OBJECTIVES: Missed and delayed cancer diagnoses are common, harmful, and often preventable. We previously validated a digital quality measure (dQM) of emergency presentation (EP) of lung cancer in 2 US health systems. This study aimed to apply the dQM to a new national electronic health record (EHR) database and examine demographic associations. MATERIALS AND METHODS: We applied the dQM (emergency encounter followed by new lung cancer diagnosis within 30 days) to Epic Cosmos, a deidentified database covering 184 million US patients. We examined dQM associations with sociodemographic factors. RESULTS: The overall EP rate was 19.6%. EP rate was higher in Black vs White patients (24% vs 19%, P < .001) and patients with younger age, higher social vulnerability, lower-income ZIP code, and self-reported transport difficulties. DISCUSSION: We successfully applied a dQM based on cancer EP to the largest US EHR database. CONCLUSION: This dQM could be a marker for sociodemographic vulnerabilities in cancer diagnosis.

OBJECTIVE: Development of clinical phenotypes from electronic health records (EHRs) can be resource intensive. Several phenotype libraries have been created to facilitate reuse of definitions. However, these platforms vary in target audience and utility. We describe the development of the Centralized Interactive Phenomics Resource (CIPHER) knowledgebase, a comprehensive public-facing phenotype library, which aims to facilitate clinical and health services research. MATERIALS AND METHODS: The platform was designed to collect and catalog EHR-based computable phenotype algorithms from any healthcare system, scale metadata management, facilitate phenotype discovery, and allow for integration of tools and user workflows. Phenomics experts were engaged in the development and testing of the site. RESULTS: The knowledgebase stores phenotype metadata using the CIPHER standard, and definitions are accessible through complex searching. Phenotypes are contributed to the knowledgebase via webform, allowing metadata validation. Data visualization tools linking to the knowledgebase enhance user interaction with content and accelerate phenotype development. DISCUSSION: The CIPHER knowledgebase was developed in the largest healthcare system in the United States and piloted with external partners. The design of the CIPHER website supports a variety of front-end tools and features to facilitate phenotype development and reuse. Health data users are encouraged to contribute their algorithms to the knowledgebase for wider dissemination to the research community, and to use the platform as a springboard for phenotyping. CONCLUSION: CIPHER is a public resource for all health data users available at https://phenomics.va.ornl.gov/ which facilitates phenotype reuse, development, and dissemination of phenotyping knowledge.

The development of phenotypes using electronic health records is a resource-intensive process. Therefore, the cataloging of phenotype algorithm metadata for reuse is critical to accelerate clinical research. The Department of Veterans Affairs (VA) has developed a standard for phenotype metadata collection which is currently used in the VA phenomics knowledgebase library, CIPHER (Centralized Interactive Phenomics Resource), to capture over 5000 phenotypes. The CIPHER standard improves upon existing phenotype library metadata collection by capturing the context of algorithm development, phenotyping method used, and approach to validation. While the standard was iteratively developed with VA phenomics experts, it is applicable to the capture of phenotypes across healthcare systems. We describe the framework of the CIPHER standard for phenotype metadata collection, the rationale for its development, and its current application to the largest healthcare system in the United States.

OBJECTIVE: Measures of diagnostic performance in cancer are underdeveloped. Electronic clinical quality measures (eCQMs) to assess quality of cancer diagnosis could help quantify and improve diagnostic performance. MATERIALS AND METHODS: We developed 2 eCQMs to assess diagnostic evaluation of red-flag clinical findings for colorectal (CRC; based on abnormal stool-based cancer screening tests or labs suggestive of iron deficiency anemia) and lung (abnormal chest imaging) cancer. The 2 eCQMs quantified rates of red-flag follow-up in CRC and lung cancer using electronic health record data repositories at 2 large healthcare systems. Each measure used clinical data to identify abnormal results, evidence of appropriate follow-up, and exclusions that signified follow-up was unnecessary. Clinicians reviewed 100 positive and 20 negative randomly selected records for each eCQM at each site to validate accuracy and categorized missed opportunities related to system, provider, or patient factors. RESULTS: We implemented the CRC eCQM at both sites, while the lung cancer eCQM was only implemented at the VA due to lack of structured data indicating level of cancer suspicion on most chest imaging results at Geisinger. For the CRC eCQM, the rate of appropriate follow-up was 36.0% (26 746/74 314 patients) in the VA after removing clinical exclusions and 41.1% at Geisinger (1009/2461 patients; P < .001). Similarly, the rate of appropriate evaluation for lung cancer in the VA was 61.5% (25 166/40 924 patients). Reviewers most frequently attributed missed opportunities at both sites to provider factors (84 of 157). CONCLUSIONS: We implemented 2 eCQMs to evaluate the diagnostic process in cancer at 2 large health systems. Health care organizations can use these eCQMs to monitor diagnostic performance related to cancer.