Genetically guided precision medicine clinical decision support tools: a systematic review.

OBJECTIVES: Patient care using genetics presents complex challenges. Clinical decision support (CDS) tools are a potential solution because they provide patient-specific risk assessments and/or recommendations at the point of care. This systematic review evaluated the literature on CDS systems which have been implemented to support genetically guided precision medicine (GPM). MATERIALS AND METHODS: A comprehensive search was conducted in MEDLINE and Embase, encompassing January 1, 2011-March 14, 2023. The review included primary English peer-reviewed research articles studying humans, focused on the use of computers to guide clinical decision-making and delivering genetically guided, patient-specific assessments, and/or recommendations to healthcare providers and/or patients. RESULTS: The search yielded 3832 unique articles. After screening, 41 articles were identified that met the inclusion criteria. Alerts and reminders were the most common form of CDS used. About 27 systems were integrated with the electronic health record; 2 of those used standards-based approaches for genomic data transfer. Three studies used a framework to analyze the implementation strategy. DISCUSSION: Findings include limited use of standards-based approaches for genomic data transfer, system evaluations that do not employ formal frameworks, and inconsistencies in the methodologies used to assess genetic CDS systems and their impact on patient outcomes. CONCLUSION: We recommend that future research on CDS system implementation for genetically GPM should focus on implementing more CDS systems, utilization of standards-based approaches, user-centered design, exploration of alternative forms of CDS interventions, and use of formal frameworks to systematically evaluate genetic CDS systems and their effects on patient care.

Genomics in nephrology: identifying informatics opportunities to improve diagnosis of genetic kidney disorders using a human-centered design approach.

BACKGROUND: Genomic kidney conditions often have a long lag between onset of symptoms and diagnosis. To design a real time genetic diagnosis process that meets the needs of nephrologists, we need to understand the current state, barriers, and facilitators nephrologists and other clinicians who treat kidney conditions experience, and identify areas of opportunity for improvement and innovation. METHODS: Qualitative in-depth interviews were conducted with nephrologists and internists from 7 health systems. Rapid analysis identified themes in the interviews. These were used to develop service blueprints and process maps depicting the current state of genetic diagnosis of kidney disease. RESULTS: Themes from the interviews included the importance of trustworthy resources, guidance on how to order tests, and clarity on what to do with results. Barriers included lack of knowledge, lack of access, and complexity surrounding the case and disease. Facilitators included good user experience, straightforward diagnoses, and support from colleagues. DISCUSSION: The current state of diagnosis of kidney diseases with genetic etiology is suboptimal, with information gaps, complexity of genetic testing processes, and heterogeneity of disease impeding efficiency and leading to poor outcomes. This study highlights opportunities for improvement and innovation to address these barriers and empower nephrologists and other clinicians who treat kidney conditions to access and use real time genetic information.

Using implementation science to develop a familial hypercholesterolemia screening program in primary care: The CARE-FH study.

BACKGROUND: We designed the Collaborative Approach to Reach Everyone with Familial Hypercholesterolemia (CARE-FH) clinical trial to improve FH screening in primary care and facilitate guideline-based care. OBJECTIVE: The goal was to incorporate perspectives from end-users (healthcare system leaders, primary care clinicians, cardiologists, genetic counselors, nurses, and clinic staff) and improve translation of screening guidance into practice. METHODS: We partnered with end-users to sequentially define the current state of FH screening, assess acceptability, feasibility, and appropriateness of implementing an FH screening program, and select clinically actionable strategies at the patient-, clinician-, and system-level to be deployed as a package in the CARE-FH clinical trial. Methods informed by implementation science and human centered design included: contextual inquiries, surveys, and deliberative engagement sessions. RESULTS: Screening for FH occurred rarely in primary care, and then only after a cardiovascular event or sometimes due to a family history of high cholesterol or early heart attack. Surveys suggested FH screening in primary care was acceptable, appropriate, and feasible. Reported and observed barriers to screening include insufficient time at patient encounters to screen, cost and convenience of testing for patients, and knowledge regarding causes of dyslipidemia. Facilitators included clear guidance on screening criteria and new therapies to treat FH. These results led to the development of multilevel strategies that were presented to end-users, modified, and then pilot tested in one primary care clinic. CONCLUSIONS: A refined implementation strategy package for FH screening was created with a goal of improving FH awareness, identification, and initiation of guideline-based care. CLINICAL TRIAL REGISTRATION: https://clinicaltrials.gov/study/NCT05284513?id=NCT05284513&rank=1 Unique Identifier: NCT05284513.

