DEFINING THE MEDICAL RECORD: RELATIONSHIPS OF THE LEGAL MEDICAL RECORD, THE DESIGNATED RECORD SET, AND THE ELECTRONIC HEALTH RECORD.

Not so long ago, defining the "medical record" was simple. It was the paper chart-volume upon volume that captured the serial, dutifully recorded events of a person's health care at a hospital or physician's office. Entries were typically handwritten, dated and timed, and signed in ink with title (i.e., authenticated). Errors were easily identified by an authenticated strike-through. Similarly, the paper chart was synonymous with the legal medical record (LMR). In other words, a patient's paper chart was that patient's LMR by definition, even if critical data was omitted or irrelevant data was included. Fast-forward to 2021 and the use of technology for capturing the record of a patient's care. Technology has brought new challenges as well as successes. For example, pervasive and persistent mythologies include that 1) a patient's electronic health record (EHR) is the LMR, and 2) patient-specific EHR printouts to paper or disc-or displays on monitors-are necessarily equivalents to the paper chart of the 1980s. Neither are true. We now must define at the outset what is included in the LMR/designated record set to ensure the accuracy of what is retained and released.

Physician Use of Electronic Health Records: Survey Study Assessing Factors Associated With Provider Reported Satisfaction and Perceived Patient Impact.

BACKGROUND: The effect electronic health record (EHR) implementation has on physician satisfaction and patient care remains unclear. A better understanding of physician perceptions of EHRs and factors that influence those perceptions is needed to improve the physician and patient experience when using EHRs. OBJECTIVE: The objective of this study was to determine provider and clinical practice factors associated with physician EHR satisfaction and perception of patient impact. METHODS: We surveyed a random sample of physicians, including residents and fellows, at a US quaternary care academic hospital from February to March 2016. The survey assessed provider demographics, clinical practice factors (ie, attending, fellow, or resident), and overall EHR experience. The primary outcomes assessed were provider satisfaction and provider perceptions of impact to patient care. Responses on the satisfaction and patient impact questions were recorded on a continuous scale initially anchored at neutral (scale range 0 to 100: 0 defined as "extremely negatively" and 100 as "extremely positively"). Independent variables assessed included demographic and clinical practice factors, including perceived efficiency in using the EHR. One-way analysis of variance or the Kruskal-Wallis test was used for bivariate comparisons, and linear regression was used for multivariable modeling. RESULTS: Of 157 physicians, 111 (70.7%) completed the survey; 51.4% (57/111) of the respondents were attending physicians, and of those, 71.9% (41/57) reported a >50% clinical full-time-equivalency and half reported supervising residents >50% of the time. A total of 50.5% (56/111) of the respondents were primary care practitioners, previous EHR experience was evenly distributed, and 12.6% (14/111) of the total sample were EHR super-users. Responses to how our current EHR affects satisfaction were rated above the neutral survey anchor point (mean 58 [SD 22]), as were their perceptions as to how the EHR impacts the patient (mean 61 [SD 18]). In bivariate comparisons, only physician age, clinical role (resident, fellow, or attending), and perceived efficiency were associated with EHR satisfaction. In the linear regression models, physicians with higher reported perceived efficiency reported higher overall satisfaction and patient impact after controlling for other variables in the model. CONCLUSIONS: Physician satisfaction with EHRs and their perception of its impact on clinical care were generally positive, but physician characteristics, greater age, and attending level were associated with worse EHR satisfaction. Perceived efficiency is the factor most associated with physician satisfaction with EHRs when controlling for other factors. Understanding physician perceptions of EHRs may allow targeting of technology resources to ensure efficiency and satisfaction with EHR system use during clinical care.

A population-based approach for implementing change from opt-out to opt-in research permissions.

Due to recently proposed changes in the Common Rule regarding the collection of research preferences, there is an increased need for efficient methods to document opt-in research preferences at a population level. Previously, our institution developed an opt-out paper-based workflow that could not be utilized for research in a scalable fashion. This project was designed to demonstrate the feasibility of implementing an electronic health record (EHR)-based active opt-in research preferences program. The first phase of implementation required creating and disseminating a patient questionnaire through the EHR portal to populate discreet fields within the EHR indicating patients' preferences for future research study contact (contact) and their willingness to allow anonymised use of excess tissue and fluid specimens (biobank). In the second phase, the questionnaire was presented within a clinic nurse intake workflow in an obstetrical clinic. These permissions were tabulated in registries for use by investigators for feasibility studies and recruitment. The registry was also used for research patient contact management using a new EHR encounter type to differentiate research from clinical encounters. The research permissions questionnaire was sent to 59,670 patients via the EHR portal. Within four months, 21,814 responses (75% willing to participate in biobanking, and 72% willing to be contacted for future research) were received. Each response was recorded within a patient portal encounter to enable longitudinal analysis of responses. We obtained a significantly lower positive response from the 264 females who completed the questionnaire in the obstetrical clinic (55% volunteers for biobank and 52% for contact). We demonstrate that it is possible to establish a research permissions registry using the EHR portal and clinic-based workflows. This patient-centric, population-based, opt-in approach documents preferences in the EHR, allowing linkage of these preferences to health record information.

