Journal of the American Medical Informatics Association最新文献

Objective: We aim to use large language models (LLMs) to detect mentions of nuanced psychotherapeutic outcomes and impacts than previously considered in transcripts of interviews with adolescent depression. Our clinical authors previously created a novel coding framework containing fine-grained therapy outcomes beyond the binary classification (eg, depression vs control) based on qualitative analysis embedded within a clinical study of depression. Moreover, we seek to demonstrate that embeddings from LLMs are informative enough to accurately label these experiences.

Materials and methods: Data were drawn from interviews, where text segments were annotated with different outcome labels. Five different open-source LLMs were evaluated to classify outcomes from the coding framework. Classification experiments were carried out in the original interview transcripts. Furthermore, we repeated those experiments for versions of the data produced by breaking those segments into conversation turns, or keeping non-interviewer utterances (monologues).

Results: We used classification models to predict 31 outcomes and 8 derived labels, for 3 different text segmentations. Area under the ROC curve scores ranged between 0.6 and 0.9 for the original segmentation and 0.7 and 1.0 for the monologues and turns.

Discussion: LLM-based classification models could identify outcomes important to adolescents, such as friendships or academic and vocational functioning, in text transcripts of patient interviews. By using clinical data, we also aim to better generalize to clinical settings compared to studies based on public social media data.

Conclusion: Our results demonstrate that fine-grained therapy outcome coding in psychotherapeutic text is feasible, and can be used to support the quantification of important outcomes for downstream uses.

Objectives: The All of Us Research Program is a precision medicine initiative aimed at establishing a vast, diverse biomedical database accessible through a cloud-based data analysis platform, the Researcher Workbench (RW). Our goal was to empower the research community by co-designing the implementation of SAS in the RW alongside researchers to enable broader use of All of Us data.

Materials and methods: Researchers from various fields and with different SAS experience levels participated in co-designing the SAS implementation through user experience interviews.

Results: Feedback and lessons learned from user testing informed the final design of the SAS application.

Discussion: The co-design approach is critical for reducing technical barriers, broadening All of Us data use, and enhancing the user experience for data analysis on the RW.

Conclusion: Our co-design approach successfully tailored the implementation of the SAS application to researchers' needs. This approach may inform future software implementations on the RW.

Objective: This study leverages the rich diversity of the All of Us Research Program (All of Us)'s dataset to devise a predictive model for cardiovascular disease (CVD) in breast cancer (BC) survivors. Central to this endeavor is the creation of a robust data integration pipeline that synthesizes electronic health records (EHRs), patient surveys, and genomic data, while upholding fairness across demographic variables.

Materials and methods: We have developed a universal data wrangling pipeline to process and merge heterogeneous data sources of the All of Us dataset, address missingness and variance in data, and align disparate data modalities into a coherent framework for analysis. Utilizing a composite feature set including EHR, lifestyle, and social determinants of health (SDoH) data, we then employed Adaptive Lasso and Random Forest regression models to predict 6 CVD outcomes. The models were evaluated using the c-index and time-dependent Area Under the Receiver Operating Characteristic Curve over a 10-year period.

Results: The Adaptive Lasso model showed consistent performance across most CVD outcomes, while the Random Forest model excelled particularly in predicting outcomes like transient ischemic attack when incorporating the full multi-model feature set. Feature importance analysis revealed age and previous coronary events as dominant predictors across CVD outcomes, with SDoH clustering labels highlighting the nuanced impact of social factors.

Discussion: The development of both Cox-based predictive model and Random Forest Regression model represents the extensive application of the All of Us, in integrating EHR and patient surveys to enhance precision medicine. And the inclusion of SDoH clustering labels revealed the significant impact of sociobehavioral factors on patient outcomes, emphasizing the importance of comprehensive health determinants in predictive models. Despite these advancements, limitations include the exclusion of genetic data, broad categorization of CVD conditions, and the need for fairness analyses to ensure equitable model performance across diverse populations. Future work should refine clinical and social variable measurements, incorporate advanced imputation techniques, and explore additional predictive algorithms to enhance model precision and fairness.

Conclusion: This study demonstrates the liability of the All of Us's diverse dataset in developing a multi-modality predictive model for CVD in BC survivors risk stratification in oncological survivorship. The data integration pipeline and subsequent predictive models establish a methodological foundation for future research into personalized healthcare.

