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Background Much research does not address the practical needs of stakeholders responsible for introducing health care delivery interventions into organizations working to achieve better outcomes. In this article, we present an approach to using the Consolidated Framework for Implementation Research (CFIR) to guide systematic research that supports rapid-cycle evaluation of the implementation of health care delivery interventions and produces actionable evaluation findings intended to improve implementation in a timely manner. Methods To present our approach, we describe a formative cross-case qualitative investigation of 21 primary care practices participating in the Comprehensive Primary Care (CPC) initiative, a multi-payer supported primary care practice transformation intervention led by the Centers for Medicare and Medicaid Services. Qualitative data include observational field notes and semi-structured interviews with primary care practice leadership, clinicians, and administrative and medical support staff. We use intervention-specific codes, and CFIR constructs to reduce and organize the data to support cross-case analysis of patterns of barriers and facilitators relating to different CPC components. Results Using the CFIR to guide data collection, coding, analysis, and reporting of findings supported a systematic, comprehensive, and timely understanding of barriers and facilitators to practice transformation. Our approach to using the CFIR produced actionable findings for improving implementation effectiveness during this initiative and for identifying improvements to implementation strategies for future practice transformation efforts. Conclusions The CFIR is a useful tool for guiding rapid-cycle evaluation of the implementation of practice transformation initiatives. Using the approach described here, we systematically identified where adjustments and refinements to the intervention could be made in the second year of the 4-year intervention. We think the approach we describe has broad application and encourage others to use the CFIR, along with intervention-specific codes, to guide the efficient and rigorous analysis of rich qualitative data. Trial registration NCT02318108

Background It is essential for radiologists to communicate actionable findings to the referring clinicians reliably. Natural language processing (NLP) has been shown to help identify free-text radiology reports including actionable findings. However, the application of recent deep learning techniques to radiology reports, which can improve the detection performance, has not been thoroughly examined. Moreover, free-text that clinicians input in the ordering form (order information) has seldom been used to identify actionable reports. This study aims to evaluate the benefits of two new approaches: (1) bidirectional encoder representations from transformers (BERT), a recent deep learning architecture in NLP, and (2) using order information in addition to radiology reports. Methods We performed a binary classification to distinguish actionable reports (i.e., radiology reports tagged as actionable in actual radiological practice) from non-actionable ones (those without an actionable tag). 90,923 Japanese radiology reports in our hospital were used, of which 788 (0.87%) were actionable. We evaluated four methods, statistical machine learning with logistic regression (LR) and with gradient boosting decision tree (GBDT), and deep learning with a bidirectional long short-term memory (LSTM) model and a publicly available Japanese BERT model. Each method was used with two different inputs, radiology reports alone and pairs of order information and radiology reports. Thus, eight experiments were conducted to examine the performance. Results Without order information, BERT achieved the highest area under the precision-recall curve (AUPRC) of 0.5138, which showed a statistically significant improvement over LR, GBDT, and LSTM, and the highest area under the receiver operating characteristic curve (AUROC) of 0.9516. Simply coupling the order information with the radiology reports slightly increased the AUPRC of BERT but did not lead to a statistically significant improvement. This may be due to the complexity of clinical decisions made by radiologists. Conclusions BERT was assumed to be useful to detect actionable reports. More sophisticated methods are required to use order information effectively.

