Enhancing Genetic Association Power in Endometriosis through Unsupervised Clustering of Clinical Subtypes Identified from Electronic Health Records.

Background: Endometriosis affects 10% of reproductive-age women, and yet, it goes undiagnosed for 3.6 years on average after symptoms onset. Despite large GWAS meta-analyses (N > 750,000), only a few dozen causal loci have been identified. We hypothesized that the challenges in identifying causal genes for endometriosis stem from heterogeneity across clinical and biological factors underlying endometriosis diagnosis. Methods: We extracted known endometriosis risk factors, symptoms, and concomitant conditions from the Penn Medicine Biobank (PMBB) and performed unsupervised spectral clustering on 4,078 women with endometriosis. The 5 clusters were characterized by utilizing additional electronic health record (EHR) variables, such as endometriosis-related comorbidities and confirmed surgical phenotypes. From four EHR-linked genetic datasets, PMBB, eMERGE, AOU, and UKBB, we extracted lead variants and tag variants 39 known endometriosis loci for association testing. We meta-analyzed ancestry-stratified case/control tests for each locus and cluster in addition to a positive control (Total N endometriosis cases = 10,108). Results: We have designated the five subtype clusters as pain comorbidities, uterine disorders, pregnancy complications, cardiometabolic comorbidities, and EHR-asymptomatic based on enriched features from each group. One locus, RNLS , surpassed the genome-wide significant threshold in the positive control. Thirteen more loci reached a Bonferroni threshold of 1.3 x 10 -3 (0.05 / 39) in the positive control. The cluster-stratified tests yielded more significant associations than the positive control for anywhere from 5 to 15 loci depending on the cluster. Bonferroni significant loci were identified for four out of five clusters, including WNT4 and GREB1 for the uterine disorders cluster, RNLS for the cardiometabolic cluster, FSHB for the pregnancy complications cluster, and SYNE1 and CDKN2B-AS1 for the EHR-asymptomatic cluster. This study enhances our understanding of the clinical presentation patterns of endometriosis subtypes, showcasing the innovative approach employed to investigate this complex disease.

Enabling a Learning Public Health System:Enhanced Surveillance of HIV and Other Sexually Transmitted Infections.

Sexually transmitted infections (STIs) continue to pose a substantial public health challenge in the United States (US). Surveillance, a cornerstone of disease control and prevention, can be strengthened to promote more timely, efficient, and equitable practices by incorporating health information exchange (HIE) and other large-scale health data sources into reporting. New York City patient-level electronic health record data between January 1, 2018 and June 30, 2023 were obtained from Healthix, the largest US public HIE. Healthix data were linked to neighborhood-level information from the American Community Survey. In this casecontrol study, chlamydia, gonorrhea, and HIV-positive cases were compared to controls to estimate the odds of receiving a specific laboratory test or positive result using generalized estimating equations with logit function and robust standard errors. Among 1,519,121 tests performed for chlamydia, 1,574,772 for gonorrhea, and 1,200,560 for HIV, 2%, 0.6% and 0.3% were positive for chlamydia, gonorrhea, and HIV, respectively. Chlamydia and gonorrhea co-occurred in 1,854 cases (7% of chlamydia and 21% of gonorrhea total cases). Testing behavior was often incongruent with geographic and sociodemographic patterns of positive cases. For example, people living in areas with the highest levels of poverty were less likely to test for gonorrhea but almost twice as likely to test positive compared to those in low poverty areas. Regional HIE enabled review of testing and cases using granular and complementary data not typically available given existing reporting practices. Enhanced surveillance spotlights potential incongruencies between testing patterns and STI risk in certain populations, signaling potential under- and over-testing. These and future insights derived from HIE data may be used to continuously inform public health practice and drive further improvements in provision and evaluation of services and programs.

Mining the health disparities and minority health bibliome: A computational scoping review and gap analysis of 200,000+ articles.

Without comprehensive examination of available literature on health disparities and minority health (HDMH), the field is left vulnerable to disproportionately focus on specific populations or conditions, curtailing our ability to fully advance health equity. Using scalable open-source methods, we conducted a computational scoping review of more than 200,000 articles to investigate major populations, conditions, and themes as well as notable gaps. We also compared trends in studied conditions to their relative prevalence using insurance claims (42 million Americans). HDMH publications represent 1% of articles in Medical Literature Analysis and Retrieval System Online (MEDLINE). Most studies are observational in nature, although randomized trial reporting has increased fivefold in the past 20 years. Half of HDMH articles concentrate on only three disease groups (cancer, mental health, and endocrine/metabolic disorders), while hearing, vision, and skin-related conditions are among the least well represented despite substantial prevalence. To support further investigation, we present HDMH Monitor, an interactive dashboard and repository generated from the HDMH bibliome.

