Evaluation of research co-design in health: a systematic overview of reviews and development of a framework.

BACKGROUND: Co-design with consumers and healthcare professionals is widely used in applied health research. While this approach appears to be ethically the right thing to do, a rigorous evaluation of its process and impact is frequently missing. Evaluation of research co-design is important to identify areas of improvement in the methods and processes, as well as to determine whether research co-design leads to better outcomes. We aimed to build on current literature to develop a framework to assist researchers with the evaluation of co-design processes and impacts. METHODS: A multifaceted, iterative approach, including three steps, was undertaken to develop a Co-design Evaluation Framework: 1) A systematic overview of reviews; 2) Stakeholder panel meetings to discuss and debate findings from the overview of reviews and 3) Consensus meeting with stakeholder panel. The systematic overview of reviews included relevant papers published between 2000 and 2022. OVID (Medline, Embase, PsycINFO), EBSCOhost (Cinahl) and the Cochrane Database of Systematic reviews were searched for papers that reported co-design evaluation or outcomes in health research. Extracted data was inductively analysed and evaluation themes were identified. Review findings were presented to a stakeholder panel, including consumers, healthcare professionals and researchers, to interpret and critique. A consensus meeting, including a nominal group technique, was applied to agree upon the Co-design Evaluation Framework. RESULTS: A total of 51 reviews were included in the systematic overview of reviews. Fifteen evaluation themes were identified and grouped into the following seven clusters: People (within co-design group), group processes, research processes, co-design context, people (outside co-design group), system and sustainment. If evaluation methods were mentioned, they mainly included qualitative data, informal consumer feedback and researchers' reflections. The Co-Design Evaluation Framework used a tree metaphor to represent the processes and people in the co-design group (below-ground), underpinning system- and people-level outcomes beyond the co-design group (above-ground). To evaluate research co-design, researchers may wish to consider any or all components in the tree. CONCLUSIONS: The Co-Design Evaluation Framework has been collaboratively developed with various stakeholders to be used prospectively (planning for evaluation), concurrently (making adjustments during the co-design process) and retrospectively (reviewing past co-design efforts to inform future activities).

Developing a shared language: a proposed guide to frame early implementation science collaboration discussions.

Miscommunication between health care practitioners and implementation researchers can lead to a mismatch of expectations and understandings, resulting in wasted research and frustration. Conversely, combining the expertise and knowledge of those working in health care practice and implementation research can deliver context informed research questions and appropriate study designs. Achieving this ambition requires a shared language. We sought to develop a guide to identify a common language to constructively explore nascent implementation research concepts. We set up a working group, comprising of implementation researchers, health care practitioners and operational managers, to work through ideas generation, debate and a consensus process to generate and refine a discussion guide. The resultant guide steps health care practitioners and implementation researchers through a three-phase enquiry - Question 1: What is the implementation question? Question 2: What is the proposed implementation solution? And Question 3: How can the investigation of this idea be resourced? At each step, the health care practitioner and implementation researcher collaborate to include theory and practice and rigorously work through the question to build implementation on evidence and to promote diverse stakeholder engagement. The next steps for this study will be operationalising the discussion guide, as an interactive tool. Future evaluation, to test effectiveness, acceptability and feasibility will be designed with health care practitioners and implementation researchers.

Bringing together a wide range of clinical and research experts is vital for meeting the challenges of implementing of complex health interventions. However, language and jargon can often get in the way. This mismatch can lead to missed opportunities and contribute to wasted research that fails to meet consumers' needs. We need a shared language to maximize the expertise of healthcare practitioners and implementation researchers, thereby improving care. We propose a three-phase discussion guide to assist healthcare practitioners and implementation researchers through the process of starting an implementation study. We guide them through three questions: What is the implementation question? What is the proposed implementation solution? How can this study be resourced? At each step, healthcare practitioners and implementation researchers collaborate to incorporate theory and practice, rigorously addressing the question to build implementation based on evidence and promote diverse stakeholder engagement.

