinical use (eg, a requirement for clear genetic reports).^{38 40}

Processes to manage variants of uncertain significance and incidental findings were called out as specific areas of importance.^{38 40} The need for defined processes to enable clinicians to seek assistance related to genomics was also identified,^{37 40} including having genomic experts (such as genetic counsellors, molecular laboratory staff and clinical geneticists) available to provide guidance and feedback,⁴⁰ or clinical decision support tools to assist decision-making.^{37 39 41}

The role of quality and safety metrics to evaluate patient safety, and clinical, economic and other outcomes was reported. Four publications discussed the importance of implementing quality metrics to support monitoring and outcomes assessment.^{36 37 41 42} These were variously described as quality metrics,³⁷ evaluation against standards,⁴¹ dashboards and reports,³⁶ and benchmarking and external quality assessment.⁴² Suggested data collection included test ordering rate, turnaround time, actions taken in response to results, and clinician and laboratory feedback.^{36 37 41 42}

Risk management

No publication explicitly specified risk management, but all identified processes which would serve to minimise risk. Some of these overlap with the processes discussed under clinical practice, given their role in ensuring the appropriate clinical use of genomics. The role of a framework as a resource for health services to identify best practice was recognised.³⁵ Additional specific considerations included the requirement for systems to safely and effectively collect, store and share data,^{35 38 41 42} and the need for genomic information to be incorporated in the EHRs in a transparent way.³⁶,⁴⁰ Leveraging the EHR to incorporate clinical decision support was discussed, in particular in relation to pharmacogenomic results.³⁶,³⁹

Consumer partnership

The role of consumer partnership was noted in five reports. The importance of gaining stakeholders’ perspectives on genomics-related topics—such as informed consent, legal and ethical implications of testing, and health outcomes—to inform service delivery was noted by some.^{41 42} However, for the most part, consumer partnership was simply an acknowledgement of the need for genomics education for patients in the pretest and post-test setting.^{37 38 40 41}

Discussion

A high proportion of change initiatives in healthcare fail due to organisational-level factors including poor leadership, planning, stakeholder engagement or system complexity.⁴³,⁴⁵ Safe and effective implementation of emerging clinical practice and technology is an essential component of effective clinical governance and guides the successful implementation of genomic medicine at a health service or hospital level.⁴⁶ We sought to identify frameworks specifically addressing clinical governance and the issues of safety and effectiveness. Despite the importance of such frameworks, this review found none developed for this purpose. Furthermore, while some of the elements above were discussed in the identified frameworks, none of the identified publications reported an integrated approach or included all the key elements of a clinical governance framework. A more recent publication⁴⁷ discusses some clinical governance elements; however, it was written for the purpose of mapping requirements at the national level and the high-level content is unlikely to provide sufficient guidance to organisational leaders on implementation.

Eight publications presented structured, comprehensive approaches relating to the use of genomics and included a number of aspects relating to governance. These aspects were not specifically described by their authors as clinical governance, consistent with findings of the Catalogue of Global Genomics Medicine Implementation Initiatives, where less than one-third of the included initiatives explicitly mentioned governance and leadership.²⁰ Nonetheless, elements from the publications identified in our review could be mapped to the common clinical governance domains of leadership and culture, workforce, clinical practice, risk management and consumer partnership.

Leadership of healthcare innovation is essential yet poorly understood, with limited research to guide this process.⁴⁸ We found both institutional and clinical leadership were explicitly identified as important elements in many of our included frameworks. All the included frameworks describing their methods used consensus across experts from a number of areas³⁵⁴⁰,⁴² when considering implementation requirements. We suggest this reflects the importance of a multidisciplinary, ‘distributed leadership’ approach,^{20 49} not only to direct patient care but also to the clinical governance of hospital-wide implementation of genomic medicine. Organisational strategy and governance of genomic implementation will be optimised by engaging hospital leaders, clinical leaders and diverse clinicians in planning and monitoring. Further weight to this argument is provided by the broad range of genomic tests and varied indications and settings in which these might be considered.

While framed differently, four publications highlighted the importance of the use of monitoring and metrics. Effective monitoring increases the likelihood of innovation in healthcare.⁵⁰ A framework which supports an ongoing quality improvement process, and the evolution of systems and processes over time, would appear to have advantages for a rapidly changing field like genomics. Two of the frameworks centred on assessment of the maturity of either a clinical area³⁵ or a profession⁴¹ and could lend themselves to monitoring practice and change over time. As such, they may be useful to both guide initial implementation of genomic medicine and inform hospitals’ clinical governance processes for monitoring, assessing and improving their practice going forward.