Retrospective cohort study of wrong-patient imaging order errors: how many reach the patient?

Studying near-miss errors is essential to preventing errors from reaching patients. When an error is committed, it may be intercepted (near-miss) or it will reach the patient; estimates of the proportion that reach the patient vary widely. To better understand this relationship, we conducted a retrospective cohort study using two objective measures to identify wrong-patient imaging order errors involving radiation, estimating the proportion of errors that are intercepted and those that reach the patient. This study was conducted at a large integrated healthcare system using data from 1 January to 31 December 2019. The study used two outcome measures of wrong-patient orders: (1) wrong-patient orders that led to misadministration of radiation reported to the New York Patient Occurrence Reporting and Tracking System (NYPORTS) (misadministration events); and (2) wrong-patient orders identified by the Wrong-Patient Retract-and-Reorder (RAR) measure, a measure identifying orders placed for a patient, retracted and rapidly reordered by the same clinician on a different patient (near-miss events). All imaging orders that involved radiation were extracted retrospectively from the healthcare system data warehouse. Among 293 039 total eligible orders, 151 were wrong-patient orders (3 misadministration events, 148 near-miss events), for an overall rate of 51.5 per 100 000 imaging orders involving radiation placed on the wrong patient. Of all wrong-patient imaging order errors, 2% reached the patient, translating to 50 near-miss events for every 1 error that reached the patient. This proportion provides a more accurate and reliable estimate and reinforces the utility of systematic measure of near-miss errors as an outcome for preventative interventions.

Using a Health Information Exchange to Characterize Changes in HIV Viral Load Suppression and Disparities During the COVID-19 Pandemic in New York City.

Background: HIV viral suppression requires sustained engagement in care. The COVID-19 pandemic challenged care accessibility for many people living with HIV (PLWH). We used health information exchange data to evaluate the effect of pandemic-related disruptions in HIV care on viral load suppression (VLS) and to examine racial/ethnic disparities in VLS. Methods: We performed a retrospective observational cohort study of PLWH using data from a regional health information exchange in the New York City region between 1 January 2018 and 31 December 2022. We established 2 cohorts: PLWH who received HIV care in 2020 (cohort A) and PLWH who did not receive HIV care in 2020 (cohort B). We categorized HIV VLS outcomes as suppressed or not suppressed and calculated the prevalence of VLS between 2018 and 2022. We compared proportions using chi-square tests and used unadjusted and adjusted logistic regression to estimate the association among variables, including race/ethnicity, cohort, and VLS. Results: Of 5 301 578 patients, 34 611 met our inclusion criteria for PLWH, 11 653 for cohort A, and 3141 for cohort B. In 2019, cohort B had a lower prevalence of VLS than cohort A (86% vs 89%, P < .001). Between 2019 and 2021, VLS dropped significantly among cohort B (86% to 81%, P < .001) while staying constant in cohort A (89% to 89%, P = .62). By 2022, members of cohort B were less likely than cohort A to be receiving HIV care in New York City (74% vs 88%, P < .001). Within both cohorts, Black and Hispanic patients had lower odds of VLS than White patients. Conclusions: In New York City, VLS remained high among PLWH who continued to receive care in 2020 and dropped among PLWH who did not receive care. VLS was lower among Black and Hispanic patients even after controlling for receipt of care.

Mining the Health Disparities and Minority Health Bibliome: A Computational Scoping Review and Gap Analysis of 200,000+ Articles.

Without comprehensive examination of available literature on health disparities and minority health (HDMH), the field is left vulnerable to disproportionately focus on specific populations or conditions, curtailing our ability to fully advance health equity. Using scalable open-source methods, we conducted a computational scoping review of more than 200,000 articles to investigate major populations, conditions, and themes in the literature as well as notable gaps. We also compared trends in studied conditions to their relative prevalence in the general population using insurance claims (42MM Americans). HDMH publications represent 1% of articles in MEDLINE. Most studies are observational in nature, though randomized trial reporting has increased five-fold in the last twenty years. Half of all HDMH articles concentrate on only three disease groups (cancer, mental health, endocrine/metabolic disorders), while hearing, vision, and skin-related conditions are among the least well represented despite substantial prevalence. To support further investigation, we also present HDMH Monitor, an interactive dashboard and repository generated from the HDMH bibliome.