Human-Centered Design Study to Inform Traceback Cascade Genetic Testing Programs at Three Integrated Health Systems.

INTRODUCTION: A traceback genetic testing program for ovarian cancer has the potential to identify individuals with hereditary breast and ovarian cancer and their relatives. Successful implementation depends on understanding and addressing the experiences, barriers, and preferences of the people served. METHODS: We conducted a remote, human-centered design research study of people with ovarian, fallopian tube, or peritoneal cancer (probands) and people with a family history of ovarian cancer (relatives) at three integrated health systems between May and September 2021. Participants completed activities to elicit their preferences about ovarian cancer genetic testing messaging and to design their ideal experience receiving an invitation to participate in genetic testing. Interview data were analyzed using a rapid thematic analysis approach. RESULTS: We interviewed 70 participants and identified five preferred experiences for a traceback program. Participants strongly prefer discussing genetic testing with their doctor but are comfortable discussing with other clinicians. The most highly preferred experience for both probands and relatives was to discuss with a knowledgeable clinician who could answer questions, followed by directed (sent directly to specific people) or passive (shared in a public area) communication. Repeated contact was acceptable for reminders. CONCLUSION: Participants were open to receiving information about traceback genetic testing and recognized its value. Participants preferred discussing genetic testing with a trusted clinician. Directed communication was preferable to passive communication. Other valued information included how genetic tests help their family and the cost of genetic testing. These findings are informing traceback cascade genetic testing programs at all three sites.

Design of a pragmatic clinical trial to improve screening and treatment for opioid use disorder in primary care.

BACKGROUND: Opioid-related deaths continue to rise in the U.S. A shared decision-making (SDM) system to help primary care clinicians (PCCs) identify and treat patients with opioid use disorder (OUD) could help address this crisis. METHODS: In this cluster-randomized trial, primary care clinics in three healthcare systems were randomized to receive or not receive access to an OUD-SDM system. The OUD-SDM system alerts PCCs and patients to elevated risk of OUD and supports OUD screening and treatment. It includes guidance on OUD screening and diagnosis, treatment selection, starting and maintaining patients on buprenorphine for waivered clinicians, and screening for common comorbid conditions. The primary study outcome is, of patients at high risk for OUD, the percentage receiving an OUD diagnosis within 30 days of index visit. Additional outcomes are, of patients at high risk for or with a diagnosis of OUD, (a) the percentage receiving a naloxone prescription, or (b) the percentage receiving a medication for OUD (MOUD) prescription or referral to specialty care within 30 days of an index visit, and (c) total days covered by a MOUD prescription within 90 days of an index visit. RESULTS: The intervention started in April 2021 and continues through December 2023. PCCs and patients in 90 clinics are included; study results are expected in 2024. CONCLUSION: This protocol paper describes the design of a multi-site trial to help PCCs recognize and treat OUD. If effective, this OUD-SDM intervention could improve screening of at-risk patients and rates of OUD treatment for people with OUD.

Impact of telehealth on the current and future practice of lipidology: a scoping review.

Telehealth services have been implemented to deliver care for patients living with many chronic conditions and have expanded greatly during the COVID-19 pandemic. Little is known about the current or future impacts of telehealth on lipid management practices. The PubMed database was searched from inception to June 25, 2021, with the keywords "lipids or cholesterol" and "telehealth," which yielded 376 published articles. Telehealth was defined as a synchronous visit between a patient and clinician that replaced an in-office appointment. Studies that solely used remote monitoring, mobile health technologies, or callbacks of results, were excluded. Articles must have measured lipid values. Review articles and protocol papers were not included. After evaluation, 128 abstracts were included for full text evaluation, with 55 full-text articles eventually included. Of the articles, 29 were randomized clinical trials, 15 were pre-post evaluations, and 11 were other study designs. Telehealth had positive to neutral impacts on lipid management. Reported facilitators include easier implementation of multidisciplinary approaches to care, and utilization of patient-centered programs. Reported barriers to telehealth services include technological barriers, such as various skill levels with technology; systems barriers, such as cost and reimbursement; patient-related barriers, including patient non-adherence; and clinician-related barriers, such as difficulty standardizing care. Clinicians reported improved satisfaction among patients but had mixed feelings regarding their ability to deliver quality care. Telemedicine use to provide care for individuals with lipid conditions has expanded during the COVID-19 pandemic, but more research is needed to determine its potential as a sustainable tool for lipid management.

