Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

Australian Genomics is a national collaborative partnership of more than 100 organizations piloting a whole-of-system approach to integrating genomics into healthcare, based on federation principles. In the first five years of operation, Australian Genomics has evaluated the outcomes of genomic testing in more than 5,200 individuals across 19 rare disease and cancer flagship studies. Comprehensive analyses of the health economic, policy, ethical, legal, implementation and workforce implications of incorporating genomics in the Australian context have informed evidence-based change in policy and practice, resulting in national government funding and equity of access for a range of genomic tests. Simultaneously, Australian Genomics has built national skills, infrastructure, policy, and data resources to enable effective data sharing to drive discovery research and support improvements in clinical genomic delivery.

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.

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.

Determining the utility of diagnostic genomics: a conceptual framework.

BACKGROUND: Diagnostic efficacy is now well established for diagnostic genomic testing in rare disease. Assessment of overall utility is emerging as a key next step, however ambiguity in the conceptualisation and measurement of utility has impeded its assessment in a comprehensive manner. We propose a conceptual framework to approach determining the broader utility of diagnostic genomics encompassing patients, families, clinicians, health services and health systems to assist future evidence generation and funding decisions. BODY: Building upon previous work, our framework posits that utility of diagnostic genomics consists of three dimensions: the domain or type and extent of utility (what), the relationship and perspective of utility (who), and the time horizon of utility (when). Across the description, assessment, and summation of these three proposed dimensions of utility, one could potentially triangulate a singular point of utility axes of type, relationship, and time. Collectively, the multiple different points of individual utility might be inferred to relate to a concept of aggregate utility. CONCLUSION: This ontological framework requires retrospective and prospective application to enable refinement and validation. Moving forward our framework, and others which have preceded it, promote a better characterisation and description of genomic utility to inform decision-making and optimise the benefits of genomic diagnostic testing.

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.

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.

Standardizing variation: Scaling up clinical genomics in Australia.

PURPOSE: Clinical genomics demands close interaction of physicians, laboratory scientists, and genetic professionals. Taking genomics to scale requires an understanding of the underlying processes from the perspective of nongenetic physicians who are new to the field. We identified components of the processes amenable to adaptation when scaling up clinical genomics. METHODS: Semistructured interviews informed by the Theoretical Domains Framework with nongenetic physicians, who were using clinical genomics in practice, were guided by an annotated process map with 7 steps following the patient's journey. Findings from the individual maps were synthesized into an overview process map and a series of individual maps by common location and specialty. Interviews were analyzed using the Theoretical Domains Framework. RESULTS: In total, 16 nongenetic physicians (eg, nephrologists, immunologists) participated, generating 1 overview and 10 individual process maps. Sixteen common steps were identified across clinical specialties and locations, with variations over 9 steps. We report the potential for standardization across these 9 steps. CONCLUSION: When scaling up complex interventions, it is essential to identify steps where variation can be accommodated. With these results we show how process mapping can be used to identify steps where variation is acceptable during scale up to accommodate adaptation to local context, allowing for the inevitable evolution of factors influencing ongoing implementation and sustainability.

Calibrating variant curation by clinical context based on factors that influence patients' tolerance of uncertainty.

PURPOSE: Shared decision making manages genomic uncertainty by integrating molecular and clinical uncertainties with patient values to craft a person-centered management plan. Laboratories seek genomic report consistency, agnostic to clinical context. Molecular reports often mask laboratory-managed uncertainties from clinical decision making. Better integration of these uncertainty management strategies requires a nuanced understanding of patients' perceptions and reactions to test uncertainties. We explored patients' tolerance to variant uncertainty in 3 parameters: (1) relative causal significance, (2) risk accuracy, and (3) classification validity. METHOD: Deliberative forums were undertaken with 18 patients with predictive testing experience. Uncertainty deliberations were elicited for each parameter. A thematic framework was first developed, and then mapped to whether they justified tolerance to more or less parameter-specific uncertainty. RESULTS: Six identified themes mapped to clinical and personal domains. These domains generated opposing forces when calibrating uncertainty. Personal themes justified tolerance of higher uncertainty and clinical themes lower uncertainty. Decision making in uncertainty focused on reducing management regret. Open communication increased tolerance of classification validity and risk accuracy uncertainty. Using these data, we have developed a nascent clinical algorithm integrating molecular uncertainty with clinical context through a targeted communication framework. CONCLUSION: Maximizing test utility necessitates context-specific recalibration of uncertainty management and communication.

