Pharmacogenomics Cascade Testing (PhaCT): A Novel Approach for Preemptive Pharmacogenomics Testing to Optimize Medication Therapy

The implementation of pharmacogenomics (PGx) has come a long way since the dawn of utilizing pharmacogenomic data in clinical patient care. However, the potential benefits of sharing PGx results have yet to be explored. In this paper, we explore the willingness of patients to share PGx results, as well as the inclusion of family medication history in identifying potential family members for pharmacogenomics cascade testing (PhaCT). The genetic similarities in families allow for identifying potential gene variants prior to official preemptive testing. Once a candidate patient is determined, PhaCT can be initiated. PhaCT recognizes that further cascade testing throughout a family can serve to improve precision medicine. In order to make PhaCT feasible, we propose a novel shareable HIPAA-compliant informatics platform that will enable patients to manage not only their own test results and medications but also those of their family members. The informatics platform will be an external genomics system with capabilities to integrate with patients’ electronic health records. Patients will be given the tools to provide information to and work with clinicians in identifying family members for PhaCT through this platform. Offering patients the tools to share PGx results with their family members for preemptive testing could be the key to empowering patients. Clinicians can utilize PhaCT to potentially improve medication adherence, which may consequently help to distribute the burden of health management between patients, family members, providers, and payers

Operationalizing Healthcare Big Data in the Electronic Health Records using a Heatmap Visualization Technique

Background: The majority of the electronic health record (EHR) contains a wealth of information, including unstructured notes. Healthcare professionals may be missing substantial portions of essential diagnostic and treatment information by not focusing on unstructured texts. The objective of this study is to present progress notes data using heatmap visualization. Methods: In this study, the research team used the unstructured text from the progress notes of deidentified patient data. The research team conducted qualitative content-coding based on the clinical complexity model and developed a heatmap based on the processed frequency data. Result: The researchers developed a color-coded heatmap focusing on the severity and acuity of patients’ status accumulated through multiple previous patient’s visits. Conclusions: Future research into creating an automated process to generate the heatmap from an unstructured dataset can open up opportunities to operationalize big data in healthcare

Artificial Intelligent Context-Aware Machine-Learning Tool to Detect Adverse Drug Events from Social Media Platforms

Introduction Pharmacovigilance (PV) has proven to detect post-marketing adverse drug events (ADE). Previous research used the natural language processing (NLP) tool to extract unstructured texts relevant to ADEs. However, texts without context reduce the efficiency of such algorithms. Our objective was to develop and validate an innovative NLP tool, aTarantula, using a context-aware machine-learning algorithm to detect existing ADEs from social media using an aggregated lexicon. Method aTarantula utilized FastText embeddings and an aggregated lexicon to extract contextual data from three patient forums (i.e., MedHelp, MedsChat, and PatientInfo) taking warfarin. The lexicon used warfarin package inserts and synonyms of warfarin ADEs from UMLS and FAERS databases. Data was stored on SQLite and then refined and manually checked by three clinical pharmacists for validation. Results Multiple organ systems where the most frequent ADE were reported at 1.50%, followed by CNS side effects at 1.19%. Lymphatic system ADEs were the least common side effect reported at 0.09%. The overall Spearman rank correlation coefficient between patient-reported data from the forums and FAERS was 0.19. As determined by pharmacist validation, aTarantula had a sensitivity of 84.2% and a specificity of 98%. Three clinical pharmacists manually validated our results. Finally, we created an aggregated lexicon for mining ADEs from social media. Conclusion We successfully developed aTarantula, a machine-learning algorithmn based on artificial intelligence to extract warfarin-related ADEs from online social discussion forums automatically. Our study shows that it is feasible to use aTarantula to detect ADEs. Future researchers can validate aTarantula on the diverse dataset

The Inclusion of Health Data Standards in the Implementation of Pharmacogenomics Systems: A Scoping Review

Background: Despite potential benefits, the practice of incorporating pharmacogenomics (PGx) results in clinical decisions has yet to diffusewidely. In this study,we conducted a review of recent discussions on data standards and interoperability with a focus on sharing PGx test results among health systems. Materials & methods:We conducted a literature search for PGx clinical decision support systems between 1 January 2012 and 31 January 2020. Thirty-two out of 727 articles were included for the final review. Results: Nine of the 32 articles mentioned data standards and only four of the 32 articles provided solutions for the lack of interoperability. Discussions: Although PGx interoperability is essential for widespread implementation, a lack of focus on standardized data creates a formidable challenge for health information exchange. Conclusion: Standardization of PGx data is essential to improve health information exchange and the sharing of PGx results between disparate systems. However, PGx data standards and interoperability are often not addressed in the system-level implementation

Scoping Review: The Empowerment of Alzheimer’s Disease Caregivers with mHealth Applications

