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Background Alcohol and drug use are leading causes of morbidity and mortality that frequently go unidentified in medical settings. As part of a multi-phase study to implement electronic health record-integrated substance use screening in primary care clinics, we interviewed key clinical stakeholders to identify current substance use screening practices, barriers to screening, and recommendations for its implementation. Methods Focus groups and individual interviews were conducted with 67 stakeholders, including patients, primary care providers (faculty and resident physicians), nurses, and medical assistants, in two urban academic health systems. Themes were identified using an inductive approach, revised through an iterative process, and mapped to the Knowledge to Action (KTA) framework, which guides the implementation of new clinical practices (Graham et al. in J Contin Educ Health Prof 26(1):13–24, 2006 ). Results Factors affecting implementation based on KTA elements were identified from participant narratives. Identifying the problem: Participants consistently agreed that having knowledge of a patient’s substance use is important because of its impacts on health and medical care, that substance use is not properly identified in medical settings currently, and that universal screening is the best approach. Assessing barriers: Patients expressed concerns about consequences of disclosing substance use, confidentiality, and the individual’s own reluctance to acknowledge a substance use problem. Barriers identified by providers included individual-level factors such as lack of clinical knowledge and training, as well as systems-level factors including time pressure, resources, lack of space, and difficulty accessing addiction treatment. Adapting to the local context: Most patients and providers stated that the primary care provider should play a key role in substance use screening and interventions. Opinions diverged regarding the optimal approach to delivering screening, although most preferred a patient self-administered approach. Many providers reported that taking effective action once unhealthy substance use is identified is crucial. Conclusions Participants expressed support for substance use screening as a valuable part of medical care, and identified individual-level as well as systems-level barriers to its implementation. These findings suggest that screening programs should clearly communicate the goals of screening to patients and proactively counteract stigma, address staff concerns regarding time and workflow, and provide education as well as treatment resources to primary care providers.

The mapping of the human genome has enabled new exploration of how genetic variations contribute to health and disease. This research has been very successful not only in shedding light on how genetic variants influence susceptibility to common, chronic diseases but also in playing an instrumental role in the discovery of new biologic pathways and drug targets. Despite the growing body of literature of the value of pharmacogenomic variants to drug efficacy and safety and disease variants for risk, significant challenges remain in translating this information into clinical practice at the point of care, let alone integrating it into electronic health records (EHRs).

The development and availability of genomic applications for use in clinical care is accelerating rapidly. the routine use of genomic information, however, is beyond most health-care providers' formal training, and the challenges of understanding and interpreting genomic data are compounded by the demands of clinical practice. nearly all physicians, for...

The articles in this special issue take advantage of the research and experience of the Electronic Medical Records and Genomics (eMERGE) Network and are designed to provide operational and academic leaders with a \"getting started\" guide for integrating genomic information into the electronic health record (EHR). As noted in the article by Gottesman et al., the eMERGE network has been actively researching issues that shed light on the integration of genomic information into the EHR. However, as the authors in this special issue have indicated, many questions and challenges remain. We have completed mapping of terra incognita and have now arrived at the shores of the undiscovered country.

Screening for unhealthy alcohol and drug use is recommended in primary care, and effective implementation requires understanding patients' perspectives. Failure to identify and address potential differences in attitudes toward screening across demographic groups may result in care gaps, but research examining this is limited. We surveyed 977 adult patients in 9 primary care clinics that participated in a screening implementation study. The survey collected demographics and attitudes toward screening/discussion of alcohol/drug use in primary care. We described responses overall and compared across age, gender, race, and ethnicity using Chi-square/Fisher's exact tests. Mean age was 51.1 years, and the sample was 39% male, 61% female, 72% White non-Hispanic, 11% Hispanic, 10% Black non-Hispanic, and 6% other/unknown race non-Hispanic. Most participants across all demographic groups reported supportive attitudes. Comfort reporting drug use was lower among young, male, Black non-Hispanic, and Hispanic patients, and comfort with screening overall was lower among middle-aged, Black non-Hispanic, and Hispanic patients. Results suggest that screening/discussion of alcohol/drug use in primary care is generally highly acceptable to patients across demographic groups. Strategies are needed to increase comfort and alleviate concerns about how medical information will be used, particularly among middle-aged, Black, and Hispanic patients.

Background Clinical prediction rules (CPRs) represent well-validated but underutilized evidence-based medicine tools at the point-of-care. To date, an inability to integrate these rules into an electronic health record (EHR) has been a major limitation and we are not aware of a study demonstrating the use of CPR's in an ambulatory EHR setting. The integrated clinical prediction rule (iCPR) trial integrates two CPR's in an EHR and assesses both the usability and the effect on evidence-based practice in the primary care setting. Methods A multi-disciplinary design team was assembled to develop a prototype iCPR for validated streptococcal pharyngitis and bacterial pneumonia CPRs. The iCPR tool was built as an active Clinical Decision Support (CDS) tool that can be triggered by user action during typical workflow. Using the EHR CDS toolkit, the iCPR risk score calculator was linked to tailored ordered sets, documentation, and patient instructions. The team subsequently conducted two levels of 'real world' usability testing with eight providers per group. Usability data were used to refine and create a production tool. Participating primary care providers (n = 149) were randomized and intervention providers were trained in the use of the new iCPR tool. Rates of iCPR tool triggering in the intervention and control (simulated) groups are monitored and subsequent use of the various components of the iCPR tool among intervention encounters is also tracked. The primary outcome is the difference in antibiotic prescribing rates (strep and pneumonia iCPR's encounters) and chest x-rays (pneumonia iCPR only) between intervention and control providers. Discussion Using iterative usability testing and development paired with provider training, the iCPR CDS tool leverages user-centered design principles to overcome pervasive underutilization of EBM and support evidence-based practice at the point-of-care. The ongoing trial will determine if this collaborative process will lead to higher rates of utilization and EBM guided use of antibiotics and chest x-ray's in primary care. Trial Registration ClinicalTrials.gov Identifier NCT01386047