Although next‐generation sequencing‐based panel testing is well practiced in the field of cancer medicine for the identification of target molecules in solid tumors, the clinical utility and clinical issues surrounding panel testing in hematological malignancies have yet to be fully evaluated. We conducted a multicenter prospective clinical sequencing study to verify the feasibility of a panel test for hematological tumors, including acute myeloid leukemia, acute lymphoblastic leukemia, multiple myeloma, and diffuse large B‐cell lymphoma. Out of 96 eligible patients, 79 patients (82%) showed potentially actionable findings, based on the clinical sequencing assays. We identified that genetic alterations with a strong clinical significance were found at a higher frequency in terms of diagnosis (n = 60; 63%) and prognosis (n = 61; 64%) than in terms of therapy (n = 8; 8%). Three patients who harbored a germline mutation in either DDX41 (n = 2) or BRCA2 (n = 1) were provided with genetic counseling. At 6 mo after sequencing, clinical actions based on the diagnostic (n = 5) or prognostic (n = 3) findings were reported, but no patients were enrolled in a clinical trial or received targeted therapies based on the sequencing results. These results suggest that panel testing for hematological malignancies would be feasible given the availability of useful diagnostic and prognostic information. This study is registered with the UMIN Clinical Trial Registry (UMIN000029879, multiple myeloma; UMIN000031343, adult acute myeloid leukemia; UMIN000033144, diffuse large B‐cell lymphoma; and UMIN000034243, childhood leukemia). This multicenter prospective study investigated feasibility of target capture‐based panel testing, focusing on hematological malignancies. Our results suggest that panel testing for hematological malignancies is feasible given the availability of useful diagnostic and prognostic information.

Background Despite advances in managing secondary health complications after spinal cord injury (SCI), challenges remain in developing targeted community health strategies. In response, the SCI Health Maintenance Tool (SCI-HMT) was developed between 2018 and 2023 in NSW, Australia to support people with SCI and their general practitioners (GPs) to promote better community self-management. Successful implementation of innovations such as the SCI-HMT are determined by a range of contextual factors, including the perspectives of the innovation recipients for whom the innovation is intended to benefit, who are rarely included in the implementation process. During the digitizing of the booklet version of the SCI-HMT into a website and App, we used the Consolidated Framework for Implementation Research (CFIR) as a tool to guide collection and analysis of qualitative data from a range of innovation recipients to promote equity and to inform actionable findings designed to improve the implementation of the SCI-HMT. Methods Data from twenty-three innovation recipients in the development phase of the SCI-HMT were coded to the five CFIR domains to inform a semi-structured interview guide. This interview guide was used to prospectively explore the barriers and facilitators to planned implementation of the digital SCI-HMT with six health professionals and four people with SCI. A team including researchers and innovation recipients then interpreted these data to produce a reflective statement matched to each domain. Each reflective statement prefaced an actionable finding, defined as alterations that can be made to a program to improve its adoption into practice. Results Five reflective statements synthesizing all participant data and linked to an actionable finding to improve the implementation plan were created. Using the CFIR to guide our research emphasized how partnership is the key theme connecting all implementation facilitators, for example ensuring that the tone, scope, content and presentation of the SCI-HMT balanced the needs of innovation recipients alongside the provision of evidence-based clinical information. Conclusions Understanding recipient perspectives is an essential contextual factor to consider when developing implementation strategies for healthcare innovations. The revised CFIR provided an effective, systematic method to understand, integrate and value recipient perspectives in the development of an implementation strategy for the SCI-HMT. Trial registration N/A.

The primary purpose of this study is to determine if the implementation of an actionable findings communication system (PeerVue) with explicitly defined criteria for the classification of critical results, leads to an increase in the number of actionable findings reported by radiologists. Secondary goals are to 1) analyze the adoption rate of PeerVue and 2) assess the accuracy of the classification of actionable findings within this system. Over a two-year period, 890,204 radiology reports were analyzed retrospectively in order to identify the number of actionable findings communicated before (Year 1) and after the implementation of PeerVue (Year 2) at a tertiary care academic medical center. A sub-sample of 145 actionable findings over a two-month period in Year 2 was further analyzed to assess the degree of concordance with our reporting policy. Before PeerVue, 4623/423,070 (1.09%) of radiology reports contained an actionable finding. After its implementation, this number increased to 6825/467,134 (1.46%) (p < 0.0001). PeerVue was used in 3886/6825 (56.9%) cases with actionable findings. The remaining 2939/6825 (43.1%) were reported using the legacy tagging system. From the sub-sample taken from PeerVue, 104/145 (71.7%) were consistent with the updated reporting policy. A software program (PeerVue) utilized for the communication of actionable findings contributed to a 34% (p < 0.0001) increase in the reporting rate of actionable findings. A sub-analysis within the new system indicated a 56.9% adoption rate and a 71.7% accuracy rate in reporting of actionable findings.