Identifying Falls Risk Screenings Not Documented with Administrative Codes Using Natural Language Processing.

Quality reporting that relies on coded administrative data alone may not completely and accurately depict providers' performance. To assess this concern with a test case, we developed and evaluated a natural language processing (NLP) approach to identify falls risk screenings documented in clinical notes of patients without coded falls risk screening data. Extracting information from 1,558 clinical notes (mainly progress notes) from 144 eligible patients, we generated a lexicon of 38 keywords relevant to falls risk screening, 26 terms for pre-negation, and 35 terms for post-negation. The NLP algorithm identified 62 (out of the 144) patients who falls risk screening documented only in clinical notes and not coded. Manual review confirmed 59 patients as true positives and 77 patients as true negatives. Our NLP approach scored 0.92 for precision, 0.95 for recall, and 0.93 for F-measure. These results support the concept of utilizing NLP to enhance healthcare quality reporting.

An i2b2-based, generalizable, open source, self-scaling chronic disease registry.

OBJECTIVE: Registries are a well-established mechanism for obtaining high quality, disease-specific data, but are often highly project-specific in their design, implementation, and policies for data use. In contrast to the conventional model of centralized data contribution, warehousing, and control, we design a self-scaling registry technology for collaborative data sharing, based upon the widely adopted Integrating Biology & the Bedside (i2b2) data warehousing framework and the Shared Health Research Information Network (SHRINE) peer-to-peer networking software. MATERIALS AND METHODS: Focusing our design around creation of a scalable solution for collaboration within multi-site disease registries, we leverage the i2b2 and SHRINE open source software to create a modular, ontology-based, federated infrastructure that provides research investigators full ownership and access to their contributed data while supporting permissioned yet robust data sharing. We accomplish these objectives via web services supporting peer-group overlays, group-aware data aggregation, and administrative functions. RESULTS: The 56-site Childhood Arthritis & Rheumatology Research Alliance (CARRA) Registry and 3-site Harvard Inflammatory Bowel Diseases Longitudinal Data Repository now utilize i2b2 self-scaling registry technology (i2b2-SSR). This platform, extensible to federation of multiple projects within and between research networks, encompasses >6000 subjects at sites throughout the USA. DISCUSSION: We utilize the i2b2-SSR platform to minimize technical barriers to collaboration while enabling fine-grained control over data sharing. CONCLUSIONS: The implementation of i2b2-SSR for the multi-site, multi-stakeholder CARRA Registry has established a digital infrastructure for community-driven research data sharing in pediatric rheumatology in the USA. We envision i2b2-SSR as a scalable, reusable solution facilitating interdisciplinary research across diseases.

Visual assessment of the spine bruckel instrument, a novel status tool to reflect appearance of the spine in patients with ankylosing spondylitis.

OBJECTIVE: The Visual Assessment of the Spine Bruckel Instrument (VASBI) is a new status tool developed by the Spondylitis Association of America and the University of Toronto to reflect spinal appearance in patients with ankylosing spondylitis (AS). Our objective was to validate the VASBI according to the Outcome Measures in Rheumatoid Arthritis Clinical Trials filter (truth, discrimination, and feasibility). METHODS: Three hundred patients with AS were asked to rate their degree of perceived spinal deformity using the VASBI. To evaluate construct validity, VASBI scores were compared with functional outcome, spinal mobility, and radiographic spinal damage. Test-retest reliability was evaluated using kappa statistic (kappa). RESULTS: Patient VASBI demonstrated strong correlation with spinal mobility (r = 0.543) and moderate correlation with functional impairment (r = 0.490) and structural damage (r = 0.309). Reliability for VASBI was very good (kappa = 0.973, p < 0.001). CONCLUSION: The VASBI is a novel tool with practical applications in a busy clinical setting as it simplifies assessment of AS spinal deformity. Our study demonstrates that the VASBI has good feasibility, construct validity, and reliability.

Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition.