Objectives: The goal of this case report is to detail experiences and challenges experienced in the training of Primary Care residents in secondary analysis using All of Us Researcher Workbench. At our large, urban safety net hospital, Primary Care/Internal Medicine residents in their third year undergo a research intensive block, the Research Practicum, where they work as a team to conduct secondary data analysis on a dataset with faculty facilitation. In 2023, this research block focused on use of the All of Us Researcher Workbench for secondary data analysis.

Materials and methods: Two groups of 5 residents underwent training to access the All of Us Researcher Workbench, and each group explored available data with a faculty facilitator and generated original research questions. Two blocks of residents successfully completed their research blocks and created original presentations on "social isolation and A1C" levels and "medical discrimination and diabetes management."

Results: Departmental faculty were satisfied with the depth of learning and data exploration. In focus groups, some residents noted that for those without interest in performing research, the activity felt extraneous to their career goals, while others were glad for the opportunity to publish. In both blocks, residents highlighted dissatisfaction with the degree to which the All of Us Researcher Workbench was representative of patients they encounter in a large safety net hospital.

Discussion: Using the All of Us Researcher Workbench provided residents with an opportunity to explore novel questions in a massive data source. Many residents however noted that because the population described in the All of Us Researcher Workbench appeared to be more highly educated and less racially diverse than patients they encounter in their practice, research may be hard to generalize in a community health context. Additionally, given that the data required knowledge of 1 of 2 code-based data analysis languages (R or Python) and work within an idiosyncratic coding environment, residents were heavily reliant on a faculty facilitator to assist with analysis.

Conclusion: Using the All of Us Researcher Workbench for research training allowed residents to explore novel questions and gain first-hand exposure to opportunities and challenges in secondary data analysis.

Objectives: Integration of social determinants of health into health outcomes research will allow researchers to study health inequities. The All of Us Research Program has the potential to be a rich source of social determinants of health data. However, user-friendly recommendations for scoring and interpreting the All of Us Social Determinants of Health Survey are needed to return value to communities through advancing researcher competencies in use of the All of Us Research Hub Researcher Workbench. We created a user guide aimed at providing researchers with an overview of the Social Determinants of Health Survey, recommendations for scoring and interpreting participant responses, and readily executable R and Python functions.

Target audience: This user guide targets registered users of the All of Us Research Hub Researcher Workbench, a cloud-based platform that supports analysis of All of Us data, who are currently conducting or planning to conduct analyses using the Social Determinants of Health Survey.

Scope: We introduce 14 constructs evaluated as part of the Social Determinants of Health Survey and summarize construct operationalization. We offer 30 literature-informed recommendations for scoring participant responses and interpreting scores, with multiple options available for 8 of the constructs. Then, we walk through example R and Python functions for relabeling responses and scoring constructs that can be directly implemented in Jupyter Notebook or RStudio within the Researcher Workbench. Full source code is available in supplemental files and GitHub. Finally, we discuss psychometric considerations related to the Social Determinants of Health Survey for researchers.

Importance and objective: Identifying sources of sex-based disparities is the first step in improving clinical outcomes for female patients. Using All of Us data, we examined the association of biological sex with cost-related medication adherence (CRMA) issues in patients with cardiovascular comorbidities.

Materials and methods: Retrospective data collection identified the following patients: 18 and older, completing personal medical history surveys, having hypertension (HTN), ischemic heart disease (IHD), or heart failure (HF) with medication use history consistent with these diagnoses. Implementing univariable and adjusted logistic regression, we assessed the influence of biological sex on 7 different patient-reported CRMA outcomes within HTN, IHD, and HF patients.