The potential impact of clinical decision support on nonwaivered primary care clinicians' prescribing of buprenorphine.

Elimination of the X-waiver increased potential buprenorphine prescribers 13-fold, but growth in prescribing will likely be much lower. We explored self-assessments of nonwaivered primary care clinicians (PCCs) for factors affecting their likelihood to prescribe buprenorphine were the X-waiver eliminated (since realized January 2023) and the potential impacts of a clinical decision-support (CDS) tool for opioid use disorder (OUD). Cross-sectional survey data were obtained between January 2021 and March 2022 from 305 nonwaivered PCCs at 3 health systems. Factors explored were patient requests for buprenorphine, PCC access to an OUD-CDS, and PCC confidence and abilities for 5 OUD-care activities. Relationships were described using descriptive statistics and odds ratios. Only 26% of PCCs were more likely to prescribe buprenorphine upon patient request, whereas 63% were more likely to prescribe with the OUD-CDS. PCC confidence and abilities for some OUD-care activities were associated with increased prescribing likelihood from patient requests, but none were associated with the OUD-CDS. The OUD-CDS may increase buprenorphine prescribing for PCCs less likely to prescribe upon patient request. Future research is needed to develop interventions that increase PCC buprenorphine prescribing. Clinical trial registration: ClinicalTrials.gov. Identifier: NCT04198428. Clinical trial name: Clinical Decision Support for Opioid Use Disorders in Medical Settings (Compute 2.0).

Patient Perspectives on Opioid Risk Discussions in Primary Care.

Purpose: Both patients and clinicians have described discussions of potential opioid risks as challenging. This study's goal was to understand patient perspectives on discussing opioid risks with primary care clinicians (PCCs). Methods: Patients identified to be at elevated risk for problems with opioids (ie, opioid use disorder [OUD] diagnosis, taking a medication for OUD, or having ≥3 opioid prescriptions in the last year) were recruited from an integrated, Upper Midwest health system to participate in semi-structured qualitative interviews. Interview questions aimed to better understand patient views on conversations about opioid risks with PCCs and perceptions of OUD screening and treatment in primary care. Interviews were analyzed using an inductive thematic analysis approach. Results: A total of 20 patients participated (mean age: 53.5 years; 65% male). Six themes emerged: 1) archetypes of patient relationships with opioids (long-term opioid use, acute opioid use, OUD in treatment, OUD no treatment) require different approaches in discussing opioid risks; 2) patients may develop their own archetypes about PCCs and opioids; 3) these archetypes may help guide how conversations about opioids are conducted (eg, PCC demeanor, terminology); 4) most patients believe that primary care is an appropriate setting for opioid risk discussions; 5) patients may have limited awareness of the availability and value of overdose rescue medications; and 6) handouts are more acceptable if perceived to come from the PCC's assessment instead of a computer. Conclusions: Results suggest that patients generally perceive discussing opioid risks with PCCs acceptable. PCCs should tailor opioid risk conversations to patients' specific situations and needs.

Collaborative Approach to Reach Everyone with Familial Hypercholesterolemia: CARE-FH Protocol.

The Collaborative Approach to Reach Everyone with Familial Hypercholesterolemia (CARE-FH) study aims to improve diagnostic evaluation rates for FH at Geisinger, an integrated health delivery system. This clinical trial relies upon implementation science to transition the initial evaluation for FH into primary care, attempting to identify individuals prior to the onset of atherosclerotic cardiovascular disease events. The protocol for the CARE-FH study of this paper is available online. The first phase of the project focuses on trial design, including the development of implementation strategies to deploy evidence-based guidelines. The second phase will study the intervention, rolled out regionally to internal medicine, community medicine, and pediatric care clinicians using a stepped-wedge design, and analyzing data on diagnostic evaluation rates, and implementation, service, and health outcomes.