Selecting Immune Checkpoint Inhibitor Side Effects for Real-Time Monitoring in Routine Cancer Care: A Modified Delphi Study.

PURPOSE: Electronic patient-reported outcome (ePRO) symptom monitoring may support the safe delivery of immune checkpoint inhibitors (ICI). There is no consensus on which side effects should be monitored in routine care. We aimed to develop a prioritized list of ICI side effects to include in ePRO systems and compare this to existing ICI-specific patient-reported outcome measures (PROMs). METHODS: We conducted a two-round modified Delphi survey. Participants were patients (or their carers) who had received/were receiving ICI or managing health care professionals (HCPs). Round 1 (R1) side effects were generated from a literature review and existing PROMs. In R1, participants rated the importance of 63 ICI side effects in an ePRO system on a five-point Likert scale. In round 2 (R2), participants ranked the 10 most important side effects from 36 side effects. Content mapping of the prioritized list against existing PROMs was conducted. RESULTS: In R1, 47 patients, nine carers, and 58 HCPs responded. Twenty-eight side effects were rated important (I)/very important (VI) by >75% of participants and included in R2. Ten were rated I/VI by <50% of participants and excluded. Twenty-five were rated I/VI by 50%-75% of participants and discussed at an HCP roundtable to determine inclusion in R2. In R2, 39 patients, 11 carers, and 42 HCPs ranked seizures, shortness of breath, chest pain, diarrhea, and rash as the most important side effects for monitoring. Content mapping showed significant differences between the prioritized list and existing PROMs. CONCLUSION: We developed a consumer- and clinician-driven prioritized list of 36 ICI side effects to include in future ePRO systems. This process highlights the importance of broad stakeholder engagement in side-effect selection and rigorously identifying clinically important side effects to ensure content validity and clinical utility.

Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023.

The KidGen Collaborative's Policy Implementation Workshop 2023 celebrated the 10th anniversary of Australia's first kidney genetics clinic in Brisbane. This event marked the establishment of a national network now comprising 19 kidney genetics clinics across Australia, all dedicated to providing equitable access to genomic testing for families affected by genetic kidney diseases. The workshop reflected on past progress and outlined future objectives for kidney genetics in Australia, recognising the collaborative efforts of clinical teams, researchers, and patients. Key insights from the workshop are documented in the proceedings.

A national education program for rapid genomics in pediatric acute care: Building workforce confidence, competence, and capability.

PURPOSE: To develop and evaluate a scalable national program to build confidence, competence and capability in the use of rapid genomic testing (rGT) in the acute pediatric setting. METHODS: We used theory-informed approaches to design a modular, adaptive program of blended learning aimed at diverse professional groups involved in acute pediatric care. The program comprised 4 online learning modules and an online workshop and was centered on case-based learning. We evaluated the program using the Kirkpatrick 4-level model of training evaluation and report our findings using the Reporting Item Standards for Education and its Evaluation (RISE2) guidelines for genomics education and evaluation. RESULTS: Two hundred and two participants engaged with at least 1 component of the program. Participants self-reported increased confidence in using rGT, (P < .001), and quiz responses objectively demonstrated increased competence (eg, correct responses to a question on pretest counseling increased from 30% to 64%; P < .001). Additionally, their capability in applying genomic principles to simulated clinical cases increased (P < .001), as did their desire to take on more responsibility for performing rGT. The clinical interpretation of more complex test results (such as negative results or variants of uncertain significance) appeared to be more challenging, indicating a need for targeted education in this area. CONCLUSION: The program format was effective in delivering multidisciplinary and wide-scale genomics education in the acute care context. The modular approach we have developed now lends itself to application in other medical specialties or areas of health care.

Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework.

