SNOMED CT-based diagnosis value sets are simple to develop, concise, understandable to clinicians, useful in the EHR and for analytics, and shareable. Developing curated SNOMED CT hierarchy-based condition definitions for public use could accelerate cross-organizational population health efforts, "smarter" EHR feature configuration, and clinical-translational research employing EHR-derived data.

BackgroundDefining clinical phenotypes from electronic health record (EHR)–derived data proves crucial for clinical decision support, population health endeavors, and translational research. EHR diagnoses now commonly draw from a finely grained clinical terminology—either native SNOMED CT or a vendor-supplied terminology mapped to SNOMED CT concepts as the standard for EHR interoperability. Accordingly, electronic clinical quality measures (eCQMs) increasingly define clinical phenotypes with SNOMED CT value sets. The work of creating and maintaining list-based value sets proves daunting, as does insuring that their contents accurately represent the clinically intended condition.ObjectiveThe goal of the research was to compare an intensional (concept hierarchy-based) versus extensional (list-based) value set approach to defining clinical phenotypes using SNOMED CT–encoded data from EHRs by evaluating value set conciseness, time to create, and completeness.MethodsStarting from published Centers for Medicare and Medicaid Services (CMS) high-priority eCQMs, we selected 10 clinical conditions referenced by those eCQMs. For each, the published SNOMED CT list-based (extensional) value set was downloaded from the Value Set Authority Center (VSAC). Ten corresponding SNOMED CT hierarchy-based intensional value sets for the same conditions were identified within our EHR. From each hierarchy-based intensional value set, an exactly equivalent full extensional value set was derived enumerating all included descendant SNOMED CT concepts. Comparisons were then made between (1) VSAC-downloaded list-based (extensional) value sets, (2) corresponding hierarchy-based intensional value sets for the same conditions, and (3) derived list-based (extensional) value sets exactly equivalent to the hierarchy-based intensional value sets. Value set conciseness was assessed by the number of SNOMED CT concepts needed for definition. Time to construct the value sets for local use was measured. Value set completeness was assessed by comparing contents of the downloaded extensional versus intensional value sets. Two measures of content completeness were made: for individual SNOMED CT concepts and for the mapped diagnosis clinical terms available for selection within the EHR by clinicians.ResultsThe 10 hierarchy-based intensional value sets proved far simpler and faster to construct than exactly equivalent derived extensional value set lists, requiring a median 3 versus 78 concepts to define and 5 versus 37 minutes to build. The hierarchy-based intensional value sets also proved more complete: in comparison, the 10 downloaded 2018 extensional value sets contained a median of just 35% of the intensional value sets’ SNOMED CT concepts and 65% of mapped EHR clinical terms.ConclusionsIn the EHR era, defining conditions preferentially should employ SNOMED CT concept hierarchy-based (intensional) value sets rather than extensional lists. By doing so, clinical guideline and eCQM authors can more readily engage specialists in vetting condition subtypes to i...

Objective Determine whether women and men differ in volunteering to join a Research Recruitment Registry when invited to participate via an electronic patient portal without human bias. Materials and Methods Under-representation of women and other demographic groups in clinical research studies could be due either to invitation bias (explicit or implicit) during screening and recruitment or by lower rates of deciding to participate when offered. By making an invitation to participate in a Research Recruitment Registry available to all patients accessing our patient portal, regardless of demographics, we sought to remove implicit bias in offering participation and thus independently assess agreement rates. Results Women were represented in the Research Recruitment Registry slightly more than their proportion of all portal users (n = 194 775). Controlling for age, race, ethnicity, portal use, chronic disease burden, and other questionnaire use, women were statistically more likely to agree to join the Registry than men (odds ratio 1.17, 95% CI, 1.12–1.21). In contrast, Black males, Hispanics (of both sexes), and particularly Asians (both sexes) had low participation-to-population ratios; this under-representation persisted in the multivariable regression model. Discussion This supports the view that historical under-representation of women in clinical studies is likely due, at least in part, to implicit bias in offering participation. Distinguishing the mechanism for under-representation could help in designing strategies to improve study representation, leading to more effective evidence-based recommendations. Conclusion Patient portals offer an attractive option for minimizing bias and encouraging broader, more representative participation in clinical research.

