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Pharmacogenetic implementation programs are increasingly feasible due to the availability of clinical guidelines for implementation research. The utilization of these resources has been reported with selected drug-gene pairs; however, little is known about how prescribers respond to pharmacogenetic recommendations for statin therapy. We prospectively assessed prescriber interaction with point-of-care clinical decision support (CDS) to guide simvastatin therapy for a diverse cohort of primary care patients enrolled in a clinical pharmacogenetics program. Of the 1,639 preemptively genotyped patients, 298 (18.2%) had an intermediate function (IF) OATP1B1 phenotype and 25 (1.53%) had a poor function (PF) phenotype, predicted by a common single nucleotide variant in the SLCO1B1 gene (c.521TC; rs4149056). Clinicians were presented with CDS when simvastatin was prescribed for patients with IF or PF through the electronic health record. Importantly, 64.2% of the CDS deployed at the point-of-care was accepted by the prescribers and resulted in prescription changes. Statin intensity was found to significantly influence prescriber adoption of the pharmacogenetic-guided CDS, whereas patient gender or race, prescriber type, or pharmacogenetic training status did not significantly influence adoption. This study demonstrates that primary care providers readily adopt pharmacogenetic information to guide statin therapy for the majority of patients with preemptive genotype data.

This quality improvement study compares commonly used screening methods for alcohol and drug use among adult patients at primary care clinics to examine their association with implementation outcomes and to evaluate the best approach for implementing electronic health record–integrated screening., Key Points Question How are commonly used screening methods for alcohol and drug use associated with implementation outcomes among adult patients in primary care clinics, and what is the best approach for implementing electronic health record–integrated screening? Findings In this quality improvement study implementing systematic screening for alcohol and drug use among 93 114 patients in 6 primary care clinics, 72% of patients completed screening. Screening at any visit (in comparison with screening at annual examinations only) was associated with higher screening rates for alcohol and drug use, and self-administered screening was associated with greater detection of moderate- to high-risk alcohol use compared with staff-administered screening. Meaning These findings suggest that, to maximize the adoption of substance use screening during primary care visits, clinics can conduct screening at any visit and use self-administered screening tools to increase the detection of unhealthy alcohol use among adult patients., Importance Guidelines recommend that adult patients receive screening for alcohol and drug use during primary care visits, but the adoption of screening in routine practice remains low. Clinics frequently struggle to choose a screening approach that is best suited to their resources, workflows, and patient populations. Objective To evaluate how to best implement electronic health record (EHR)–integrated screening for substance use by comparing commonly used screening methods and examining their association with implementation outcomes. Design, Setting, and Participants This article presents the outcomes of phases 3 and 4 of a 4-phase quality improvement, implementation feasibility study in which researchers worked with stakeholders at 6 primary care clinics in 2 large urban academic health care systems to define and implement their optimal screening approach. Site A was located in New York City and comprised 2 clinics, and site B was located in Boston, Massachusetts, and comprised 4 clinics. Clinics initiated screening between January 2017 and October 2018, and 93 114 patients were eligible for screening for alcohol and drug use. Data used in the analysis were collected between January 2017 and October 2019, and analysis was performed from July 13, 2018, to March 23, 2021. Interventions Clinics integrated validated screening questions and a brief counseling script into the EHR, with implementation supported by the use of clinical champions (ie, clinicians who advocate for change, motivate others, and use their expertise to facilitate the adoption of an intervention) and the training of clinic staff. Clinics varied in their screening approaches, including the type of visit targeted for screening (any visit vs annual examinations only), the mode of administration (staff-administered vs self-administered by the patient), and the extent to which they used practice facilitation and EHR usability testing. Main Outcomes and Measures Data from the EHRs were extracted quarterly for 12 months to measure implementation outcomes. The primary outcome was screening rate for alcohol and drug use. Secondary outcomes were the prevalence of unhealthy alcohol and drug use detected via screening, and clinician adoption of a brief counseling script. Results Patients of the 6 clinics had a mean (SD) age ranging from 48.9 (17.3) years at clinic B2 to 59.1 (16.7) years at clinic B3, were predominantly female (52.4% at clinic A1 to 64.6% at clinic A2), and were English speaking. Racial diversity varied by location. Of the 93,114 patients with primary care visits, 71.8% received screening for alcohol use, and 70.5% received screening for drug use. Screening at any visit (implemented at site A) in comparison with screening at annual examinations only (implemented at site B) was associated with higher screening rates for alcohol use (90.3%-94.7% vs 24.2%-72.0%, respectively) and drug use (89.6%-93.9% vs 24.6%-69.8%). The 5 clinics that used a self-administered screening approach had a higher detection rate for moderate- to high-risk alcohol use (14.7%-36.6%) compared with the 1 clinic that used a staff-administered screening approach (1.6%). The detection of moderate- to high-risk drug use was low across all clinics (0.5%-1.0%). Clinics with more robust practice facilitation and EHR usability testing had somewhat greater adoption of the counseling script for patients with moderate-high risk alcohol or drug use (1.4%-12.5% vs 0.1%-1.1%). Conclusions and Relevance In this quality improvement study, EHR-integrated screening was feasible to implement in all clinics and unhealthy alcohol use was detected more frequently when self-administered screening was used at any primary care visit. The detection of drug use was low at all clinics, as was clinician adoption of counseling. These findings can be used to inform the decision-making of health care systems that are seeking to implement screening for substance use. Trial Registration ClinicalTrials.gov Identifier: NCT02963948