Alzheimer’s Disease (AD) is one of the most prevalent neurodegenerative chronic diseases. As it progresses, patients become increasingly dependent, and their caregivers are burdened with the increasing demand for managing their care. Mobile health (mHealth) technology, such as smartphone applications, can support the need of these caregivers. This paper examines the published academic literature of mHealth applications that support the caregivers of AD patients. Following the PRISMA for scoping reviews, we searched published literature in five electronic databases between January 2014 and January 2021. Twelve articles were included in the final review. Six themes emerged based on the functionalities provided by the reviewed applications for caregivers. They are tracking, task management, monitoring, caregiver mental support, education, and caregiver communication platform. The review revealed that mHealth applications for AD patients’ caregivers are inadequate. There is an opportunity for industry, government, and academia to fill the unmet need of these caregiver

Artificial Intelligence–Powered Smartphone App to Facilitate Medication Adherence: Protocol for a Human Factors Design Study

Background: Medication Guides consisting of crucial interactions and side effects are extensive and complex. Due to the exhaustive information, patients do not retain the necessary medication information, which can result in hospitalizations and medication nonadherence. A gap exists in understanding patients’ cognition of managing complex medication information. However, advancements in technology and artificial intelligence (AI) allow us to understand patient cognitive processes to design an app to better provide important medication information to patients. Objective: Our objective is to improve the design of an innovative AI- and human factor–based interface that supports patients’ medication information comprehension that could potentially improve medication adherence. Methods: This study has three aims. Aim 1 has three phases: (1) an observational study to understand patient perception of fear and biases regarding medication information, (2) an eye-tracking study to understand the attention locus for medication information, and (3) a psychological refractory period (PRP) paradigm study to understand functionalities. Observational data will be collected, such as audio and video recordings, gaze mapping, and time from PRP. A total of 50 patients, aged 18-65 years, who started at least one new medication, for which we developed visualization information, and who have a cognitive status of 34 during cognitive screening using the TICS-M test and health literacy level will be included in this aim of the study. In Aim 2, we will iteratively design and evaluate an AI-powered medication information visualization interface as a smartphone app with the knowledge gained from each component of Aim 1. The interface will be assessed through two usability surveys. A total of 300 patients, aged 18-65 years, with diabetes, cardiovascular diseases, or mental health disorders, will be recruited for the surveys. Data from the surveys will be analyzed through exploratory factor analysis. In Aim 3, in order to test the prototype, there will be a two-arm study design. This aim will include 900 patients, aged 18-65 years, with internet access, without any cognitive impairment, and with at least two medications. Patients will be sequentially randomized. Three surveys will be used to assess the primary outcome of medication information comprehension and the secondary outcome of medication adherence at 12 weeks. Results: Preliminary data collection will be conducted in 2021, and results are expected to be published in 2022. Conclusions: This study will lead the future of AI-based, innovative, digital interface design and aid in improving medication comprehension, which may improve medication adherence. The results from this study will also open up future research opportunities in understanding how patients manage complex medication information and will inform the format and design for innovative, AI-powered digital interfaces for Medication Guides

Improving Team-Based Decision Making Using Data Analytics and Informatics: Protocol for a Collaborative Decision Support Design

Background: According to the September 2015 Institute of Medicine report, Improving Diagnosis in Health Care, each of us is likely to experience one diagnostic error in our lifetime, often with devastating consequences. Traditionally, diagnostic decision making has been the sole responsibility of an individual clinician. However, diagnosis involves an interaction among interprofessional team members with different training, skills, cultures, knowledge, and backgrounds. Moreover, diagnostic error is prevalent in the interruption-prone environment, such as the emergency department, where the loss of information may hinder a correct diagnosis. Objective: The overall purpose of this protocol is to improve team-based diagnostic decision making by focusing on data analytics and informatics tools that improve collective information management. Methods: To achieve this goal, we will identify the factors contributing to failures in team-based diagnostic decision making (aim 1), understand the barriers of using current health information technology tools for team collaboration (aim 2), and develop and evaluate a collaborative decision-making prototype that can improve team-based diagnostic decision making (aim 3). Results: Between 2019 to 2020, we are collecting data for this study. The results are anticipated to be published between 2020 and 2021. Conclusions: The results from this study can shed light on improving diagnostic decision making by incorporating diagnostics rationale from team members. We believe a positive direction to move forward in solving diagnostic errors is by incorporating all team members, and using informatics

Identifying Complexity in Infectious Diseases Inpatient Settings: An Observation Study

