scholarly journals Pharmacogenomic alerts: developing guidance for use by healthcare professionals

Author(s):  
John-Paul Carter ◽  
James Critchlow ◽  
Sarah Jackson ◽  
Sonali Sanghvi ◽  
Helene Feger ◽  
...  

Background: For diseases with a genetic cause genomics can deliver improved diagnostics and facilitate access to targeted treatments. Drug pharmacodynamics and pharmacokinetics are often dependent on genetic variation underlying these processes. As pharmacogenomics comes of age it may be the first way in which genomics is utilised at a population level. Still required is guidance and standards of how genomic information can be communicated within the health record, and how clinicians should be alerted to variation impacting the use of medicines. Methods: The Professional Record Standards Body commissioned by National Health Service England developed guidance on using pharmacogenomics information in clinical practice. We conducted research with those implementing pharmacogenomics in England and internationally to produce guidance and recommendations for a systems-based approach. Results: A consensus viewpoint is that systems need to be in place to ensure the safe provision of pharmacogenomics information that is curated, actionable and up-to-date. Standards should be established with respect to notification and information exchange, which could impact new or existing prescribing and these must be in keeping with routine practice. Alerting systems should contribute to safer practices. Conclusion: Ensuring pharmacogenetics information is available to make use of medicines safer will require major effort of which this guidance is a beginning. Standards are required to ensure useful genomic information within the health record can be communicated to clinicians in the right format and times to be actioned successfully. A multidisciplinary group of stakeholders must be engaged in developing pharmacogenomic standards to support the most appropriate prescribing.

2021 ◽  
Author(s):  
Kimberly Anne Gudzune ◽  
Klaus Lemke ◽  
Anne K. Monroe ◽  
Jonathan P. Weiner

BACKGROUND Clinical information may frequently be missing from the electronic health record (EHR), and contributes to delayed care, adverse events, and additional services, which may be costly. Missing laboratory data might be valuable marker for population-level risk stratification to help identify patients at risk of high cost and utilization. OBJECTIVE To determine whether absent hemoglobin HbA1c results in the EHR stratifies risk of high healthcare costs and utilization among adults with diabetes mellitus (DM). METHODS Retrospective U.S. cohort with EHR and claims data (2012-2013) of 6,270 continuously insured and care-engaged patients with DM who had ≥1 ambulatory visit in 2012. HbA1c availability defined as “HbA1c present” if ≥1 HbA1c EHR result was available in 2012 and otherwise as “HbA1c absent.” Patient’s annual healthcare costs, presence of any inpatient hospitalization, and presence of any emergency department (ED) visit in 2012 (concurrent) and 2013 (prospective).We used linear and logistic regression analyses, adjusting for age, gender and comorbidity, to determine associations with concurrent and prospective healthcare costs, emergency department (ED) visit, and hospitalization. RESULTS Overall, HbA1c result was absent from the EHR in 20.2%. Absent HbA1c status had significantly greater healthcare costs than HbA1c present (Concurrent difference: $5,081, p<0.001; Prospective difference: $5,489, p<0.001). Absent HbA1c status was significantly more likely to have an ED visit than HbA1c present (Concurrent: OR 1.44, p<0.001; Prospective: OR 1.29, p=0.01). No significant differences in hospitalization existed between groups. CONCLUSIONS Markers indicating absent laboratory results in the EHR, such as HbA1c availability, may be a promising population-level risk stratification approach. HbA1c availability appears to offer clinically relevant information associated with high healthcare costs and utilization. Future research might use markers identifying HbA1c or other laboratory results absent from the EHR to trigger various quality improvement interventions, such as health information exchange, clinical decision support, or care management.