Newborn screening (NBS) programmes are highly successful, trusted, public health interventions. Genomic sequencing offers the opportunity to increase the benefits of NBS by screening infants for a greater number and variety of childhood-onset conditions. This study aimed to describe who needs to do what, when, and for whom to deliver genomic newborn screening (gNBS) and capture perceived implementation barriers and enablers. 'Key informants' (individuals involved in the delivery of NBS) were interviewed. The Actor, Action, Context, Time and Target framework guided data collection and analysis. Participants (N = 20) identified new Actions required to deliver gNBS (educating healthcare providers, longitudinal psychosocial support), NBS Actions needing modification (obtaining consent) and NBS Actions that could be adopted for gNBS (prompt referral pathways). Obtaining consent in a prenatal Context was a source of some disagreement. The Time to disclose high chance results was raised as a key consideration in gNBS programme design. Genetic counsellors were identified as key Actors in results management, but workforce limitations may be a barrier. Online decision support tools were an enabler to offering gNBS. The implementation of gNBS will require behaviour changes from HCPs delivering NBS. Findings can inform how to deliver gNBS at population-scale.

Australian public perspectives on genomic newborn screening: which conditions should be included?

BACKGROUND: Implementing genomic sequencing into newborn screening programs allows for significant expansion in the number and scope of conditions detected. We sought to explore public preferences and perspectives on which conditions to include in genomic newborn screening (gNBS). METHODS: We recruited English-speaking members of the Australian public over 18 years of age, using social media, and invited them to participate in online focus groups. RESULTS: Seventy-five members of the public aged 23-72 participated in one of fifteen focus groups. Participants agreed that if prioritisation of conditions was necessary, childhood-onset conditions were more important to include than later-onset conditions. Despite the purpose of the focus groups being to elicit public preferences, participants wanted to defer to others, such as health professionals or those with a lived experience of each condition, to make decisions about which conditions to include. Many participants saw benefit in including conditions with no available treatment. Participants agreed that gNBS should be fully publicly funded. CONCLUSION: How many and which conditions are included in a gNBS program will be a complex decision requiring detailed assessment of benefits and costs alongside public and professional engagement. Our study provides support for implementing gNBS for treatable childhood-onset conditions.

Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services.

Reanalyzing stored genomic data over time is highly effective in increasing diagnostic yield in rare disease. Automation holds the promise of delivering the benefits of reanalysis at scale. Our study aimed to understand current reanalysis practices among Australian clinical and laboratory genetics services and explore attitudes towards large-scale automated re-analysis. We collected audit data regarding testing and reanalysis volumes, policies and procedures from all Australian diagnostic laboratories providing rare disease genomic testing. A genetic health professionals' survey explored current practices, barriers to reanalysis, preferences and attitudes towards automation. Between 2018 and 2021, Australian diagnostic laboratories performed over 25,000 new genomic tests and 950 reanalyses, predominantly in response to clinician requests. Laboratory and clinical genetic health professionals (N = 134) identified workforce capacity as the principal barrier to reanalysis. No specific laboratory or clinical guidelines for genomic data reanalysis or policies were identified nationally. Perceptions of acceptability and feasibility of automating reanalysis were positive, with professionals emphasizing clinical and workflow benefits. In conclusion, there is a large and rapidly growing unmet need for reanalysis of existing genomic data. Beyond developing scalable automated reanalysis pipelines, leadership and policy are needed to successfully transform service delivery models and maximize clinical benefit.

The mobilisation of professional identity: A scoping and lexical review.

Interprofessional care obliges different healthcare professions to share decision-making and sometimes, practices. Given established hierarchies, it can be difficult to promote interprofessional care, partly because of the need to reshape professional identities. Despite interest in effective interprofessional care, there is limited research on how professional identity can be mobilised to promote it. A scoping review as well as lexical review of academic publications was conducted to address this void. After searching seven academic databases and screening the identified publications, 22 publications met the inclusion criteria. They collectively reported on 22 interventions, most of which were used in healthcare. The scoping review suggested there is some evidence that professional identities can be mobilised. Yet, of the 22 interventions, only ten explicitly targeted professional identity. The most common intervention was a training or development program, followed by workplace redesign. The need for internal motivation to mobilise professional identity was reported as was the impact of external drivers, like extending the scope of practice. Extending these findings, the lexical review demonstrated that, among the 22 publications, the relationship between professional identity and mobilisation did not feature prominently within the discourse. Furthermore, it seems that geography matters-that is, while all the publications spoke of professional identity, they differed by region on how they did this. Given these findings, concentrated scholarship is needed on the relationship between professional identity and interprofessional care, lest interprofessional care programs have limited, sustained effect. Implications for scholars and practitioners are explicated.

Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol.

INTRODUCTION: Newborn bloodspot screening (NBS) is a highly successful public health programme that uses biochemical and other assays to screen for severe but treatable childhood-onset conditions. Introducing genomic sequencing into NBS programmes increases the range of detectable conditions but raises practical and ethical issues. Evidence from prospectively ascertained cohorts is required to guide policy and future implementation. This study aims to develop, implement and evaluate a genomic NBS (gNBS) pilot programme. METHODS AND ANALYSIS: The BabyScreen+ study will pilot gNBS in three phases. In the preimplementation phase, study materials, including education resources, decision support and data collection tools, will be designed. Focus groups and key informant interviews will also be undertaken to inform delivery of the study and future gNBS programmes. During the implementation phase, we will prospectively recruit birth parents in Victoria, Australia, to screen 1000 newborns for over 600 severe, treatable, childhood-onset conditions. Clinically accredited whole genome sequencing will be performed following standard NBS using the same sample. High chance results will be returned by genetic healthcare professionals, with follow-on genetic and other confirmatory testing and referral to specialist services as required. The postimplementation phase will evaluate the feasibility of gNBS as the primary aim, and assess ethical, implementation, psychosocial and health economic factors to inform future service delivery. ETHICS AND DISSEMINATION: This project received ethics approval from the Royal Children's Hospital Melbourne Research Ethics Committee: HREC/91500/RCHM-2023, HREC/90929/RCHM-2022 and HREC/91392/RCHM-2022. Findings will be disseminated to policy-makers, and through peer-reviewed journals and conferences.

Aligning organisational priorities and implementation science for cancer research.

BACKGROUND: The challenge of implementing evidence into routine clinical practice is well recognised and implementation science offers theories, models and frameworks to promote investigation into delivery of evidence-based care. Embedding implementation researchers into health systems is a novel approach to ensuring research is situated in day-to-day practice dilemmas. To optimise the value of embedded implementation researchers and resources, the aim of this study was to investigate stakeholders' views on opportunities for implementation science research in a cancer setting that holds potential to impact on care. The research objectives were to: 1) Establish stakeholder and theory informed organisation-level implementation science priorities and 2) Identify and prioritise a test case pilot implementation research project. METHODS: We undertook a qualitative study using semi-structured interviews. Participants held either a formal leadership role, were research active or a consumer advocate and affiliated with either a specialist cancer hospital or a cancer alliance of ten hospitals. Interview data were summarised and shared with participants prior to undertaking both thematic analysis, to identify priority areas for implementation research, and content analysis, to identify potential pilot implementation research projects. The selected pilot Implementation research project was prioritised using a synthesis of an organisational and implementation prioritisation framework - the organisational priority setting framework and APEASE framework. RESULTS: Thirty-one people participated between August 2022 and February 2023. Four themes were identified: 1) Integration of services to address organisational priorities e.g., tackling fragmented services; 2) Application of digital health interventions e.g., identifying the potential benefits of digital health interventions; 3) Identification of potential for implementation research, including deimplementation i.e., discontinuing ineffective or low value care and; 4) Focusing on direct patient engagement e.g., wider consumer awareness of the challenges in delivering cancer care. Six potential pilot implementation research projects were identified and the EMBED project, to support clinicians to refer appropriate patients with cancer for genetic testing, was selected using the synthesised prioritisation framework. CONCLUSIONS: Using a theory informed and structured approach the alignment between strategic organisational priorities and implementation research priorities can be identified. As a result, the implementation research focus can be placed on activities with the highest potential impact.

Determining priority indicators of utility for genomic testing in rare disease: A Delphi study.