Large-scale characterization of gender differences in diagnosis prevalence and time to diagnosis.

We carry out an analysis of gender differences in patterns of disease diagnosis across four large observational health datasets and find that women are routinely older when first assigned most diagnoses. Among 112 acute and chronic diseases, women experience longer lengths of time between symptom onset and disease diagnosis than men for most diseases regardless of metric used, even when only symptoms common to both genders are considered. These findings are consistent for patients with private as well as government insurance. Our analysis highlights systematic gender differences in patterns of disease diagnosis and suggests that symptoms of disease are measured or weighed differently for women and men. Data and code leverage the open-source common data model and analytic code and results are publicly available.

Investigating Racial Disparities in Drug Prescriptions for Patients with Endometriosis.

Background: Endometriosis is a chronic disease with a long time to diagnosis and several known comorbidities that requires a range of treatments including of pain management and hormone-based medications. Racial disparities specific to endometriosis treatments are unknown. Objective: We aim to investigate differences in patterns of drug prescriptions specific to endometriosis management in Black and White patients prior to diagnosis and after diagnosis of endometriosis and compare these differences to racial disparities established in the general population. Study Design: We conduct a retrospective cohort study using observational health data from the IBM MarketScan® Multi-state Medicaid dataset. We identify a cohort of endometriosis patients consisting of women between the ages of 15 and 49 with an endometriosis-related surgical procedure and a diagnosis code for endometriosis within 30 days of this procedure. Cohort is further restricted to patients with at least 3 years of continuous observation prior to diagnosis.We identify a non-endometriosis cohort of women between the ages of 15 and 49 with no endometriosis diagnosis and at least 1 year of continuous observation. We compare prevalence of prescriptions across selected drug classes for Black vs. White endometriosis patients. We further examine prevalence differences in the non-endometriosis cohort and prevalence differences pre- and post-diagnosis in the endometriosis cohort. Results: The endometriosis cohort comprised 16,372 endometriosis patients (23.3% Black, 66.0% White). Of the 28 drug classes examined, 17 were prescribed significantly less in Black patients compared to 21 in non-endometriosis cohort (n=3,663,904), and 4 were prescribed significantly more in Black patients compared to 6 in the non-endometriosis cohort. Of the 17 drugs prescribed more often in White patients, 16 have larger disparities pre-diagnosis than post-diagnosis. Conclusions: Our analysis identified significant differences in medication prescriptions between White and Black patients with endometriosis, notably in hormonal treatments, pain management, and treatments for common endometriosis co-morbidities. Racial disparities in drug prescriptions are well established in healthcare, and better understanding these disparities in the specific context of chronic reproductive conditions and chronic pain is important for increasing equity in drug prescription practices.

Race and Ethnicity and Primary Language in Emergency Department Triage.

Importance: Emergency department (ED) triage substantially affects how long patients wait for care but triage scoring relies on few objective criteria. Prior studies suggest that Black and Hispanic patients receive unequal triage scores, paralleled by disparities in the depth of physician evaluations. Objectives: To examine whether racial disparities in triage scores and physician evaluations are present across a multicenter network of academic and community hospitals and evaluate whether patients who do not speak English face similar disparities. Design, Setting, and Participants: This was a cross-sectional, multicenter study examining adults presenting between February 28, 2019, and January 1, 2023, across the Mass General Brigham Integrated Health Care System, encompassing 7 EDs: 2 urban academic hospitals and 5 community hospitals. Analysis included all patients presenting with 1 of 5 common chief symptoms. Exposures: Emergency department nurse-led triage and physician evaluation. Main Outcomes and Measures: Average Triage Emergency Severity Index [ESI] score and average visit work relative value units [wRVUs] were compared across symptoms and between individual minority racial and ethnic groups and White patients. Results: There were 249 829 visits (149 861 female [60%], American Indian or Alaska Native 0.2%, Asian 3.3%, Black 11.8%, Hispanic 18.8%, Native Hawaiian or Other Pacific Islander <0.1%, White 60.8%, and patients identifying as Other race or ethnicity 5.1%). Median age was 48 (IQR, 29-66) years. White patients had more acute ESI scores than Hispanic or Other patients across all symptoms (eg, chest pain: Hispanic, 2.68 [95% CI, 2.67-2.69]; White, 2.55 [95% CI, 2.55-2.56]; Other, 2.66 [95% CI, 2.64-2.68]; P < .001) and Black patients across most symptoms (nausea/vomiting: Black, 2.97 [95% CI, 2.96-2.99]; White: 2.90 [95% CI, 2.89-2.91]; P < .001). These differences were reversed for wRVUs (chest pain: Black, 4.32 [95% CI, 4.25-4.39]; Hispanic, 4.13 [95% CI, 4.08-4.18]; White 3.55 [95% CI, 3.52-3.58]; Other 3.96 [95% CI, 3.84-4.08]; P < .001). Similar patterns were seen for patients whose primary language was not English. Conclusions and Relevance: In this cross-sectional study, patients who identified as Black, Hispanic, and Other race and ethnicity were assigned less acute ESI scores than their White peers despite having received more involved physician workups, suggesting some degree of mistriage. Clinical decision support systems might reduce these disparities but would require careful calibration to avoid replicating bias.

