Designing a System for Patients Controlling Providers’ Access to their Electronic Health Records: Organizational and Technical Challenges

BACKGROUND Electronic health records (EHRs) are proliferating, and financial incentives encourage their use. Applying Fair Information Practice principles to EHRs necessitates balancing patients’ rights to control their personal information with providers’ data needs to deliver safe, high-quality care. We describe the technical and organizational challenges faced in capturing patients’ preferences for patient-controlled EHR access and applying those preferences to an existing EHR. METHODS We established an online system for capturing patients’ preferences for who could view their EHRs (listing all participating clinic providers individually and categorically—physicians, nurses, other staff) and what data to redact (none, all, or by specific categories of sensitive data or patient age). We then modified existing data-viewing software serving a state-wide health information exchange and a large urban health system and its primary care clinics to allow patients’ preferences to guide data displays to providers. RESULTS Patients could allow or restrict data displays to all clinicians and staff in a demonstration primary care clinic, categories of providers (physicians, nurses, others), or individual providers. They could also restrict access to all EHR data or any or all of five categories of sensitive data (mental and reproductive health, sexually transmitted diseases, HIV/AIDS, and substance abuse) and for specific patient ages. The EHR viewer displayed data via reports, data flowsheets, and coded and free text data displayed by Google-like searches. Unless patients recorded restrictions, by default all requested data were displayed to all providers. Data patients wanted restricted were not displayed, with no indication they were redacted. Technical barriers prevented redacting restricted information in free textnotes. The program allowed providers to hit a “Break the Glass” button to override patients’ restrictions, recording the date, time, and next screen viewed. Establishing patient-control over EHR data displays was complex and required ethical, clinical, database, and programming expertise and difficult choices to overcome technical and health system constraints. CONCLUSIONS Assessing patients’ preferences for access to their EHRs and applying them in clinical practice requires wide-ranging technical, clinical, and bioethical expertise, to make tough choices to overcome significant technical and organization challenges

Provider Responses to Patients Controlling Access to their Electronic Health Records: A Prospective Cohort Study in Primary Care

Introduction: Applying Fair Information Practice principles to electronic health records (EHRs) requires allowing patient control over who views their data. Methods: We designed a program that captures patients’ preferences for provider access to an urban health system’s EHR. Patients could allow or restrict providers’ access to all data (diagnoses, medications, test results, reports, etc.) or only highly sensitive data (sexually transmitted infections, HIV/AIDS, drugs/alcohol, mental or reproductive health). Except for information in free-text reports, we redacted EHR data shown to providers according to patients’ preferences. Providers could “Break the Glass” to display redacted information. We prospectively studied this system in one primary care clinic, noting redactions and when users “Broke the Glass,” and surveyed providers about their experiences and opinions. Results: Eight of 9 eligible clinic physicians and all 23 clinic staff participated. All 105 patients who enrolled completed the preference program.. Providers did not know which of their patients were enrolled and nor their preferences for accessing their EHRs. During the six-month prospective study, 92 study patients (88%) returned 261 times during which providers viewed their EHRs 126 times (48%). Providers “broke the glass” 102 times, 92 times for patients not in the study and 10 times for 6 returning study patients, all of whom had restricted EHR access. Providers “broke the glass” for 6 (14%) of 43 returning study patients with redacted data vs. zero among 49 study patients without redactions (p=0.01). Although 54% of providers agreed that patients should have control over who sees their EHR information, 58% believed restricting EHR access could harm provider-patient relationships and 71% felt quality of care would suffer. Conclusions: Patients frequently preferred restricting provider access to their EHRs. Providers infrequently overrode patients’ preferences to view hidden data. Providers believed restricting EHR access would adversely impact patient care. Applying Fair Information Practice principles to EHRs will require balancing patient preferences, providers’ needs, and health care quality.This study was supported in part by grant number 90HT005 from the Office of the National Coordinator for Health Information Technology (ONC) to the Indiana Health Information Technology Corporation. The opinions expressed in this work are the authors’ and do not necessarily reflect the positions of ONC, IHIT, Eskenazi Health, Indiana University, or the Regenstrief Institute, Inc

Renal HIV Expression Is Unaffected by Serum LPS Levels in an HIV Transgenic Mouse Model of LPS Induced Kidney Injury

Acute kidney injury (AKI) is associated with increased rates of mortality. For unknown reasons, HIV infected individuals have a higher risk of AKI than uninfected persons. We tested our hypothesis that increased circulating LPS increases renal expression of HIV and that HIV transgenic (Tg26) mice have increased susceptibility to AKI. Tg26 mice harbor an HIV transgene encoding all HIV genes except gag and pol, and develop a phenotype analogous to HIVAN. Mice were used at 4–6 weeks of age before the onset of gross renal disease. Mice were injected i.p. with LPS or sterile saline. Renal function, tubular injury, cytokine expression, and HIV transcription were evaluated in Tg26 and wild type (WT) mice. LPS injection induced a median 60.1-fold increase in HIV expression in spleen but no change in kidney. There was no significant difference in renal function, cytokine expression, or tubular injury scores at baseline or 24 hours after LPS injection. HIV transcription was also analyzed in vitro using a human renal tubular epithelial cell (RTEC) line. HIV transcription increased minimally in human RTEC, by 1.47 fold, 48 hours after LPS exposure. We conclude that Tg26 mice do not increase HIV expression or have increased susceptibility to LPS induced AKI. The increased risk of AKI in HIV infected patients is not mediated via increased renal expression of HIV in the setting of sepsis. Moreover, renal regulation of HIV transcription is different to that in the spleen