PURPOSE: Determining the value of genomic tests in rare disease necessitates a broader conceptualization of genomic utility beyond diagnostic yield. Despite widespread discussion, consensus toward which aspects of value to consider is lacking. This study aimed to use expert opinion to identify and refine priority indicators of utility in rare disease genomic testing. METHODS: We used 2 survey rounds following Delphi methodology to obtain consensus on indicators of utility among experts involved in policy, clinical, research, and consumer advocacy leadership in Australia. We analyzed quantitative and qualitative data to identify, define, and determine priority indicators. RESULTS: Twenty-five experts completed round 1 and 18 completed both rounds. Twenty indicators reached consensus as a priority in value assessment, including those relating to prognostic information, timeliness of results, practical and health care outcomes, clinical accreditation, and diagnostic yield. Whereas indicators pertaining to discovery research, disutility, and factors secondary to primary reason for testing were considered less of a priority and were removed. CONCLUSION: This study obtained expert consensus on different utility indicators that are considered a priority in determining the value of genomic testing in rare disease in Australia. Indicators may inform a standardized approach to evidence generation and assessment to guide future research, decision making, and implementation efforts.

Eliciting parental preferences and values for the return of additional findings from genomic sequencing.

Health economic evidence is needed to inform the design of high-value and cost-effective processes for returning genomic results from analyses for additional findings (AF). This study reports the results of a discrete-choice experiment designed to elicit preferences for the process of returning AF results from the perspective of parents of children with rare conditions and to estimate the value placed on AF analysis. Overall, 94 parents recruited within the Australian Genomics and Melbourne Genomics programmes participated in the survey, providing preferences in a total of 1128 choice scenarios. Statistically significant preferences were identified for the opportunity to change the choices made about AF; receiving positive AF in person from a genetic counsellor; timely access to a medical specialist and high-quality online resources; receiving automatic updates through a secure online portal if new information becomes available; and lower costs. For AF uptake rates ranging between 50-95%, the mean per person value from AF analysis was estimated at AU$450-$1700 (US$300-$1140). The findings enable the design of a value-maximising process of analysis for AF in rare-disease genomic sequencing.

Noninvasive pediatric blood pressure assessment: exploring the clinicians' perspective.

BACKGROUND: Obtaining accurate and reliable blood pressure (BP) readings in pediatric patients is challenging, given difficulties in adhering to measurement guidelines, limited device validation and variable patient cooperation. This study aimed to investigate clinicians' perspectives surrounding noninvasive pediatric BP assessment to identify opportunities for improvement in BP technology and clinical practice. METHOD: Based on an adapted version of the extended Technology Acceptance Model 2, semi-structured interviews were conducted with clinicians involved in noninvasive pediatric BP assessment in a major Australian children's hospital. Transcripts were analyzed thematically and guided by Technology Acceptance Model 2. RESULTS: Clinician responses ( n  = 20) revealed that poor patient tolerance of BP measurement resulting from excessive cuff inflation is a major hindrance to reliable pediatric BP assessment. Clinicians described low trust in BP readings from automated devices, often relating to poor patient tolerance to cuff inflation, thereby diminishing the clinical utility of these readings in informing treatment decisions. Auscultatory measurement was regarded as more trustworthy and better tolerated, but less convenient to perform as compared with oscillometric measurement. CONCLUSION: A dissonance exists between (1) low trust and clinical utility of the most common and easy-to-use BP measurement approach (automated devices), versus (2) higher trust and clinical utility, but efficiency and user-related impediments, for the auscultatory method. Based on our results, we have developed the Blood Pressure Acceptance Model, which can be used to explain and predict clinicians' acceptance of BP technology. Further work is needed to improve the tolerability and accuracy of automated BP devices in real-world pediatric settings.

The value of genomic testing in severe childhood speech disorders.