Representing and utilizing clinical textual data for real world studies: An OHDSI approach.

Clinical documentation in electronic health records contains crucial narratives and details about patients and their care. Natural language processing (NLP) can unlock the information conveyed in clinical notes and reports, and thus plays a critical role in real-world studies. The NLP Working Group at the Observational Health Data Sciences and Informatics (OHDSI) consortium was established to develop methods and tools to promote the use of textual data and NLP in real-world observational studies. In this paper, we describe a framework for representing and utilizing textual data in real-world evidence generation, including representations of information from clinical text in the Observational Medical Outcomes Partnership (OMOP) Common Data Model (CDM), the workflow and tools that were developed to extract, transform and load (ETL) data from clinical notes into tables in OMOP CDM, as well as current applications and specific use cases of the proposed OHDSI NLP solution at large consortia and individual institutions with English textual data. Challenges faced and lessons learned during the process are also discussed to provide valuable insights for researchers who are planning to implement NLP solutions in real-world studies.

Older Adult Engagement With Symptom Reporting in a COVID-19 Citizen Science Application.

The current study examined the frequency and predictors of older adults' engagement with symptom reporting in COVIDWATCHER, a mobile health (mHealth) citizen science application. Citizen science is a type of participatory research that leverages information provided by community members. There were 1,028 COVIDWATCHER participants who engaged with symptom reporting between April 2020 and January 2021. Approximately 13.5% (n = 139) were adults aged ≥65 years. We used a Wilcoxon test to compare the mean frequency of engagement with symptom reporting by older adults (i.e., aged ≥65 years) to younger adults (i.e., aged ≤64 years) and multivariable linear regression to explore the predictors of engagement with symptom reporting. There was a significant difference in engagement with symptom reporting between adults aged ≥65 years compared to those aged ≤64 years (p < 0.001). In our final model, age (ß = 26.0; 95% confidence interval [14.8, 34.2]) was a significant predictor for engagement with symptom reporting. These results help further our understanding of older adult engagement with mHealth-enabled citizen science for symptom reporting. [Journal of Gerontological Nursing, 49(4), 6-11.].

Reduced model for female endocrine dynamics: Validation and functional variations.

A normally functioning menstrual cycle requires significant crosstalk between hormones originating in ovarian and brain tissues. Reproductive hormone dysregulation may cause abnormal function and sometimes infertility. The inherent complexity in this endocrine system is a challenge to identifying mechanisms of cycle disruption, particularly given the large number of unknown parameters in existing mathematical models. We develop a new endocrine model to limit model complexity and use simulated distributions of unknown parameters for model analysis. By employing a comprehensive model evaluation, we identify a collection of mechanisms that differentiate normal and abnormal phenotypes. We also discover an intermediate phenotype-displaying relatively normal hormone levels and cycle dynamics-that is grouped statistically with the irregular phenotype. Results provide insight into how clinical symptoms associated with ovulatory disruption may not be detected through hormone measurements alone.

Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female-Specific Health Conditions.