Genetically-Directed, Cell Type-Specific Sparse Labeling for the Analysis of Neuronal Morphology

Background: In mammals, genetically-directed cell labeling technologies have not yet been applied to the morphologic analysis of neurons with very large and complex arbors, an application that requires extremely sparse labeling and that is only rendered practical by limiting the labeled population to one or a few predetermined neuronal subtypes. Methods and Findings: In the present study we have addressed this application by using CreER technology to noninvasively label very small numbers of neurons so that their morphologies can be fully visualized. Four lines of IRES-CreER knock-in mice were constructed to permit labeling selectively in cholinergic or catecholaminergic neurons [choline acetyltransferase (ChAT)-IRES-CreER or tyrosine hydroxylase (TH)-IRES-CreER], predominantly in projection neurons [neurofilament light chain (NFL)-IRES-CreER], or broadly in neurons and some glia [vesicle-associated membrane protein2 (VAMP2)-IRES-CreER]. When crossed to the Z/AP reporter and exposed to 4-hydroxytamoxifen in the early postnatal period, the number of neurons expressing the human placental alkaline phosphatase reporter can be reproducibly lowered to fewer than 50 per brain. Sparse Cre-mediated recombination in ChAT-IRES-CreER;Z/AP mice shows the full axonal and dendritic arbors of individual forebrain cholinergic neurons, the first time that the complete morphologies of these very large neurons have been revealed in any species. Conclusions: Sparse genetically-directed, cell type-specific neuronal labeling with IRES-creER lines should prove useful fo

Synaptic processes and immune-related pathways implicated in Tourette syndrome.

Tourette syndrome (TS) is a neuropsychiatric disorder of complex genetic architecture involving multiple interacting genes. Here, we sought to elucidate the pathways that underlie the neurobiology of the disorder through genome-wide analysis. We analyzed genome-wide genotypic data of 3581 individuals with TS and 7682 ancestry-matched controls and investigated associations of TS with sets of genes that are expressed in particular cell types and operate in specific neuronal and glial functions. We employed a self-contained, set-based association method (SBA) as well as a competitive gene set method (MAGMA) using individual-level genotype data to perform a comprehensive investigation of the biological background of TS. Our SBA analysis identified three significant gene sets after Bonferroni correction, implicating ligand-gated ion channel signaling, lymphocytic, and cell adhesion and transsynaptic signaling processes. MAGMA analysis further supported the involvement of the cell adhesion and trans-synaptic signaling gene set. The lymphocytic gene set was driven by variants in FLT3, raising an intriguing hypothesis for the involvement of a neuroinflammatory element in TS pathogenesis. The indications of involvement of ligand-gated ion channel signaling reinforce the role of GABA in TS, while the association of cell adhesion and trans-synaptic signaling gene set provides additional support for the role of adhesion molecules in neuropsychiatric disorders. This study reinforces previous findings but also provides new insights into the neurobiology of TS

Synaptic processes and immune-related pathways implicated in Tourette syndrome

Tourette syndrome (TS) is a neuropsychiatric disorder of complex genetic architecture involving multiple interacting genes. Here, we sought to elucidate the pathways that underlie the neurobiology of the disorder through genome-wide analysis. We analyzed genome-wide genotypic data of 3581 individuals with TS and 7682 ancestry-matched controls and investigated associations of TS with sets of genes that are expressed in particular cell types and operate in specific neuronal and glial functions. We employed a self-contained, set-based association method (SBA) as well as a competitive gene set method (MAGMA) using individual-level genotype data to perform a comprehensive investigation of the biological background of TS. Our SBA analysis identified three significant gene sets after Bonferroni correction, implicating ligand-gated ion channel signaling, lymphocytic, and cell adhesion and transsynaptic signaling processes. MAGMA analysis further supported the involvement of the cell adhesion and trans-synaptic signaling gene set. The lymphocytic gene set was driven by variants in FLT3, raising an intriguing hypothesis for the involvement of a neuroinflammatory element in TS pathogenesis. The indications of involvement of ligand-gated ion channel signaling reinforce the role of GABA in TS, while the association of cell adhesion and trans-synaptic signaling gene set provides additional support for the role of adhesion molecules in neuropsychiatric disorders. This study reinforces previous findings but also provides new insights into the neurobiology of TS

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data