With increasing gene discoveries for severe speech disorders, genomic testing can alter the diagnostic and clinical paradigms, enabling better life outcomes for children and their families. However, evidence on the value of the outcomes generated is lacking, impeding optimal translation into health care. This study aims to estimate the value and uptake of genomic testing for severe childhood speech disorders. A discrete choice experiment was undertaken to elicit preferences for genomic testing from the perspective of the Australian public (n = 951) and parents of children experiencing severe speech disorder (n = 56). Choice attributes associated with genomic testing were identified through focus groups. A Bayesian D-efficient design was used to develop choice scenarios and choice data were analyzed using a panel error component mixed logit model and a latent class model. Statistically significant preferences were identified across all seven attributes. The mean monetary value of the benefits of genomic testing relative to standard diagnostic care in Australia was estimated at AU$7489 (US$5021) and AU$4452 (US$2985) from the perspectives of the Australian public and families with lived experience of severe speech disorders, with a corresponding test uptake of 94.2% and 99.6%. To ensure fair prioritization of genomics, decision-makers need to consider the wide range of risks and benefits associated with genomic information.

Publics' knowledge of, attitude to and motivation towards health-related genomics: a scoping review.

The use of genomic data in research and genomic information in clinical care is increasing as technologies advance and sequencing costs decrease. Using Rogers' Diffusion of Innovation (DOI) theory as a framework we reviewed recent literature examining publics' current knowledge of, attitude to, and motivation towards health-related genomics in clinical and research settings. The population of interest was described as 'publics' to denote the heterogeneity of 'the public'. Eligible studies were published in English between 2016-2022. We retrieved 1657 records, with 278 full-text reviewed against the eligibility criteria and concept definitions. In total, 99 articles were included in the review and descriptive numerical summaries were collated. Knowledge literature was categorized using deductive thematic analysis. For attitude and motivation, literature was coded using an analytic framework developed by the authors. There was wide variability in concept definition and measurement across studies. Overall, there was general positivity about genomics, with high awareness but little familiarity or factual knowledge. Publics had high expectations of genomics and perceived that it could provide them with information for their future. Only a few key attitudes were found to be important as motivators or barriers for participation in genomics; these were related to personal and clinical utility of the information. Context was often missing from studies, decreasing the utility of findings for implementation or public engagement. Future research would benefit by using theory-driven approaches to assess relevant publics' knowledge and attitudes of specific contexts or applications to support genomic implementation and informed decision-making.

Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation.

Recent dramatic reductions in the timeframe in which genomic sequencing can deliver results means its application in time-sensitive screening programs such as newborn screening (NBS) is becoming a reality. As genomic NBS (gNBS) programs are developed around the world, there is an increasing need to address the ethical and social issues that such initiatives raise. This study therefore aimed to explore the Australian public's perspectives and values regarding key gNBS characteristics and preferences for service delivery. We recruited English-speaking members of the Australian public over 18 years of age via social media; 75 people aged 23-72 participated in 1 of 15 focus groups. Participants were generally supportive of introducing genomic sequencing into newborn screening, with several stating that the adoption of such revolutionary and beneficial technology was a moral obligation. Participants consistently highlighted receiving an early diagnosis as the leading benefit, which was frequently linked to the potential for early treatment and intervention, or access to other forms of assistance, such as peer support. Informing parents about the test during pregnancy was considered important. This study provides insights into the Australian public's views and preferences to inform the delivery of a gNBS program in the Australian context.

Using Implementation Science Frameworks to Guide the Use of Electronic Patient-Reported Outcome Symptom Monitoring in Routine Cancer Care.