Background Cardiometabolic diseases are highly comorbid, but their relationship with female-specific or overwhelmingly female-predominant health conditions (breast cancer, endometriosis, pregnancy complications) is understudied. This study aimed to estimate the cross-trait genetic overlap and influence of genetic burden of cardiometabolic traits on health conditions unique to women. Methods and Results Using electronic health record data from 71 008 ancestrally diverse women, we examined relationships between 23 obstetrical/gynecological conditions and 4 cardiometabolic phenotypes (body mass index, coronary artery disease, type 2 diabetes, and hypertension) by performing 4 analyses: (1) cross-trait genetic correlation analyses to compare genetic architecture, (2) polygenic risk score-based association tests to characterize shared genetic effects on disease risk, (3) Mendelian randomization for significant associations to assess cross-trait causal relationships, and (4) chronology analyses to visualize the timeline of events unique to groups of women with high and low genetic burden for cardiometabolic traits and highlight the disease prevalence in risk groups by age. We observed 27 significant associations between cardiometabolic polygenic scores and obstetrical/gynecological conditions (body mass index and endometrial cancer, body mass index and polycystic ovarian syndrome, type 2 diabetes and gestational diabetes, type 2 diabetes and polycystic ovarian syndrome). Mendelian randomization analysis provided additional evidence of independent causal effects. We also identified an inverse association between coronary artery disease and breast cancer. High cardiometabolic polygenic scores were associated with early development of polycystic ovarian syndrome and gestational hypertension. Conclusions We conclude that polygenic susceptibility to cardiometabolic traits is associated with elevated risk of certain female-specific health conditions.

Machine Learning Methods for Predicting Patient-Level Emergency Department Workload.

BACKGROUND: Work Relative Value Units (wRVUs) are a component of many compensation models, and a proxy for the effort required to care for a patient. Accurate prediction of wRVUs generated per patient at triage could facilitate real-time load balancing between physicians and provide many practical operational and clinical benefits. OBJECTIVE: We examined whether deep-learning approaches could predict the wRVUs generated by a patient's visit using data commonly available at triage. METHODS: Adult patients presenting to an urban, academic emergency department from July 1, 2016-March 1, 2020 were included. Deidentified triage information included structured data (age, sex, vital signs, Emergency Severity Index score, language, race, standardized chief complaint) and unstructured data (free-text chief complaint) with wRVUs as outcome. Five models were examined: average wRVUs per chief complaint, linear regression, neural network and gradient-boosted tree on structured data, and neural network on unstructured textual data. Models were evaluated using mean absolute error. RESULTS: We analyzed 204,064 visits between July 1, 2016 and March 1, 2020. The median wRVUs were 3.80 (interquartile range 2.56-4.21), with significant effects of age, gender, and race. Models demonstrated lower error as complexity increased. Predictions using averages from chief complaints alone demonstrated a mean error of 2.17 predicted wRVUs per visit (95% confidence interval [CI] 2.07-2.27), the linear regression model: 1.00 wRVUs (95% CI 0.97-1.04), gradient-boosted tree: 0.85 wRVUs (95% CI 0.84-0.86), neural network with structured data: 0.86 wRVUs (95% CI 0.85-0.87), and neural network with unstructured data: 0.78 wRVUs (95% CI 0.76-0.80). CONCLUSIONS: Chief complaints are a poor predictor of the effort needed to evaluate a patient; however, deep-learning techniques show promise. These algorithms have the potential to provide many practical applications, including balancing workloads and compensation between emergency physicians, quantify crowding and mobilizing resources, and reducing bias in the triage process.

What are the Desired Characteristics of Calibration Sets? Identifying Correlates on Long Form Scientific Summarization.

Summarization models often generate text that is poorly calibrated to quality metrics because they are trained to maximize the likelihood of a single reference (MLE). To address this, recent work has added a calibration step, which exposes a model to its own ranked outputs to improve relevance or, in a separate line of work, contrasts positive and negative sets to improve faithfulness. While effective, much of this work has focused on how to generate and optimize these sets. Less is known about why one setup is more effective than another. In this work, we uncover the underlying characteristics of effective sets. For each training instance, we form a large, diverse pool of candidates and systematically vary the subsets used for calibration fine-tuning. Each selection strategy targets distinct aspects of the sets, such as lexical diversity or the size of the gap between positive and negatives. On three diverse scientific long-form summarization datasets (spanning biomedical, clinical, and chemical domains), we find, among others, that faithfulness calibration is optimal when the negative sets are extractive and more likely to be generated, whereas for relevance calibration, the metric margin between candidates should be maximized and surprise-the disagreement between model and metric defined candidate rankings-minimized. Code to create, select, and optimize calibration sets is available at https://github.com/griff4692/calibrating-summaries.

Auditing Learned Associations in Deep Learning Approaches to Extract Race and Ethnicity from Clinical Text.