Evaluation of an educational strategy to improve medication reconciliation in ambulatory care.

BACKGROUND: Improper medication reconciliation can result in inaccurate medication lists. When medication lists are inaccurate, it can result in drug-drug interactions, dosing errors, and medication duplication. Interventions targeting medication reconciliation have had varying levels of success. OBJECTIVE: This study aimed to describe the medication reconciliation educational program, its implementation in a health care system, pharmacist and clinic personnel perception of the program, and its impact on clinic personnel knowledge and practice. METHODS: Guided by the Conceptual Model of Implementation Research, a partially mixed sequential dominant status evaluation of a pharmacist-led educational program on evidence-based practices for medication reconciliation implemented into all primary care clinic sites by examining implementation outcomes was conducted. The implementation outcomes measured include penetration, fidelity, acceptability, appropriateness, feasibility, and adoption. Data were collected through program data and direct observations, pre- and postsurveys, and semistructured interviews of pharmacists and clinic personnel. RESULTS: Of 46 primary care sites, 37 primary care sites (80%) implemented the pharmacist-delivered medication reconciliation education from April to June 2021 with representation from each of Geisinger's regions. Ten clinic sites (27%) completed the medication reconciliation educational program as originally designed, with the remainder adapting the program. A total of 296 clinic personnel completed the presurvey, and 178 completed the postsurvey. There were no differences in baseline characteristics between clinic personnel who completed the pre- versus postsurvey. All clinic personnel interviewed felt satisfied with the educational program and felt it was appropriate because it directly affected their job. Clinic personnel felt the educational program was acceptable and appropriate; two major concerns were discussed: a lack of patient knowledge about their medications and a lack of time to complete the medication reconciliation. The adherence rate to the elements of the medication reconciliation that were covered in the education program ranged from 0% to 95% in the 55 observations conducted. CONCLUSION: An educational program for medication reconciliation was found to be acceptable and appropriate but was often adapted to fit site-specific needs. Additional barriers affected adoption of best practices and should be addressed in future studies.

Feasibility and Assessment of a Cascade Traceback Screening Program (FACTS): Protocol for a Multisite Study to Implement and Assess an Ovarian Cancer Traceback Cascade Testing Program.

Ovarian cancer (OVCA) patients may carry genes conferring cancer risk to biological family; however, fewer than one-quarter of patients receive genetic testing. "Traceback" cascade testing -outreach to potential probands and relatives-is a possible solution. This paper outlines a funded study (U01 CA240747-01A1) seeking to determine a Traceback program's feasibility, acceptability, effectiveness, and costs. This is a multisite prospective observational feasibility study across three integrated health systems. Informed by the Conceptual Model for Implementation Research, we will outline, implement, and evaluate the outcomes of an OVCA Traceback program. We will use standard legal research methodology to review genetic privacy statutes; engage key stakeholders in qualitative interviews to design communication strategies; employ descriptive statistics and regression analyses to evaluate the site differences in genetic testing and the OVCA Traceback testing; and assess program outcomes at the proband, family member, provider, system, and population levels. This study aims to determine a Traceback program's feasibility and acceptability in a real-world context. It will account for the myriad factors affecting implementation, including legal issues, organizational- and individual-level barriers and facilitators, communication issues, and program costs. Project results will inform how health care providers and systems can develop effective, practical, and sustainable Traceback programs.

A Minimal Information Model for Potential Drug-Drug Interactions.