PURPOSE: Electronic patient-reported outcomes (ePROs) are an evidence-based means of detecting symptoms earlier and improving patient outcomes. However, there are few examples of successful implementation in routine cancer care. We conducted a qualitative study to identify barriers and facilitators to implementing ePRO symptom monitoring in routine cancer care using the Consolidated Framework for Implementation Research (CFIR). METHODS: Participants were adult patients with cancer, their caregivers, or health care professionals involved in ePRO monitoring or processes. Focus groups or individual interviews were conducted using a semistructured approach informed by the CFIR. Data were analyzed deductively using the CFIR. Barriers were matched to theory-informed implementation strategies using the CFIR-Expert Recommendations for Implementing Change (ERIC) matching tool. RESULTS: Thirty participants were interviewed: 22 females (73%), aged 31-70 years (28, 94%), comprising patients (n = 8), caregivers (n = 2), medical oncologists (n = 4), nurses (n = 4), hospital leaders (n = 6), clinic administrators (n = 2), pharmacists (n = 2), and information technology specialists (n = 2). Barriers pertaining to four CFIR domains were identified and several were novel, including the challenge of adapting ePROs for different anticancer treatments. Facilitators pertaining to all CFIR domains were identified, such as leveraging acceptability of remote care post-COVID-19 to drive implementation. Conducting consensus discussions with stakeholders to tailor ePROs to the local setting, identifying/preparing individual and group-level champions, and assessing readiness for change (including leveraging technological advances and increased confidence in using remote monitoring post-COVID-19) were the most frequently recommended implementation strategies. CONCLUSION: The CFIR facilitated identification of known and novel barriers and facilitators to implementing ePRO symptom monitoring in routine cancer care. Implementation strategies summarized in a conceptual framework will be used to codesign an ePRO symptom monitoring system for immunotherapy side effects.

Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study.

Automating reanalysis of genomic data for undiagnosed rare disease patients presents a paradigm shift in how clinical genomics is delivered. We aimed to map the current manual and proposed automated approach to reanalysis and identify possible implementation strategies to address clinical and laboratory staff's perceived challenges to automation. Fourteen semi-structured interviews guided by a simplified process map were conducted with clinical and laboratory staff across Australia. Individual process maps were integrated into an overview of the current process, noting variation in service delivery. Participants then mapped an automated approach and were invited to discuss perceived challenges and possible supports to automation. Responses were analysed using the Consolidated Framework for Implementation Research, linking to the Expert Recommendations for Implementing Change framework to identify theory-informed implementation strategies. Process mapping demonstrates how automation streamlines processes with eleven steps reduced to seven. Although participants welcomed automation, challenges were raised at six of the steps. Strategies to overcome challenges include embedding project champions, developing education materials, facilitating clinical innovation and quality monitoring tools, and altering reimbursement structures. Future work can build on these findings to develop context specific implementation strategies to guide translation of an automated approach to reanalysis to improve clinical care and patient outcomes.

Quality of life in caregivers of a child with a developmental and epileptic encephalopathy.

AIM: To explore the relationship between social care-related quality of life (SCrQoL) for caregivers of a child with a developmental and epileptic encephalopathy (DEE; such as SCN2A and Dravet syndrome) and health literacy, illness perceptions, and caregiver activation. METHOD: As part of a larger pre-post pilot study of an information linker service, caregivers completed a baseline questionnaire which included demographics and measures to assess SCrQoL, health literacy, illness perceptions, and caregiver activation. We used Spearman's Rho to determine relationships between variables. RESULTS: Seventy-two caregivers completed the questionnaire. Total SCrQoL varied widely, ranging from an 'ideal state' to 'high needs state'. Caregivers most frequently reported high needs regarding doing activities they enjoy and looking after themselves. Total SCrQoL was correlated with cognitive (r[70] = -0.414, p < 0.000) and emotional representations of illness (r[70] = -0.503, p < 0.000), but not coherence (r = -0.075, p = 0.529). Total SCrQoL was not correlated with health literacy (r[70] = 0.125, p = 0.295) or caregiver activation (r[70] = 0.181, p = 0.127). INTERPRETATION: Future research should explore whether interventions that help caregivers cognitively reframe the negative experiences of having a child with a DEE, and support them to partake in activities they enjoy, boost their SCrQoL. WHAT THIS PAPER ADDS: Caregiver social care-related quality of life (SCrQoL) varied widely, from 'ideal state' to 'high needs state'. Most common high needs were doing enjoyable activities and self-care. Caregivers with higher SCrQoL may perceive their child's illness as less threatening. SCrQoL does not appear to be related to caregiver activation in this sample.