BACKGROUND: Neonatal-onset multisystem inflammatory disease is characterized by fever, urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and mental retardation. Many patients have mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene, encoding cryopyrin, a protein that regulates inflammation. METHODS: We selected 18 patients with neonatal-onset multisystem inflammatory disease (12 with identifiable CIAS1 mutations) to receive anakinra, an interleukin-1-receptor antagonist (1 to 2 mg per kilogram of body weight per day subcutaneously). In 11 patients, anakinra was withdrawn at three months until a flare occurred. The primary end points included changes in scores in a daily diary of symptoms, serum levels of amyloid A and C-reactive protein, and the erythrocyte sedimentation rate from baseline to month 3 and from month 3 until a disease flare. RESULTS: All 18 patients had a rapid response to anakinra, with disappearance of rash. Diary scores improved (P<0.001) and serum amyloid A (from a median of 174 mg to 8 mg per liter), C-reactive protein (from a median of 5.29 mg to 0.34 mg per deciliter), and the erythrocyte sedimentation rate decreased at month 3 (all P<0.001), and remained low at month 6. Magnetic resonance imaging showed improvement in cochlear and leptomeningeal lesions as compared with baseline. Withdrawal of anakinra uniformly resulted in relapse within days; retreatment led to rapid improvement. There were no drug-related serious adverse events. CONCLUSIONS: Daily injections of anakinra markedly improved clinical and laboratory manifestations in patients with neonatal-onset multisystem inflammatory disease, with or without CIAS1 mutations. (ClinicalTrials.gov number, NCT00069329 [ClinicalTrials.gov].).

Juvenile-onset ankylosing spondylitis is associated with worse functional outcomes than adult-onset ankylosing spondylitis.

OBJECTIVE: To compare functional outcome of patients with juvenile-onset ankylosing spondylitis (JoAS; defined as AS with symptom onset before 16 years of age) with that of patients with adult-onset AS (AoAS) and to identify variables associated with a poor functional outcome of JoAS. METHODS: A cross-sectional study was performed of 326 JoAS patients who participated in a postal survey conducted by the Spondylitis Association of America. This cohort was compared with 2,021 AoAS patients who participated in the same survey. Simple and multiple logistic regression analyses were performed to identify differences with respect to clinical features, demographic features, and functional outcome (defined by the Bath Ankylosing Spondylitis Functional Index [BASFI]) between the 2 groups. A validation cohort of 255 AS patients was also surveyed. RESULTS: The mean +/- SD BASFI score (controlled for disease duration) for JoAS was 51.3 +/- 1.5 compared with 46.4 +/- 0.6 for AoAS (P < 0.0001). Multiple logistic regression identified only age (P < 0.0001) and income status (P < 0.0001) as factors associated with functional impairment. CONCLUSION: It appears that JoAS is a progressive disease and is associated with significant delay in diagnosis and worse functional outcome compared with AoAS. Furthermore, women do worse than men with JoAS. This would argue for the importance of early diagnosis and treatment of AS, particularly in the subgroup of patients with JoAS.

The molecular basis of complete complement C4A and C4B deficiencies in a systemic lupus erythematosus patient with homozygous C4A and C4B mutant genes.

The disease course of a complete C4-deficient patient in the U.S. was followed for 18 years. The patient experienced multiple episodes of infection, and he was diagnosed with systemic lupus erythematosus at age 9 years. The disease progressed to WHO class III mild lupus nephritis and to fatal CNS vasculitis at age 23 years. Immunochemical experiments showed that the patient and his sibling had complete absence of C4A and C4B proteins and were negative for the Rodgers and Chido blood group Ags. Segregation and definitive RFLP analyses demonstrated that the patient and his sibling inherited two identical haplotypes, HLA A2 B12 DR6, each of which carries a defective long C4A gene and a defective short C4B gene. PCR and DNA sequencing revealed that the mutant C4A contained a 2-bp insertion in exon 29 at the sequence for codon 1213. The identical mutation was absent in the mutant C4B. The C4B mutant gene was selectively amplified by long range PCR, and its 41 exons were completely sequenced. The C4B mutant had a novel single C nucleotide deletion at the sequence for codon 522 in exon 13, leading to frame-shift mutation and premature termination. Thus, a multiplex PCR is designed by which known mutations in C4A and C4B can be elucidated conveniently. Among the 28 individuals reported with complete C4 deficiency, 75-96% of the subjects (dependent on the inclusion criteria) were afflicted with autoimmune or immune complex disorders. Hence, complete C4 deficiency is one of the most penetrant genetic risk factors for human systemic lupus erythematosus.