The application of whole-exome sequencing (WES) for diagnostic purposes has the potential to unravel secondary findings unrelated with the primary reason of testing. Some of those might be of high clinical utility and comprise disease-causing variants in genes, related to life-threatening and clinically actionable diseases. Clarifying the allelic frequencies of such variants in specific populations is a crucial step for the large-scale deployment of genomic medicine. We analysed medically relevant variants in the 81 genes from the American College of Medical Genetics and Genomics (ACMG) v3.2 list of actionable loci, using WES data from a diagnostic laboratory cohort of 3972 persons, tentatively resampled to represent the Portuguese population geographic distribution. We identified medically actionable variants in 6.2% of our cohort, distributed across several disease domains: cardiovascular disorders (3.0%), cancer predisposition (2.0%), miscellaneous disorders (1.1%), and metabolic disorders (0.1%). Additionally, we estimated a frequency of heterozygotes for recessive disease alleles of 11.1%. Overall, our results suggest that medically actionable findings can be identified in approximately 6.2% of persons from our population. This is the first study estimating medically actionable findings in Portugal. These results provide valuable insight for patients, healthcare providers, and policymakers involved in advancing genomic medicine at the national and international level.

Purpose Genomic sequencing can reveal variants with limited to no medical actionability. Previous research has assessed individuals’ intentions to learn this information, but few report the decisions they made and why. Methods The North Carolina Clinical Genomic Evaluation by Next Generation Exome Sequencing (NCGENES) project evaluated adult patients randomized to learn up to six types of non–medically actionable secondary findings (NMASF). We previously found that most participants intended to request NMASF and intentions were strongly predicted by anticipated regret. Here we examine discrepancies between intentions and decisions to request NMASF, hypothesizing that anticipated regret would predict requests but that this association would be mediated by participants’ intentions. Results Of the 76% who expressed intentions to learn results, only 42% made one or more requests. Overall, only 32% of the 155 eligible participants requested NMASF. Analyses support a plausible causal link between anticipated regret, intentions, and requests. Conclusions The discordance between participants’ expressed intentions and their actions provides insight into factors that influence patients’ preferences for genomic information that has little to no actionability. These findings have implications for the timing and methods of eliciting preferences for NMASF and suggest that decisions to learn this information have cognitive and emotional components.

As genomic and exomic testing expands in both the research and clinical arenas, determining whether, how, and which incidental findings to return to the ordering clinician and patient becomes increasingly important. Although opinion is varied on what should be returned to consenting patients or research participants, most experts agree that return of medically actionable results should be considered. There is insufficient evidence to fully inform evidence-based clinical practice guidelines regarding return of results from genome-scale sequencing, and thus generation of such evidence is imperative, given the rapidity with which genome-scale diagnostic tests are being incorporated into clinical care. We present an overview of the approaches to incidental findings by members of the Clinical Sequencing Exploratory Research network, funded by the National Human Genome Research Institute, to generate discussion of these approaches by the clinical genomics community. We also report specific lists of “medically actionable” genes that have been generated by a subset of investigators in order to explore what types of findings have been included or excluded in various contexts. A discussion of the general principles regarding reporting of novel variants, challenging cases (genes for which consensus was difficult to achieve across Clinical Sequencing Exploratory Research network sites), solicitation of preferences from participants regarding return of incidental findings, and the timing and context of return of incidental findings are provided.

Incidental findings are inevitable as clinical research and practice transitions from a single gene approach to a genomic approach. A novel deletion of the Fumarate Hydratase ( FH ) gene was identified in a 22 year old male who underwent a molecular karyotype as part of an autism spectrum disorder research project. This unexpected result implies a predisposition to Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC), a rare, autosomal dominant condition and has unforeseen implications for him and his family. We review the typical features and management of HLRCC and discuss the challenges that face health professionals, as genetic testing advances and becomes more accessible.