Citations

AbstractObjectivesTo report lessons from integrating the methods and perspectives of clinical informatics (CI) and implementation science (IS) in the context of Improving the Management of symPtoms during and following Cancer Treatment (IMPACT) Consortium pragmatic trials.Materials and MethodsIMPACT informaticists, trialists, and implementation scientists met to identify challenges and solutions by examining robust case examples from 3 Research Centers that are deploying systematic symptom assessment and management interventions via electronic health records (EHRs). Investigators discussed data collection and CI challenges, implementation strategies, and lessons learned.ResultsCI implementation strategies and EHRs systems were utilized to collect and act upon symptoms and impairments in functioning via electronic patient-reported outcomes (ePRO) captured in ambulatory oncology settings. Limited EHR functionality and data collection capabilities constrained the ability to address IS questions. Collecting ePRO data required significant planning and organizational champions adept at navigating ambiguity.DiscussionBringing together CI and IS perspectives offers critical opportunities for monitoring and managing cancer symptoms via ePROs. Discussions between CI and IS researchers identified and addressed gaps between applied informatics implementation and theory-based IS trial and evaluation methods. The use of common terminology may foster shared mental models between CI and IS communities to enhance EHR design to more effectively facilitate ePRO implementation and clinical responses.ConclusionImplementation of ePROs in ambulatory oncology clinics benefits from common understanding of the concepts, lexicon, and incentives between CI implementers and IS researchers to facilitate and measure the results of implementation efforts.

AbstractCancer and its treatment produce deleterious symptoms across the phases of care. Poorly controlled symptoms negatively affect quality of life and result in increased health-care needs and hospitalization. The Improving the Management of symPtoms during And following Cancer Treatment (IMPACT) Consortium was created to develop 3 large-scale, systematic symptom management systems, deployed through electronic health record platforms, and to test them in pragmatic, randomized, hybrid effectiveness and implementation trials. Here, we describe the IMPACT Consortium’s conceptual framework, its organizational components, and plans for evaluation. The study designs and lessons learned are highlighted in the context of disruptions related to the COVID-19 pandemic.

Abstract Background: Patients with chronic knee pain are often unaware of treatment options and likely outcomes—information that is critical to decision-making. A consistent framework for communicating patient-personalized information enables clinicians to provide consistent, targeted, and relevant information. Our objective was to user-test a shared decision-making (SDM) tool for chronic knee pain. Methods: A cross-functional team developed a Markov-based health economics model and tested the model outputs with patient panels, patient and clinician focus groups, and clinical specialists. The resulting SDM tool was user-tested in a parallel-designed, randomized controlled study with 52 African American and 52 Latina women from geographically representative areas of the US. Participants were randomized to counseling with or without the SDM tool. Feedback was collected at intervention and at 1 month after intervention and analyzed with Student’s t-tests and Chi-squared analyses (alpha = 0.05). Results: Qualitative results indicated patients understood the material, rated the overall experience highly, and were likely to recommend the physician. The SDM group reported high satisfaction with the tool. A greater proportion of the SDM group (56%) reported increased physical activity over baseline at 1 month compared with the control group (33%) ( P = 0.0005). New use of medications for knee pain (58% SDM; 49% control) did not differ significantly between groups ( P = 0.15). Conclusion: Use of this innovative SDM tool was associated with high satisfaction and a significant increase in self-reported physical activity level at 1 month. The SDM tool may elicit behavioral changes to promote musculoskeletal health.

In humans, de novo truncating variants in WASF1 (Wiskott–Aldrich syndrome protein family member 1) have been linked to presentations of moderate-to-profound intellectual disability (ID), autistic features, and epilepsy. Apart from one case series, there is limited information on the phenotypic spectrum and genetic landscape of WASF1-related neurodevelopmental disorder (NDD). In this report, we describe detailed clinical characteristics of six individuals with WASF1-related NDD. We demonstrate a broader spectrum of neurodevelopmental impairment including more mildly affected individuals. Further, we report new variant types, including a copy number variant (CNV), resulting in the partial deletion of WASF1 in monozygotic twins, and three missense variants, two of which alter the same residue, p.W161. This report adds further evidence that de novo variants in WASF1 cause an autosomal dominant NDD.