Results: Our study created cohorts of HTN (n = 3891), IHD (n = 5373), and HF (n = 2151) patients having CRMA outcomes data. Within each cohort, females were significantly more likely to report various cost-related medication issues: being unable to afford medications (HTN hazards ratio [HR]: 1.68, confidence interval [CI]: 1.33-2.13; IHD HR: 2.33, CI: 1.72-3.16; HF HR: 1.82, CI: 1.22-2.71), skipping doses (HTN HR: 1.76, CI: 1.30-2.39; IHD HR: 2.37, CI: 1.69-3.64; HF HR: 3.15, CI: 1.87-5.31), taking less medication (HTN HR: 1.86, CI: 1.37-2.45; IHD HR: 2.22, CI: 1.53-3.22; HF HR: 2.99, CI: 1.78-5.02), delaying filling prescriptions (HTN HR: 1.83, CI: 1.43-2.39; IHD HR: 2.02, CI: 1.48-2.77; HF HR: 2.99, CI: 1.79-5.03), and asking for lower cost medications (HTN HR: 1.41, CI: 1.16-1.72; IHD HR: 1.75, CI: 1.37-2.22; HF HR: 1.61, CI: 1.14-2.27).

Discussion and conclusion: Our results clearly demonstrate CRMA issues disproportionately affect female patients with cardiovascular comorbidities, which may contribute to the larger sex-based disparities in cardiovascular care. These findings call for targeted interventions and strategies to address these disparities and ensure equitable access to cardiovascular medications and care for all patients.

Objectives: Research participants value learning how their data contributions are advancing health research (ie, data stories). The All of Us Research Program gathered insights from program staff to learn what research topics they think are of interest to participants, what support staff need to communicate data stories, and how staff use data story dissemination tools.

Materials and methods: Using an online 25-item assessment, we collected information from All of Us staff at 7 Federally Qualified Health Centers.

Results: Topics of greatest interest or relevance included income insecurity (83%), diabetes (78%), and mental health (78%). Respondents prioritized in-person outreach in the community (70%) as a preferred setting to share data stories. Familiarity with available dissemination tools varied.

Discussion: Responses support prioritizing materials for in-person outreach and training staff how to use dissemination tools.

Conclusion: The findings will inform All of Us communication strategy, content, materials, and staff training resources to effectively deliver data stories as return of value to participants.

Objective: The NIH All of Us Research Program aims to advance personalized medicine by not only linking patient records, surveys, and genomic data but also engaging with participants, particularly from groups traditionally underrepresented in biomedical research (UBR). This study details how the dialogue between scientists and community members, including many from communities of color, shaped local research priorities.

Materials and methods: We recruited area quantitative, basic, and clinical scientists as well as community members from our Community and Participant Advisory Boards with a predetermined interest in All of Us research as members of a Special Interest Group (SIG). An expert community engagement scientist facilitated 6 SIG meetings over the year, explicitly fostering openness and flexibility during conversations. We qualitatively analyzed discussions using a social movement framework tailored for community-based participatory research (CBPR) mobilization.

Results: The SIG evolved through CBPR stages of emergence, coalescence, momentum, and maintenance/integration. Researchers prioritized community needs above personal academic interests while community members kept discussions focused on tangible return of value to communities. One key outcome includes SIG-driven shifts in programmatic and research priorities of the All of Us Research Program in Southeastern Wisconsin. One major challenge was building equitable conversations that balanced scientific rigor and community understanding.

Discussion: Our approach allowed for a rich dialogue to emerge. Points of connection and disconnection between community members and scientists offered important guidance for emerging areas of genomic inquiry.

Conclusion: Our study presents a robust foundation for future efforts to engage diverse communities in CBPR, particularly on healthcare concerns affecting UBR communities.

Objectives: The All of Us Research Program harnesses advances in technology, science, and engagement for precision medicine research. We describe informatics innovations which support that goal and return value to the participant cohort and community.

Materials and methods: Research data from the All of Us Research Program are available to authorized users on the All of Us Researcher Workbench. We describe the technical infrastructure that enables data access and usage for researchers. Participants are considered partners. To ensure return of value, we outline participant access to information.

Results: The All of Us Research Hub allows broad access to data, regardless of background. The innovations described are rooted in the program's core values: participation is open and reflects the diversity of the United States; participants are partners and have access to their information; transparency, security, and privacy are of the highest importance; data are broadly accessible; and the program promotes positive change. We assess research impact and reflect on how All of Us can increase existing return of value to participant communities through future informatics advancements.

Discussion: The program will continue to support efforts to ensure equitable access to data and return of value to participants. Looking ahead, we invite the community to join us.

Conclusion: All of Us research findings can change clinical care, inform guidelines, and set a new bar for data sharing. The ultimate return of value is better care for all.