At this relatively early stage of genomic medicine mainstreaming, there is a dearth of evidence-based guidelines to support organisational mainstreaming.^{48 49 51} This makes the formulation of proscriptive frameworks challenging. The established evidence base and relatively narrow scope of pharmacogenomics lends itself more easily to the development of a framework, so it is perhaps not surprising that half of the frameworks identified related to pharmacogenomics/pharmacogenetics.³⁶,³⁹ However, the fact that use of pharmacogenomics does not sit within one specialty—situated instead with different clinical groups or departments across the hospital—necessitates systems and processes to regulate and monitor its use. This consideration enhances the relevance of frameworks originating with pharmacogenomics when considering the use of genomics more generally.

While the eight publications made reference to elements of clinical governance, this was not explicit, nor was the language consistent. Equally, none took a holistic approach to those elements. A comprehensive, holistic approach can provide a structure that supports excellence, accountability, and continuous improvement—the whole being greater than the sum of its parts. While policy-level guidance often emphasises timely translation of genomics into practice, equal attention must be given to ensuring its safe, appropriate, effective, and cost-effective use in routine clinical practice. Although the clinical governance aspects identified in existing frameworks align with established domains, gaps remain and important considerations for organisation-wide oversight of genomic care quality and value remain insufficiently addressed. A structured analysis of requirements for safe, effective genomic medicine implementation against established clinical governance frameworks would help define the essential requirements for safe and effective implementation, and clarify genomics-specific governance needs.

Addressing organisational challenges is crucial for bridging the gap between macrolevel policy directives and microlevel clinical practice,^{26 52 53} yet the need for substantial resources and effort at this level can be overlooked when planning and implementing large-scale change or national policy initiatives.^{54 55} Hospitals typically have a myriad of competing demands, making issues of strategic importance challenging to address.^{56 57} In the context of emerging clinical practice, this can limit human and other resources available to prioritise implementation, thereby hampering organisational innovation.⁵⁸

Effective implementation of genomic medicine requires strong leadership and organisation-wide change. However, competing hospital priorities, the complexity of change and the lack of tailored implementation resources—particularly those aligned with existing clinical governance—pose significant barriers to sustained, organisational-level adoption.^{28 29}

A clinical governance framework, which encompasses all the essential elements of high-quality care (as shown in box 1) and acknowledges their interrelationships, can provide a structured method for designing and undertaking implementation which ensures that considerations of safety, quality, value and risk are integrated from the outset.

Strengths and limitations

This review has been conducted specifically with a clinical governance lens. A strength of this approach is that evidence-based, organisation-wide decision-making about implementation of genomic medicine should serve to ensure high-quality patient care while minimising the risk of clinician decisions being influenced by external commercial interests.

Using a well-documented approach, we have mapped what exists to established clinical governance domains. In doing so, we have identified a gap in the current literature, and opportunities for future research.

During screening steps, publications that focused on the uptake and/or logistics of implementing genomics were excluded if they did not highlight governance or safety in titles or abstracts. It is possible that there may have been some relevant elements of hospital-level governance within the full text. However, the fact that clinical governance domains, or overarching approaches, were not explicitly highlighted in the title or abstracts reinforces the lack of emphasis on these aspects.

While the search terms were designed to capture publications from both stand-alone hospitals and integrated health services, it is possible that publications relating to health service consortia not described as hospitals, health services or health facilities (and where no mention is made in the publication about delivery of care) may not have been identified by the search strategy.

This review was limited to studies published in English, which may have excluded relevant research published in other languages. Within that, publications from all countries were included, providing a breadth of analysis beyond Australia.

Conclusions

While there is significant and increasing policy guidance at a national (macro) level for genomic medicine implementation, equitable patient access to safe, high quality genomic medicine will only be achieved with effective implementation and delivery of this care at an organisational (hospital) level.

We find that sufficiently granular guidance to support hospital (meso) level utilisation of genomics is lacking and no frameworks used a structured, multifaceted approach to implementation that considered all key elements of clinical governance. This is a growing concern as mainstreaming of genomic medicine increases.

Taking a holistic clinical governance approach facilitates innovation while also ensuring the emerging genomic medicine practice is safe, effective and cost-effective. Our finding that genomic-specific considerations can be described under established clinical governance domains can be a first step towards presenting these considerations to hospital leaders within a familiar structure and may provide the basis for tools to streamline genomic implementation.

Given the critical role that hospitals play in mainstreaming genomic medicine, guidance which specifically considers genomic medicine implementation at an organisational level is not only needed by hospitals but also necessary for realising the broader policy recommendations for increased uptake of genomics.

The programme funders had no role in the study design; in the collection, analysis and interpretation of the data; in the writing of the report; or in the decision to submit the paper for publication and did not influence the results/outcomes of the study despite author affiliations with the funder.

Data availability statement

No data are available.