Complete and accurate race and ethnicity (RE) patient information is important for many areas of biomedical informatics research, such as defining and characterizing cohorts, performing quality assessments, and identifying health inequities. Patient-level RE data is often inaccurate or missing in structured sources, but can be supplemented through clinical notes and natural language processing (NLP). While NLP has made many improvements in recent years with large language models, bias remains an often-unaddressed concern, with research showing that harmful and negative language is more often used for certain racial/ethnic groups than others. We present an approach to audit the learned associations of models trained to identify RE information in clinical text by measuring the concordance between model-derived salient features and manually identified RE-related spans of text. We show that while models perform well on the surface, there exist concerning learned associations and potential for future harms from RE-identification models if left unaddressed.

Examining AI Methods for Micro-Coaching Dialogs.

Conversational interaction, for example through chatbots, is well-suited to enable automated health coaching tools to support self-management and prevention of chronic diseases. However, chatbots in health are predominantly scripted or rule-based, which can result in a stagnant and repetitive user experience in contrast with more dynamic, data-driven chatbots in other domains. Consequently, little is known about the tradeoffs of pursuing data-driven approaches for health chatbots. We examined multiple artificial intelligence (AI) approaches to enable micro-coaching dialogs in nutrition - brief coaching conversations related to specific meals, to support achievement of nutrition goals - and compared, reinforcement learning (RL), rule-based, and scripted approaches for dialog management. While the data-driven RL chatbot succeeded in shorter, more efficient dialogs, surprisingly the simplest, scripted chatbot was rated as higher quality, despite not fulfilling its task as consistently. These results highlight tensions between scripted and more complex, data-driven approaches for chatbots in health.

Women's Experiences of Symptoms of Suspected or Confirmed COVID-19 Illness During the Pandemic.

OBJECTIVE: To explore experiences of symptoms of suspected or confirmed COVID-19 illness among women using the CovidWatcher mobile citizen science app. DESIGN: Convergent parallel mixed-methods design. PARTICIPANTS: Twenty-eight self-identified women consented for follow-up after using CovidWatcher. Participants' ages ranged from 18 to 83 years old. METHODS: We collected data via semistructured, virtual interviews and surveys: the COVID-19 Exposure and Family Impact Survey and Patient-Reported Outcomes Measurement Information System measures. We used directed content analysis to develop codes, categories, themes, and subthemes from the qualitative data and summarized survey data with descriptive statistics. RESULTS: We derived five themes related to symptom experiences: (a) Physical Symptoms, (b) Mental Health Symptoms, (c) Symptom Intensity, (d) Symptom Burden, and (e) Symptom Trajectories. Subthemes reflected more nuanced experiences of suspected or confirmed COVID-19 disease. For those without COVID-19, anxiety and mental health symptoms were still present. Of those who attested to one of the PROMIS-measured symptoms, all but one had at least mild severity in one of their reported symptoms. CONCLUSION: This study demonstrates the cross-cutting impact of the COVID-19 pandemic on individuals who identify as women. Future research and clinical practice guidelines should focus on alleviating physical and mental health symptoms related to the ongoing pandemic, regardless of COVID-19 diagnosis. Furthermore, clinicians should consider how patients can use symptom reconciliation apps and tracking systems.

An interactive fitness-for-use data completeness tool to assess activity tracker data.

OBJECTIVE: To design and evaluate an interactive data quality (DQ) characterization tool focused on fitness-for-use completeness measures to support researchers' assessment of a dataset. MATERIALS AND METHODS: Design requirements were identified through a conceptual framework on DQ, literature review, and interviews. The prototype of the tool was developed based on the requirements gathered and was further refined by domain experts. The Fitness-for-Use Tool was evaluated through a within-subjects controlled experiment comparing it with a baseline tool that provides information on missing data based on intrinsic DQ measures. The tools were evaluated on task performance and perceived usability. RESULTS: The Fitness-for-Use Tool allows users to define data completeness by customizing the measures and its thresholds to fit their research task and provides a data summary based on the customized definition. Using the Fitness-for-Use Tool, study participants were able to accurately complete fitness-for-use assessment in less time than when using the Intrinsic DQ Tool. The study participants perceived that the Fitness-for-Use Tool was more useful in determining the fitness-for-use of a dataset than the Intrinsic DQ Tool. DISCUSSION: Incorporating fitness-for-use measures in a DQ characterization tool could provide data summary that meets researchers needs. The design features identified in this study has potential to be applied to other biomedical data types. CONCLUSION: A tool that summarizes a dataset in terms of fitness-for-use dimensions and measures specific to a research question supports dataset assessment better than a tool that only presents information on intrinsic DQ measures.