Extending an Antiracism Lens to the Implementation of Precision Public Health Interventions.

Precision public health holds promise to improve disease prevention and health promotion strategies, allowing the right intervention to be delivered to the right population at the right time. Growing concerns underscore the potential for precision-based approaches to exacerbate health disparities by relying on biased data inputs and recapitulating existing access inequities. To achieve its full potential, precision public health must focus on addressing social and structural drivers of health and prominently incorporate equity-related concerns, particularly with respect to race and ethnicity. In this article, we discuss how an antiracism lens could be applied to reduce health disparities and health inequities through equity-informed research, implementation, and evaluation of precision public health interventions. (Am J Public Health. 2023;113(11):1210-1218. https://doi.org/10.2105/AJPH.2023.307386).

Using a theory informed approach to design, execute, and evaluate implementation strategies to support offering reproductive genetic carrier screening in Australia.

BACKGROUND: Health care professionals play a central role in offering reproductive genetic carrier screening but face challenges when integrating the offer into practice. The aim of this study was to design, execute, and evaluate theory-informed implementation strategies to support health care professionals in offering carrier screening. METHODS: An exploratory multi-method approach was systematically employed based on the Theoretical Domain Framework (TDF). Implementation strategies were designed by aligning TDF barriers reported by health care professionals involved in a large carrier screening study, to behaviour change techniques combined with study genetic counsellors' experiential knowledge. The strategies were trialled with a subset of health care professionals and evaluated against controls, using findings from questionnaires and interviews with healthcare professionals. The primary outcome measure was the number of couples who initiated enrolment. RESULTS: Health care professionals (n = 151) reported barriers in the TDF Domains of skills, e.g., lack of practice in offering screening, and challenges of environmental context and resources, e.g., lack of time, which informed the design of a skills video and a waiting room poster using the TDF-behaviour change technique linking tool. Following implementation, (Skills video n = 29 vs control n = 31 and Poster n = 46 vs control n = 34) TDF barrier scores decreased across all groups and little change was observed in the primary outcome measure. The skills video, though welcomed by health care professionals, was reportedly too long at seven minutes. The waiting room poster was seen as easily implementable. CONCLUSIONS: As carrier screening moves towards mainstream healthcare, health care professionals report barriers to offering screening. To meet their needs, developing and testing experiential and theory-informed strategies that acknowledge contextual factors are essential.

"It's fundamental to the work that we do": Genetic counselors' perceptions of their role in clients' mental well-being.

The role of a genetic counselor is to assist individuals and their families to comprehend and adapt to genetic information. However, a genetic counselor's role in clients' mental well-being is unclear. Mental well-being is an important component of overall health and it can be affected during the adaptation to genetic information. It is, therefore, essential to consider how mental well-being is viewed in genetic counseling practice. Our research aimed to investigate genetic counselors' perceptions of their role in clients' mental well-being. Our objectives were to (1) understand what genetic counselors perceived their role to be in clients' mental well-being and (2) investigate what factors influence genetic counselors' perceptions of practice. We recruited participants via advertisements in the Human Genetics Society of Australasia and the Australasian Society of Genetic Counselors newsletters, and through the Genetic Support Network of Victoria social media. We completed semi-structured in-depth interviews with 12 Australian genetic counselors and analyzed the interviews using inductive thematic analysis. We found that genetic counselors viewed clients' mental well-being as an important and crucial part of their practice. Three key themes were identified, first, all the participants' views of clients' mental well-being were shaped by personal and professional beliefs. Second, all participants noted that there were factors external to them, such as workplace and professional guidelines, which shaped their role in clients' mental well-being. Third, all those interviewed noted the boundaries of their professional role in clients' mental well-being. From these three themes, we determined that genetic counselors see clients' mental well-being as an integral part of their practice. Our findings add to the extant literature and can shape future practice in this field. Furthermore, we identified how future research priorities could further our knowledge in this area.

Cues Disseminated by Professional Associations That Represent 5 Health Care Professions Across 5 Nations: Lexical Analysis of Tweets.