Objectives We characterized real-time patient portal test result viewing among emergency department (ED) patients and described patient characteristics overall and among those not enrolled in the portal at ED arrival. Methods Our observational study at an academic ED used portal log data to trend the proportion of adult patients who viewed results during their visit from 4/5/2021 – 4/4/2022. Correlation was assessed visually and with Kendall’s . Covariate analysis using binary logistic regression assessed result(s) viewed as a function of time accounting for age, sex, ethnicity, race, language, insurance status, disposition, and social vulnerability index (SVI). A second model only included patients not enrolled in the portal at arrival. We used random forest imputation to account for missingness and Huber-White heteroskedasticity-robust standard errors for patients with multiple encounters. (⍺ = 0.05) Results There were 60,314 ED encounters (31,164 unique patients). In 7,377 (12.2%) encounters, patients viewed results while still in the ED. Patients were not enrolled for portal use at arrival in 21,158 (35.2%) encounters, and 927 (4.4% of not enrolled, 1.5% overall) subsequently enrolled and viewed results in the ED. Visual inspection suggests an increasing proportion of patients who viewed results from roughly 5% - 15% over the study (Kendall’s = 0.61 (P < 0.0001)). Overall and not-enrolled models yielded concordance indices (C) of 0.68 and 0.72, respectively, with significant overall likelihood ratio χ2 (P < 0.0001). Time was independently associated with viewing results in both models after adjustment. Models revealed disparate use between age, race, ethnicity, SVI, sex, insurance status, and disposition groups. Conclusions We observed increased portal-based test result viewing among ED patients over the year since the 21st Century Cures act went into effect, even among those not enrolled at arrival. We observed disparities in those who viewed results.

Background: Defining clinical phenotypes from EHR-derived data proves crucial for clinical decision support, population health endeavors, and translational research. EHR diagnoses now commonly draw from a finely-grained clinical terminologyeither native SNOMED CT, or a vendor-supplied terminology mapped to SNOMED CT concepts as the standard for EHR interoperability. Accordingly, electronic clinical quality measures (eCQMs) increasingly define clinical phenotypes with SNOMED CT value sets. The work of creating and maintaining list-based value sets proves daunting, as does vetting that their contents accurately represent the clinicallyintended condition. Objective: To compare an intensional (concept hierarchy-based) vs. extensional (list-based) value set approach to defining clinical phenotypes using SNOMED CT encoded data from EHRs, by evaluating value set conciseness, time to create, and completeness. Methods: Starting from published CMS 2018 high-priority eCQMs, we selected ten clinical conditions referenced by those eCQMs. For each, the published SNOMED CT list-based (extensional) value set was downloaded from the Value Set Authority Center (VSAC). Ten corresponding SNOMED CT hierarchy-based intensional value sets for the same conditions were identified within our EHR. From each hierarchybased intensional value set, an exactly equivalent full extensional value set was derived enumerating all included descendant SNOMED CT concepts. Comparisons were then made between (a) (VSAC) downloaded list-based (extensional) value sets, (b) corresponding hierarchy-based intensional value sets for the same conditions, and (c) derived list-based (extensional) value sets exactly equivalent to the hierarchy-based intensional value sets. Value set conciseness was assessed by the number of SNOMED CT concepts needed for definition. Time to construct the value sets for local use was measured. Value set completeness was assessed by comparing contents of the downloaded extensional vs. intensional value sets. Two measures of content completeness were made: for individual SNOMED CT concepts, and for the mapped diagnosis clinical terms available for selection within the EHR by clinicians. Results: The 10 hierarchy-based intensional value sets proved far simpler and faster to construct than exactly equivalent derived extensional value set lists, requiring a median 3 vs. 78 concepts to define, and 5 vs. 37 min to build. The hierarchy-based intensional value sets also proved more complete: in comparison, the 10 downloaded 2018 extensional value sets contained a median of just 35% of the intensional value sets' SNOMED CT concepts and 65% of mapped EHR clinical terms. Conclusions: In the EHR era, defining conditions preferentially should employ SNOMED CT concept hierarchy-based (intensional) value sets, rather than 1 extensional lists. By doing so, clinical guideline and eCQM authors can more readily engage specialists in vetting condition subtypes to include and exclude, and streamline broad EHR implementation of condition-specific ...