2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
R Salari ◽  
A Dahlberg ◽  
A Sarkadi ◽  
K Fängström

Abstract Low participation in evidence-based parenting programs not only presents a major challenge for population trials where a minimum level of intervention exposure is necessary to detect population-level impact, but also undermines the incorporation of these programs into routine practice settings. As part of a large population trial, we aimed to increase participation in a series of parenting seminars by using a simple direct-to-consumer marketing strategy, i.e., redesigning the program flyer. We captured parents' attention by affirming that “parenting is not always easy”, highlighted the potential benefits of participation, clarified what participation entailed, and addressed some of the common barriers such as the stigma associated with participation in parenting programs. Because fathers and mothers were shown to have different needs, we tailored the flyers to mothers and fathers separately. Testing the flyers on a small sample of parents showed that both mothers and fathers perceived the flyers as relevant. As expected, mothers were more likely to express interest in the program when they saw the flyer which focused on benefits related to dealing with child behavioural problems and featured a mother-child dyad, while fathers preferred the flyer which highlighted the benefits related to dealing with emotional problems, and featured a father-child dyad. Next, following the same procedure that was used to deliver the original flyers over the first 18 months of the project, we used the new flyers to inform parents about the upcoming seminars over the next 24 months. The preliminary results showed that although the average number of parents participating in each seminar had initially decreased from about seven to four, after the introduction of the new flyers, the number increased consistently and reached an average of nine parents during the last 6-month period. The results shows that program uptake can be increased using simple direct-to-consumer marketing strategies.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hoon Choi ◽  
Joon Pyo Jeon ◽  
Jaewon Huh ◽  
Youme Kim ◽  
Wonjung Hwang

Abstract Background Pulmonary artery catheter insertion is a routine practice in high-risk patients undergoing cardiac surgery. However, pulmonary artery catheter insertion is associated with numerous complications that can be devastating to the patient. Incorrect placement is an overlooked complication with few case reports to date. Case presentation An 18-year-old male patient underwent elective mitral valve replacement due to severe mitral valve regurgitation. The patient had a history of synovial sarcoma, and Hickman catheter had been inserted in the right internal jugular vein for systemic chemotherapy. We made multiple attempts to position the pulmonary artery catheter in the correct position but failed. A chest radiography revealed that the pulmonary artery catheter was bent and pointed in the cephalad direction. Removal of the pulmonary artery catheter was successful, and the patient was discharged 10 days after the surgery without complications. Conclusions To prevent misplacement of the PAC, clinicians should be aware of multiple risk factors in difficult PAC placement, and be prepared to utilize adjunctive methods, such as TEE and fluoroscopy.


2009 ◽  
Vol 101 (4) ◽  
pp. 1749-1754 ◽  
Author(s):  
Christopher M. Laine ◽  
Kevin M. Spitler ◽  
Clayton P. Mosher ◽  
Katalin M. Gothard

The amygdala plays a crucial role in evaluating the emotional significance of stimuli and in transforming the results of this evaluation into appropriate autonomic responses. Lesion and stimulation studies suggest involvement of the amygdala in the generation of the skin conductance response (SCR), which is an indirect measure of autonomic activity that has been associated with both emotion and attention. It is unclear if this involvement marks an emotional reaction to an external stimulus or sympathetic arousal regardless of its origin. We recorded skin conductance in parallel with single-unit activity from the right amygdala of two rhesus monkeys during a rewarded image viewing task and while the monkeys sat alone in a dimly lit room, drifting in and out of sleep. In both experimental conditions, we found similar SCR-related modulation of activity at the single-unit and neural population level. This suggests that the amygdala contributes to the production or modulation of SCRs regardless of the source of sympathetic arousal.


2005 ◽  
Vol 09 (01) ◽  
pp. 45-51
Author(s):  
Alexander Blankstein ◽  
Aharon Chechick ◽  
Abraham Adunski ◽  
Uri Givon ◽  
Yigal Mirovski ◽  
...  