Background Understanding complexity in healthcare has the potential to reduce decision and treatment uncertainty. Therefore, identifying both patient and task complexity may offer better task allocation and design recommendation for next-generation health information technology system design. Objective To identify specific complexity-contributing factors in the infectious disease domain and the relationship with the complexity perceived by clinicians. Method We observed and audio recorded clinical rounds of three infectious disease teams. Thirty cases were observed for a period of four consecutive days. Transcripts were coded based on clinical complexity-contributing factors from the clinical complexity model. Ratings of complexity on day 1 for each case were collected. We then used statistical methods to identify complexity-contributing factors in relationship to perceived complexity of clinicians. Results A factor analysis (principal component extraction with varimax rotation) of specific items revealed three factors (eigenvalues \u3e 2.0) explaining 47% of total variance, namely task interaction and goals (10 items, 26%, Cronbach’s Alpha = 0.87), urgency and acuity (6 items, 11%, Cronbach’s Alpha = 0.67), and psychosocial behavior (4 items, 10%, Cronbach’s alpha = 0.55). A linear regression analysis showed no statistically significant association between complexity perceived by the physicians and objective complexity, which was measured from coded transcripts by three clinicians (Multiple R-squared = 0.13, p = 0.61). There were no physician effects on the rating of perceived complexity. Conclusion Task complexity contributes significantly to overall complexity in the infectious diseases domain. The different complexity-contributing factors found in this study can guide health information technology system designers and researchers for intuitive design. Thus, decision support tools can help reduce the specific complexity-contributing factors. Future studies aimed at understanding clinical domain-specific complexity-contributing factors can ultimately improve task allocation and design for intuitive clinical reasoning

SARS-CoV-2 Early Infection Signature Identified Potential Key Infection Mechanisms and Drug Targets

Background The ongoing COVID-19 outbreak has caused devastating mortality and posed a significant threat to public health worldwide. Despite the severity of this illness and 2.3 million worldwide deaths, the disease mechanism is mostly unknown. Previous studies that characterized differential gene expression due to SARS-CoV-2 infection lacked robust validation. Although vaccines are now available, effective treatment options are still out of reach. Results To characterize the transcriptional activity of SARS-CoV-2 infection, a gene signature consisting of 25 genes was generated using a publicly available RNA-Sequencing (RNA-Seq) dataset of cultured cells infected with SARS-CoV-2. The signature estimated infection level accurately in bronchoalveolar lavage fluid (BALF) cells and peripheral blood mononuclear cells (PBMCs) from healthy and infected patients (mean 0.001 vs. 0.958; P \u3c 0.0001). These signature genes were investigated in their ability to distinguish the severity of SARS-CoV-2 infection in a single-cell RNA-Sequencing dataset. TNFAIP3, PPP1R15A, NFKBIA, and IFIT2 had shown bimodal gene expression in various immune cells from severely infected patients compared to healthy or moderate infection cases. Finally, this signature was assessed using the publicly available ConnectivityMap database to identify potential disease mechanisms and drug repurposing candidates. Pharmacological classes of tricyclic antidepressants, SRC-inhibitors, HDAC inhibitors, MEK inhibitors, and drugs such as atorvastatin, ibuprofen, and ketoconazole showed strong negative associations (connectivity score \u3c − 90), highlighting the need for further evaluation of these candidates for their efficacy in treating SARS-CoV-2 infection. Conclusions Thus, using the 25-gene SARS-CoV-2 infection signature, the SARS-CoV-2 infection status was captured in BALF cells, PBMCs and postmortem lung biopsies. In addition, candidate SARS-CoV-2 therapies with known safety profiles were identified. The signature genes could potentially also be used to characterize the COVID-19 disease severity in patients’ expression profiles of BALF cells

Improving Medication Information Presentation Through Interactive Visualization in Mobile Apps: Human Factors Design

Background: Despite the detailed patient package inserts (PPIs) with prescription drugs that communicate crucial information about safety, there is a critical gap between patient understanding and the knowledge presented. As a result, patients may suffer from adverse events. We propose using human factors design methodologies such as hierarchical task analysis (HTA) and interactive visualization to bridge this gap. We hypothesize that an innovative mobile app employing human factors design with an interactive visualization can deliver PPI information aligned with patients’ information processing heuristics. Such an app may help patients gain an improved overall knowledge of medications. Objective: The objective of this study was to explore the feasibility of designing an interactive visualization-based mobile app using an HTA approach through a mobile prototype. Methods: Two pharmacists constructed the HTA for the drug risperidone. Later, the specific requirements of the design were translated using infographics. We transferred the wireframes of the prototype into an interactive user interface. Finally, a usability evaluation of the mobile health app was conducted. Results: A mobile app prototype using HTA and infographics was successfully created. We reiterated the design based on the specific recommendations from the usability evaluations. Conclusions: Using HTA methodology, we successfully created a mobile prototype for delivering PPI on the drug risperidone to patients. The hierarchical goals and subgoals were translated into a mobile prototype