BACKGROUND: Collaboration across health care professions is critical in efficiently and effectively managing complex and chronic health conditions, yet interprofessional care does not happen automatically. Professional associations have a key role in setting a profession's agenda, maintaining professional identity, and establishing priorities. The associations' external communication is commonly undertaken through social media platforms, such as Twitter. Despite the valuable insights potentially available into professional associations through such communication, to date, their messaging has not been examined. OBJECTIVE: This study aimed to identify the cues disseminated by professional associations that represent 5 health care professions spanning 5 nations. METHODS: Using a back-iterative application programming interface methodology, public tweets were sourced from professional associations that represent 5 health care professions that have key roles in community-based health care: general practice, nursing, pharmacy, physiotherapy, and social work. Furthermore, the professional associations spanned Australia, Canada, New Zealand, the United Kingdom, and the United States. A lexical analysis was conducted of the tweets using Leximancer (Leximancer Pty Ltd) to clarify relationships within the discourse. RESULTS: After completing a lexical analysis of 50,638 tweets, 7 key findings were identified. First, the discourse was largely devoid of references to interprofessional care. Second, there was no explicit discourse pertaining to physiotherapists. Third, although all the professions represented in this study support patients, discourse pertaining to general practitioners was most likely to be connected with that pertaining to patients. Fourth, tweets pertaining to pharmacists were most likely to be connected with discourse pertaining to latest and research. Fifth, tweets about social workers were unlikely to be connected with discourse pertaining to health or care. Sixth, notwithstanding a few exceptions, the findings across the different nations were generally similar, suggesting their generality. Seventh and last, tweets pertaining to physiotherapists were most likely to refer to discourse pertaining to profession. CONCLUSIONS: The findings indicate that health care professional associations do not use Twitter to disseminate cues that reinforce the importance of interprofessional care. Instead, they largely use this platform to emphasize what they individually deem to be important and advance the interests of their respective professions. Therefore, there is considerable opportunity for professional associations to assert how the profession they represent complements other health care professions and how the professionals they represent can enact interprofessional care for the benefit of patients and carers.

Barriers to and Facilitators of Implementing Guidelines for Detecting Familial Hypercholesterolaemia in Australia.

BACKGROUND: Familial hypercholesterolaemia (FH) is a genetic condition that is a preventable cause of premature cardiovascular morbidity and mortality. High-level evidence and clinical practice guidelines support preventative care for people with FH. However, it is estimated that less than 10% of people at risk of FH have been detected using any approach across Australian health settings. The aim of this study was to identify the implementation barriers to and facilitators of the detection of FH in Australia. METHODS: Four, 2-hour virtual focus groups were facilitated by implementation scientists and a clinicians as part of the 2021 Australasian FH Summit. Template analysis was used to identify themes. RESULTS: There were 28 workshop attendees across four groups (n=6-8 each), yielding 13 barriers and 10 facilitators across three themes: (1) patient related, (2) provider related, and (3) system related. A "lack of care pathways" and "upskilling clinicians in identifying and diagnosing FH" were the most interconnected barriers and facilitators for the detection of FH. CONCLUSIONS: The relationships between barriers and facilitators across the patient, provider, and system themes indicates that a comprehensive implementation strategy is needed to address these different levels. Future research is underway to develop a model for implementing the Australian FH guidelines into practice.

Structured approaches to implementation of clinical genomics: A scoping review.

PURPOSE: This study aimed to assess the extent to which structured approaches to implementation of clinical genomics, proposed or adapted, are informed by evidence. METHODS: A systematic approach was used to identify peer-reviewed articles and gray literature to report on 4 research questions: 1. What structured approaches have been proposed to support implementation? 2. To what extent are the structured approaches informed by evidence? 3. How have structured approaches been deployed in the genomic setting? 4. What are the intended outcomes of the structured approaches? RESULTS: A total of 30 unique structured approaches to implementation were reported across 23 peer-reviewed publications and 11 gray literature articles. Most approaches were process models, applied in the preadoption implementation phase, focusing on a "service" outcome. Key findings included a lack of implementation science theory informing the development/implementation of newly designed structured approaches in the genomic setting and a lack of measures to assess implementation effectiveness. CONCLUSION: This scoping review identified a significant number of structured approaches developed to inform the implementation of genomic medicine into clinical practice, with limited use of implementation science to support the process. We recommend the use of existing implementation science theory and the expertise of implementation scientists to inform the design of genomic programs being implemented into clinical care.

Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme.

AIM: This study dynamically designed, evaluated, and implemented the components of an Australian newborn bloodspot screening (NBS) pilot programme for spinal muscular atrophy (SMA). METHOD: We used an implementation-effectiveness study design and continuous interdisciplinary review to measure SMA NBS test protocol performance, identify and overcome laboratory and clinical barriers to implementation, and describe progress during the 2-year pilot study. RESULTS: The NBS programme screened 252 081 newborn infants from 1st August 2018 to 31st January 2021. Using an NBS pilot test protocol, 21 infants were diagnostically confirmed with SMA. The NBS pilot test protocol had a sensitivity of 100%, specificity greater than 99.9%, false-positive rate less than 0.001%, a false-negative rate of 0%, and positive predictive value of 95.5%. A severe phenotype was predicted on the basis of two copies of SMN2 in 57.2% of newborn infants screening positive for SMA. Clinical signs consistent with SMA were evident in 6 out of 21 screen-positive newborn infants within the first 4 weeks of life. A multidisciplinary team establishing strong partnerships across clinical and laboratory staff was key to implementation. INTERPRETATION: This pilot programme suggests that NBS is essential for early identification of newborn infants at risk of SMA and can be effectively translated into clinical practice.

Living with a genetic, undiagnosed or rare disease: A longitudinal journalling study through the COVID-19 pandemic.

INTRODUCTION: COVID-19 changed the way we lived with uncertainty from the outset as the pandemic impacted every aspect of our lives from well-being, socializing to accessing healthcare. For people in vulnerable populations, such as those with genetic, undiagnosed and rare disorders, the experience was heightened. AIM: The aim of this study was to identify how the rapidly changing COVID-19 environment impacted the lives of the Genetic, Undiagnosed and Rare Disease community. METHODS: From June 2020 to May 2021, we collected monthly open-ended journals from people living in Australia with genetic, undiagnosed and rare disorders. Data analysis was deductive, using the Resilience Scale for Adults, and inductive using thematic analysis. RESULTS: We recruited 29 people (average of n = 9.7 submissions each month). Responses changed over the year, with initial journals focusing on the importance of developing new structures for day-to-day lives, while later journals started to focus on mental well-being. Throughout the project, participants reported challenges in accessing health and social care that was compounded by fear and concern over being exposed to the virus. Later journals highlight inconsistent messaging for vaccinations for this vulnerable community. DISCUSSION/CONCLUSION: In parallel with the waves of the COVID-19 pandemic, there need to be waves of targeted support for vulnerable communities. The first support wave needs to focus on facilitating the identification of new frameworks to structure day-to-day lives. A later second wave needs to focus on mental well-being and coping with isolation, while consistent communication relating to health and social care throughout was essential. PATIENT/PUBLIC CONTRIBUTION: This study was co-designed, co-led and analysed with a patient support network.

Mobile Apps for People With Rare Diseases: Review and Quality Assessment Using Mobile App Rating Scale.

BACKGROUND: Mobile apps are becoming increasingly popular, with 5.70 million apps available in early 2021. Smartphones can provide portable and convenient access to health apps. Here, we consider apps for people with one of the estimated 7000 rare conditions, which are defined as having an incidence of <1 in 2000. The needs of people with rare conditions are known to be different from those of people with more common conditions. The former may be socially isolated (not knowing anyone else who has the condition) and may not be able to find reliable information about the disorder. OBJECTIVE: The aim of this review is to search for apps developed specifically for people diagnosed with a rare disease and to assess them for quality using the Mobile App Rating Scale (MARS). We examine features that address 6 identified needs of people with a rare disorder and make recommendations for future developers. METHODS: Google Play Store (Android) and Apple App Store (iOS) were searched for relevant health-related apps specifically for rare diseases. The search included the names of 10 rare disease groups. App quality was determined using MARS, assessing app engagement, functionality, aesthetics, and information. RESULTS: We found 29 relevant apps (from a total of 2272) addressing 14 rare diseases or disease groups. The most common rare conditions addressed were cystic fibrosis (n=6), hemophilia (n=5), and thalassemia (n=5). The most common app features were web-based information and symptom trackers. The mean MARS score was 3.44 (SD 0.84). Lowest scores were for engagement. CONCLUSIONS: Most apps provided factual and visual information, providing tools for self-monitoring and resources to help improve interactions during health consultations. App origin and quality varied greatly. Developers are recommended to consider ways to make appropriate apps more easily identifiable to consumers, to always include high-quality information, improve engagement, provide qualitative evaluations of the app, and include consumers and clinicians in the design.