Despite the significant health impacts of adverse events associated with drug-drug interactions, no standard models exist for managing and sharing evidence describing potential interactions between medications. Minimal information models have been used in other communities to establish community consensus around simple models capable of communicating useful information. This paper reports on a new minimal information model for describing potential drug-drug interactions. A task force of the Semantic Web in Health Care and Life Sciences Community Group of the World-Wide Web consortium engaged informaticians and drug-drug interaction experts in in-depth examination of recent literature and specific potential interactions. A consensus set of information items was identified, along with example descriptions of selected potential drug-drug interactions (PDDIs). User profiles and use cases were developed to demonstrate the applicability of the model. Ten core information items were identified: drugs involved, clinical consequences, seriousness, operational classification statement, recommended action, mechanism of interaction, contextual information/modifying factors, evidence about a suspected drug-drug interaction, frequency of exposure, and frequency of harm to exposed persons. Eight best practice recommendations suggest how PDDI knowledge artifact creators can best use the 10 information items when synthesizing drug interaction evidence into artifacts intended to aid clinicians. This model has been included in a proposed implementation guide developed by the HL7 Clinical Decision Support Workgroup and in PDDIs published in the CDS Connect repository. The complete description of the model can be found at https://w3id.org/hclscg/pddi.

Design and evaluation of a pharmacogenomics information resource for pharmacists.

OBJECTIVE: To develop and evaluate a pharmacogenomics information resource for pharmacists. MATERIALS AND METHODS: We built a pharmacogenomics information resource presenting Food and Drug Administration (FDA) drug product labelling information, refined it based on feedback from pharmacists, and conducted a comparative usability evaluation, measuring task completion time, task correctness and perceived usability. Tasks involved hypothetical clinical situations requiring interpretation of pharmacogenomics information to determine optimal prescribing for specific patients. RESULTS: Pharmacists were better able to perform certain tasks using the redesigned resource relative to the Pharmacogenomic Knowledgebase (PharmGKB) and the FDA Table of Pharmacogenomic Biomarkers in Drug Labeling. On average, participants completed tasks in 107.5 s using our resource, compared to 188.9 s using PharmGKB and 240.2 s using the FDA table. Using the System Usability Scale, participants rated our resource 79.62 on average, compared to 53.27 for PharmGKB and 50.77 for the FDA table. Participants found the correct answers for 100% of tasks using our resource, compared to 76.9% using PharmGKB and 69.2% using the FDA table. DISCUSSION: We present structured, clinically relevant pharmacogenomic FDA drug product label information with visualizations to help explain the relationships between gene variants, drugs, and phenotypes. The results from our evaluation suggest that user-centered interfaces for pharmacogenomics information can increase ease of access and comprehension. CONCLUSION: A clinician-focused pharmacogenomics information resource can answer pharmacogenomics-related medication questions faster, more correctly, and more easily than widely used alternatives, as perceived by pharmacists.

Information needs for making clinical recommendations about potential drug-drug interactions: a synthesis of literature review and interviews.

BACKGROUND: Drug information compendia and drug-drug interaction information databases are critical resources for clinicians and pharmacists working to avoid adverse events due to exposure to potential drug-drug interactions (PDDIs). Our goal is to develop information models, annotated data, and search tools that will facilitate the interpretation of PDDI information. To better understand the information needs and work practices of specialists who search and synthesize PDDI evidence for drug information resources, we conducted an inquiry that combined a thematic analysis of published literature with unstructured interviews. METHODS: Starting from an initial set of relevant articles, we developed search terms and conducted a literature search. Two reviewers conducted a thematic analysis of included articles. Unstructured interviews with drug information experts were conducted and similarly coded. Information needs, work processes, and indicators of potential strengths and weaknesses of information systems were identified. RESULTS: Review of 92 papers and 10 interviews identified 56 categories of information needs related to the interpretation of PDDI information including drug and interaction information; study design; evidence including clinical details, quality and content of reports, and consequences; and potential recommendations. We also identified strengths/weaknesses of PDDI information systems. CONCLUSIONS: We identified the kinds of information that might be most effective for summarizing PDDIs. The drug information experts we interviewed had differing goals, suggesting a need for detailed information models and flexible presentations. Several information needs not discussed in previous work were identified, including temporal overlaps in drug administration, biological plausibility of interactions, and assessment of the quality and content of reports. Richly structured depictions of PDDI information may help drug information experts more effectively interpret data and develop recommendations. Effective information models and system designs will be needed to maximize the utility of this information.

Examining perceptions of the usefulness and usability of a mobile-based system for pharmacogenomics clinical decision support: a mixed methods study.