This study assessed physician attitudes toward adopting genome-guided prescribing through clinical decision support (CDS), prior to enlisting in the Clinical Implementation of Personalized Medicine through Electronic Health Records and Genomics pilot pharmacogenomics project (CLIPMERGE PGx). We developed a survey instrument that includes the Evidence Based Practice Attitude Scale, adapted to measure attitudes toward adopting genome-informed interventions (EBPAS-GII). The survey also includes items to measure physicians’ characteristics (awareness, experience, and perceived usefulness), attitudes about personal genome testing (PGT) services, and comfort using technology. We surveyed 101 General Internal Medicine physicians from the Icahn School of Medicine at Mount Sinai (ISMMS). The majority were residency program trainees (~88%). Prior to enlisting into CLIPMERGE PGx, most physicians were aware of and had used decision support aids. Few physicians, however, were aware of and had used genome-guided prescribing. The majority of physicians viewed decision support aids and genotype data as being useful for making prescribing decisions. Most physicians had not heard of, but were willing to use, PGT services and felt comfortable interpreting PGT results. Most physicians were comfortable with technology. Physicians who perceived genotype data to be useful in making prescribing decisions, had more positive attitudes toward adopting genome-guided prescribing through CDS. Our findings suggest that internal medicine physicians have a deficit in their familiarity and comfort interpreting and using genomic information. This has reinforced the importance of gathering feedback and guidance from our enrolled physicians when designing genome-guided CDS and the importance of prioritizing genomic medicine education at our institutions.

(1) Background: Clinical decision support (CDS) is a vitally important adjunct to the implementation of pharmacogenomic-guided prescribing in clinical practice. A novel CDS was sought for the APOL1, NAT2, and YEATS4 genes to guide optimal selection of antihypertensive medications among the African American population cared for at multiple participating institutions in a clinical trial. (2) Methods: The CDS committee, made up of clinical content and CDS experts, developed a framework and contributed to the creation of the CDS using the following guiding principles: 1. medical algorithm consensus; 2. actionability; 3. context-sensitive triggers; 4. workflow integration; 5. feasibility; 6. interpretability; 7. portability; and 8. discrete reporting of lab results. (3) Results: Utilizing the principle of discrete patient laboratory and vital information, a novel CDS for APOL1, NAT2, and YEATS4 was created for use in a multi-institutional trial based on a medical algorithm consensus. The alerts are actionable and easily interpretable, clearly displaying the purpose and recommendations with pertinent laboratory results, vitals and links to ordersets with suggested antihypertensive dosages. Alerts were either triggered immediately once a provider starts to order relevant antihypertensive agents or strategically placed in workflow-appropriate general CDS sections in the electronic health record (EHR). Detailed implementation instructions were shared across institutions to achieve maximum portability. (4) Conclusions: Using sound principles, the created genetic algorithms were applied across multiple institutions. The framework outlined in this study should apply to other disease-gene and pharmacogenomic projects employing CDS.

The Electronic Medical Records and Genomics Network is a National Human Genome Research Institute–funded consortium engaged in the development of methods and best practices for using the electronic medical record as a tool for genomic research. Now in its sixth year and second funding cycle, and comprising nine research groups and a coordinating center, the network has played a major role in validating the concept that clinical data derived from electronic medical records can be used successfully for genomic research. Current work is advancing knowledge in multiple disciplines at the intersection of genomics and health-care informatics, particularly for electronic phenotyping, genome-wide association studies, genomic medicine implementation, and the ethical and regulatory issues associated with genomics research and returning results to study participants. Here, we describe the evolution, accomplishments, opportunities, and challenges of the network from its inception as a five-group consortium focused on genotype–phenotype associations for genomic discovery to its current form as a nine-group consortium pivoting toward the implementation of genomic medicine. Genet Med15 10, 761–771.

BACKGROUND:The Centers for Disease Control and Prevention (CDC) recommends one-time hepatitis C virus (HCV) antibody testing for “Birth Cohort” adults born during 1945–1965. OBJECTIVE:To examine the impact of an electronic health record (EHR)-embedded best practice alert (BPA) for HCV testing among Birth Cohort adults. DESIGN:Cluster-randomized trial was conducted from April 29, 2013 to March 29, 2014. SUBJECTS AND SETTING:Ten community and hospital-based primary care practices. Participants were attending physicians and medical residents during 25,620 study-eligible visits. INTERVENTION:Physicians in all practices received a brief introduction to the CDC testing recommendations. At visits for eligible patients at intervention sites, physicians received a BPA through the EHR to order HCV testing or medical assistants were prompted to post a testing order for the physician. Physicians in control sites did not receive the BPA. MAIN OUTCOMES:HCV testing; the incidence of HCV antibody positive tests was a secondary outcome. RESULTS:Testing rates were greater among Birth Cohort patients in intervention sites (20.2% vs. 1.8%, P<0.0001) and the odds of testing were greater in intervention sites after controlling for imbalances of patient and visit characteristics between comparison groups [odds ratio (OR), 9.0; 95% confidence interval, 7.6–10.7). The adjusted OR of identifying HCV antibody positive patients was also greater in intervention sites (OR, 2.1; 95% confidence interval, 1.3–11.2). CONCLUSIONS:An EHR-embedded BPA markedly increased HCV testing among Birth Cohort patients, but the majority of eligible patients did not receive testing indicating a need for more effective methods to promote uptake.