The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment.

PURPOSE: To estimate the value of genomic sequencing for complex pediatric neurological disorders of suspected genetic origin. METHODS: A discrete choice experiment (DCE) was undertaken to elicit societal preferences and values. A Bayesian D-efficient and explicit partial profile design was used. The design included 72 choice tasks, split across six blocks, with eight attributes (three overlapping per choice task) and three alternatives. Choice data were analyzed using a panel error component mixed logit model and a latent class model. Preference heterogeneity according to personal socioeconomic, demographic, and attitudinal characteristics was explored using linear and fractional logistic regressions. RESULTS: In total, 820 members of the Australian public were recruited. Statistically significant preferences were identified across all eight DCE attributes. We estimated that society on average would be willing to pay AU$5650 more (95% confidence interval [CI]: AU$5500 to $5800) (US$3955 [95% CI: US$3850 to $4060]) for genomic sequencing relative to standard care. Preference heterogeneity was identified for some personal characteristics. CONCLUSION: On average, society highly values all diagnostic, process, clinical, and nonclinical components of personal utility. To ensure fair prioritization of genomics, decision makers need to consider the wide range of risks and benefits associated with genomic information.

Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).

PURPOSE: Widespread, quality genomics education for health professionals is required to create a competent genomic workforce. A lack of standards for reporting genomics education and evaluation limits the evidence base for replication and comparison. We therefore undertook a consensus process to develop a recommended minimum set of information to support consistent reporting of design, development, delivery, and evaluation of genomics education interventions. METHODS: Draft standards were derived from literature (25 items from 21 publications). Thirty-six international experts were purposively recruited for three rounds of a modified Delphi process to reach consensus on relevance, clarity, comprehensiveness, utility, and design. RESULTS: The final standards include 18 items relating to development and delivery of genomics education interventions, 12 relating to evaluation, and 1 on stakeholder engagement. CONCLUSION: These Reporting Item Standards for Education and its Evaluation in Genomics (RISE2 Genomics) are intended to be widely applicable across settings and health professions. Their use by those involved in reporting genomics education interventions and evaluation, as well as adoption by journals and policy makers as the expected standard, will support greater transparency, consistency, and comprehensiveness of reporting. Consequently, the genomics education evidence base will be more robust, enabling high-quality education and evaluation across diverse settings.

Health practitioners' perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review.

BACKGROUND: As interest in reproductive genetic carrier screening rises, with increased availability, the role of healthcare practitioners is central in guiding uptake aligned with a couples' values and beliefs. Therefore, practitioners' views on implementation are critical to the success of any reproductive genetic carrier screening programme. AIM: To explore healthcare practitioners' perceptions of the barriers and enablers to implementation. MATERIALS & METHODS: We undertook a systematic review of the literature searching seven databases using health practitioner, screening and implementation terms returning 490 articles. RESULTS: Screening led to the inclusion of 26 articles for full-text review. We found three interconnected themes relating to reproductive genetic carrier screening: (i) use and impact, (ii) practitioners' beliefs and expectations and (iii) resources. DISCUSSION: Barriers and enablers to implementation were present within each theme and grouping these determinants by (a) community for example lack of public interest, (b) practitioner for example lack of practitioner time and (c) organisation for example lack of effective metrics, reveals a preponderance of practitioner barriers and organisational enablers. Linking barriers with potential enablers leaves several barriers unresolved (e.g., costs for couples) implying additional interventions may be required. CONCLUSION: Future research should draw on the findings from this study to develop and test strategies to facilitate appropriate offering of reproductive genetic carrier screening by healthcare practitioners.