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Acute hepatic porphyria (AHP) is a group of rare but treatable conditions associated with diagnostic delays of 15 years on average. The advent of electronic health records (EHR) data and machine learning (ML) may improve the timely recognition of rare diseases like AHP. However, prediction models can be difficult to train given the limited case numbers, unstructured EHR data, and selection biases intrinsic to healthcare delivery. We sought to train [...]

Primary care pediatricians play an important role in genetic testing, including referrals, test ordering, responding to results, assessing risk, treatment, and managing care. As genetic testing rapidly evolves to include new tests identifying patients at risk for certain conditions, alert-based clinical decision support is insufficient in assisting pediatric primary care providers in working with patients, parents, genetics, and other specialties. Supporting pediatricians in the return of these results requires addressing [...]

Due to fear of stigma, patients want more control over the sharing of sensitive medical records. The Substance Abuse and Mental Health Administration (SAMHSA) and the Office of the National Coordinator (ONC) supported the development of standards-compliant, consent-respecting medical record exchange technology using metadata labeling (e.g., substance use information). Existing technologies must be updated with newer standards and support more than binary-sensitive categorizations to better align with how physicians categorize [...]

Data exploration in modern electronic health records (EHRs) is often aided by user-friendly graphical interfaces providing "self-service" tools for end users to extract data for quality improvement, patient safety, and research without prerequisite training in database querying. Other resources within the same institution, such as Honest Brokers, may extract data sourced from the same EHR but obtain different results leading to questions of data completeness and correctness.

Interoperability between electronic health records (EHR) and immunization information systems (IIS) may positively influence data quality, affecting timeliness, completeness, and accuracy of these data. However, the extent to which EHR/IIS interoperability may influence the day-to-day vaccination workflow and related recordkeeping tasks performed at medical practices is unclear.

Digital interventions are increasingly in demand to address mental health concerns, with significant potential to reach populations that disproportionately face barriers to accessing mental health care. Challenges with user engagement, however, persist. The goal of this study was to develop user personas to inform the development of a digital mental health intervention (DMHI) for a perinatal population.

Health systems are increasingly accountable for patients and require accurate electronic health record (EHR) vital status. We recently demonstrated that 19% of seriously ill primary care patients in one system were not marked dead in the EHR and 80% of these decedents had an encounter or appointment outstanding after death. Herein we describe the mechanism of identifying decedents whose death is not captured at the level of the EHR, characterize [...]

To improve the performance of a social risk score (a predictive risk model) using electronic health record (EHR) structured and unstructured data.