Background. Pharmacogenomic testing has the potential to improve the safety and efficacy of pharmacotherapy, but clinical application of pharmacogenetic knowledge has remained uncommon. Clinical Decision Support (CDS) systems could help overcome some of the barriers to clinical implementation. The aim of this study was to evaluate the perception and usability of a web- and mobile-enabled CDS system for pharmacogenetics-guided drug therapy-the Medication Safety Code (MSC) system-among potential users (i.e., physicians and pharmacists). Furthermore, this study sought to collect data on the practicability and comprehensibility of potential layouts of a proposed personalized pocket card that is intended to not only contain the machine-readable data for use with the MSC system but also human-readable data on the patient's pharmacogenomic profile. Methods. We deployed an emergent mixed methods design encompassing (1) qualitative interviews with pharmacists and pharmacy students, (2) a survey among pharmacogenomics experts that included both qualitative and quantitative elements and (3) a quantitative survey among physicians and pharmacists. The interviews followed a semi-structured guide including a hypothetical patient scenario that had to be solved by using the MSC system. The survey among pharmacogenomics experts focused on what information should be printed on the card and how this information should be arranged. Furthermore, the MSC system was evaluated based on two hypothetical patient scenarios and four follow-up questions on the perceived usability. The second survey assessed physicians' and pharmacists' attitude towards the MSC system. Results. In total, 101 physicians, pharmacists and PGx experts coming from various relevant fields evaluated the MSC system. Overall, the reaction to the MSC system was positive across all investigated parameters and among all user groups. The majority of participants were able to solve the patient scenarios based on the recommendations displayed on the MSC interface. A frequent request among participants was to provide specific listings of alternative drugs and concrete dosage instructions. Negligence of other patient-specific factors for choosing the right treatment such as renal function and co-medication was a common concern related to the MSC system, while data privacy and cost-benefit considerations emerged as the participants' major concerns regarding pharmacogenetic testing in general. The results of the card layout evaluation indicate that a gene-centered and tabulated presentation of the patient's pharmacogenomic profile is helpful and well-accepted. Conclusions. We found that the MSC system was well-received among the physicians and pharmacists included in this study. A personalized pocket card that lists a patient's metabolizer status along with critically affected drugs can alert physicians and pharmacists to the availability of essential therapy modifications.

How can we improve Science, Technology, Engineering, and Math education to encourage careers in Biomedical and Pathology Informatics?

The Computer Science, Biology, and Biomedical Informatics (CoSBBI) program was initiated in 2011 to expose the critical role of informatics in biomedicine to talented high school students.[1] By involving them in Science, Technology, Engineering, and Math (STEM) training at the high school level and providing mentorship and research opportunities throughout the formative years of their education, CoSBBI creates a research infrastructure designed to develop young informaticians. Our central premise is that the trajectory necessary to be an expert in the emerging fields of biomedical informatics and pathology informatics requires accelerated learning at an early age.In our 4(th) year of CoSBBI as a part of the University of Pittsburgh Cancer Institute (UPCI) Academy (http://www.upci.upmc.edu/summeracademy/), and our 2nd year of CoSBBI as an independent informatics-based academy, we enhanced our classroom curriculum, added hands-on computer science instruction, and expanded research projects to include clinical informatics. We also conducted a qualitative evaluation of the program to identify areas that need improvement in order to achieve our goal of creating a pipeline of exceptionally well-trained applicants for both the disciplines of pathology informatics and biomedical informatics in the era of big data and personalized medicine.

Bringing clinical pharmacogenomics information to pharmacists: A qualitative study of information needs and resource requirements.