For almost 50 years, the Icahn School of Medicine at Mount Sinai has continually invested in genetics and genomics, facilitating a healthy ecosystem that provides widespread support for the ongoing programs in translational pharmacogenomics. These programs can be broadly cataloged into discovery, education, clinical implementation and testing, which are collaboratively accomplished by multiple departments, institutes, laboratories, companies and colleagues. Focus areas have included drug response association studies and allele discovery, multiethnic pharmacogenomics, personalized genotyping and survey-based education programs, pre-emptive clinical testing implementation and novel assay development. This overview summarizes the current state of translational pharmacogenomics at Mount Sinai, including a future outlook on the forthcoming expansions in overall support, research and clinical programs, genomic technology infrastructure and the participating faculty.

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. Electronic supplementary material The online version of this article (10.1186/s13722-018-0110-8) contains supplementary material, which is available to authorized users.

Implementation of pharmacogenetic-guided warfarin dosing has been hindered by inconsistent results from reported clinical trials and a lack of available algorithms that include alleles prevalent in non-white populations. However, current evidence indicates that algorithm-guided dosing is more accurate than empirical dosing. To facilitate multiethnic algorithm-guided warfarin dosing using preemptive genetic testing, we developed a strategy that accounts for the complexity of race and leverages electronic health records for algorithm variables and deploying point-of-care dose recommendations.

As patients live longer with functioning allografts, the prevalence of solid organ transplant recipients will continue to increase, thus making it likely that many primary care providers will treat patients with an organ transplant. As the population of living transplant recipients grows, primary care providers will increasingly play a key role in the long-term management of transplant recipients. The introductory case presentation and discussion aim to educate the primary care provider about common medical problems experienced by transplant recipients, to provide some fundamental knowledge of immunosuppressive medications and their drug interactions, and to highlight key issues when comanagement with the transplant sub-subspecialist is indicated. Though the chapter focuses on kidney transplantation, the issues can be related to liver and cardiac transplant recipients with some caveats.

This case, which evolves over three sessions, describes the course of a pregnant woman from the Dominican Republic who presents to the emergency department complaining of abdominal pain. Developed by faculty from multiple clinical departments, this case allows learners to integrate and apply collected data to problem-solve. It also helps students develop the skills necessary for the interpretation and utilization of relevant historical, physical examination, and laboratory information in a patient who is acutely ill. Topics addressed in the exercise include symptom presentation/evolution, generation of differential diagnosis, diagnostic testing, and patient management. The exercise reiterates the clinical relevance of basic science topics, including embryology, anatomy, pharmacology, physiology, and pathophysiology. It also allows students to address culture, intimate partner violence, health beliefs, population medicine, and evidenced-based practice. The problem-based format fosters self-directed learning, reflection, and collaborative practice. Student evaluations have consistently indicated that the exercise has helped them to think about a clinical case in a multidisciplinary fashion, across specialty lines, and from a cultural perspective. Since first implementing this case in 2003, we have recognized the benefit of having fourth-year students cofacilitate the exercise. We have also involved the medical library staff in the implementation of this exercise to provide students with an additional resource to help them with more challenging literature searches. This problem-based learning exercise allows third-year medical students to consolidate educational experiences from across their clerkships and encourages multidisciplinary thinking in their clinical interactions. The strength of the case is that students are required to think outside the context of a specific clerkship and integrate symptoms across organ systems.