INTRODUCTION: As key experts in supporting medication-decision making, pharmacists are well-positioned to support the incorporation of pharmacogenomics into clinical care. However, there has been little study to date of pharmacists' information needs regarding pharmacogenomics. Understanding those needs is critical to design information resources that help pharmacists effectively apply pharmacogenomics information. OBJECTIVES: We sought to understand the pharmacogenomics information needs and resource requirements of pharmacists. METHODS: We conducted qualitative inquiries with 14 pharmacists representing 6 clinical environments, and used the results of those inquiries to develop a model of pharmacists' pharmacogenomics information needs and resource requirements. RESULTS: The inquiries identified 36 pharmacogenomics-specific and pharmacogenomics-related information needs that fit into four information needs themes: background information, patient information, medication information, and guidance information. The results of the inquiries informed a model of pharmacists' pharmacogenomics resource requirements, with 3 themes: structure of the resource, perceptions of the resource, and perceptions of the information. CONCLUSION: Responses suggest that pharmacists anticipate an imminently growing role for pharmacogenomics in their practice. Participants value information from trust-worthy resources like FDA product labels, but struggle to find relevant information quickly in labels. Specific information needs include clinically relevant guidance about genotypes, phenotypes, and how to care for their patients with known genotypes. Information resources supporting the goal of incorporating complicated genetic information into medication decision-making goals should be well-designed and trustworthy.

Assessing the impact of cognitive impairment on the usability of an electronic medication delivery unit in an assisted living population.

PURPOSE: To examine the relationship between cognitive status and the usability of an integrated medication delivery unit (MDU) in older adults who reside in an Assisted Living Facility (ALF). METHODS: Subjects were recruited from a single ALF in Pittsburgh, PA. Usability testing sessions required subjects to execute tasks essential to using EMMA(®) (Electronic Medication Management Assistant), a Class II Federal Drug Administration (FDA) approved integrated MDU. Video coding allowed for quantification of usability errors observed during the testing sessions. Each subject's cognitive status was assessed using the Mini Mental State Exam (MMSE(®)) with scores <24 indicating cognitive impairment. Functional status was assessed using the Lawton Instrumental Activities of Daily Living (IADL) questionnaire, and a global assessment of subjective usability was assessed by completing the System Usability Scale (SUS). Non-parametric statistics and correlation analysis were used to determine whether significant differences existed between cognitively impaired and non-impaired subjects. RESULTS: Nineteen subjects were recruited and completed the protocol. The subject pool was primarily white, female, 80+ and in possession of above average education. There was a significant relationship between MMSE(®) scores and the percentage of task success (z=-2.03, p=0.04). Subjects with MMSE(®) scores of 24+ (no cognitive impairment) successfully completed an average of 69.0% of tasks vs. the 34.7% performance for those in the cognitively impaired group (<24). Six of the unimpaired group also succeeded at meeting the 85% (6 out of 7 correct) threshold. No subject with cognitive impairments (<24 MMSE(®)) completed more than 5/7 (71.4%) of their tasks. Two of the impaired subjects failed all of the tasks. Three of the MMSE(®)'s subsections (Date, Location and Spell 'world' backwards) were found to be significantly related (p<0.05) to the percentage of task success. Tasks success rates were related with IADL scores (z=-3.826, p<0.0001), and SUS scores (r=0.467, p=0.0429). CONCLUSIONS: Medication delivery units like EMMA(®) have the potential to improve medication management by combining reminder systems with telemedical monitoring and control capabilities. However, subjects judged to be "cognitively impaired" (<24 MMSE(®)) scored a significantly smaller percentage of task success than the "unimpaired" (>=24), suggesting that cognitive screening of patients prior to the use of EMMA(®) may be advisable. Further studies are needed to test the use of EMMA(®) amongst ALF residents without cognitive impairment to see if this technology can improve medication adherence.

Toward semantic modeling of pharmacogenomic knowledge for clinical and translational decision support.

The purpose of this paper is to describe pilot work on a semantic model of the pharmacogenomics information found in drug product labels. The model's development is driven by a series of use cases that we have developed to demonstrate how structured pharmacogenomics information could be more effectively used to support clinical and translational efforts. Using an iterative process, the semantic model was field-tested by five pharmacists, who used it to manually annotate a subset of the sections that the Food and Drug Administration's Table of Pharmacogenomic Biomarkers in Drug Labels cites as containing pharmacogenomics information. The five pharmacists identified a total of 213 pharmacogenomics statements in 29 sections. The model showed the potential to make the unstructured pharmacogenomic information currently written in product labeling more accessible and actionable through structured annotations of pharmacogenomics effects and clinical recommendations.