Soft tissue masses are amongst the commonest complaints encountered in orthopedic practice. Of these, masses found in the hand and the wrist are presented at higher frequency. They are often painful and may cause limitation of movement. This work describes the prevalence and the nature of soft tissue masses in the hand and wrist encountered in routine practice. This work was performed to assess the characteristics of soft tissue mass in the hand and the effectiveness of ultrasonography in the diagnosis of soft tissue masses and their differentiation from other lesions in the hand and wrist. Orthopedic surgical conditions that involve soft tissue in the hand and wrist may remain a diagnostic challenge when clinical diagnosis is uncertain and standard X-rays are non-diagnostic. High resolution ultrasound is widely available, non-invasive, without damage of radiation, imaging modality that can help the diagnosis. We reviewed retrospectively 25 patients with soft tissue masses. We compared the ultrasound findings with the histological findings in seven operated patients. A substantial majority of these lesions occurred in the right hand: 79% of the lesions were in the dorsal aspect of the hand, of which 37% were distal to the wrist joint, among them 42% at wrist either radial or ulnar; and 21% of the lesions were found in the volar aspect, among them 17% at wrist aspect, either radial or ulnar side. No predisposing factors could be found. The findings of this study reaffirm the utility of ultrasonography as primary diagnostic tool in routine orthopedic practice.


2010 ◽  
Vol 17 (01) ◽  
pp. 55-58
Author(s):  
ZAHID PARVEZ ◽  
FARID AHMAD CHAUDHARY ◽  
AJMAL HASAN NAZQVI ◽  
Muniza Saeed

Placement of epicardial wires on the right atrial and right ventricle surfaces is a routine practice in cardiac surgery. These pacingelectrodes are used for invasive pacing of the myocardium for a variety of emergent and elective conditions postoperatively. There is uncertaintyin actual practice about the optimum time for their removal, and practice varies widely between different institutions. Objectives: To determine thetime related efficacy of these pacing electrodes after cardiac surgery, to find out the optimum time of their removal. Period: July 2008 toOctober 2008. Patients & Methods: 47 patients those underwent coronary artery bypass surgery were prospectively enrolled and evaluatedwith standard 12 lead ECG and ventricle pacing threshold immediately after surgery and on the 5t h postoperative day. The patients were dividedinto two subgroups according to their left ventricle ejection fraction ( > 40% verses < 40%). Results: There was significant difference in theeffective pacing threshold in groupl and 2 on immediate post operative period and on day 5. (P = 0.002 and P = 0.02 respectively) The sensingthreshold immediately after operation and on 5t h post operative day also differed significantly (P = 0.009 in group 1 and 0.02 in group 2) Theeffective VVI* pacing was lost in 17 patients (40.5%) on the 5t h post operative day and comparison of effective pacing threshold in the twogroups showed no significant difference during the same period of time (P = NS). "Ventrculo-ventrical inhibition. Conclusions: The epicardialpacing wires have little usefulness after the fifth postoperative day and should be removed by this time. In addition postoperative pacingthreshold was not affected by the decreased left ventricular function.


2016 ◽  
Vol 23 (4) ◽  
pp. 701-710 ◽  
Author(s):  
Jeremy L Warner ◽  
Matthew J Rioth ◽  
Kenneth D Mandl ◽  
Joshua C Mandel ◽  
David A Kreda ◽  
...  

Abstract Background Precision cancer medicine (PCM) will require ready access to genomic data within the clinical workflow and tools to assist clinical interpretation and enable decisions. Since most electronic health record (EHR) systems do not yet provide such functionality, we developed an EHR-agnostic, clinico-genomic mobile app to demonstrate several features that will be needed for point-of-care conversations. Methods Our prototype, called Substitutable Medical Applications and Reusable Technology (SMART)® PCM, visualizes genomic information in real time, comparing a patient’s diagnosis-specific somatic gene mutations detected by PCR-based hotspot testing to a population-level set of comparable data. The initial prototype works for patient specimens with 0 or 1 detected mutation. Genomics extensions were created for the Health Level Seven® Fast Healthcare Interoperability Resources (FHIR)® standard; otherwise, the prototype is a normal SMART on FHIR app. Results The PCM prototype can rapidly present a visualization that compares a patient’s somatic genomic alterations against a distribution built from more than 3000 patients, along with context-specific links to external knowledge bases. Initial evaluation by oncologists provided important feedback about the prototype’s strengths and weaknesses. We added several requested enhancements and successfully demonstrated the app at the inaugural American Society of Clinical Oncology Interoperability Demonstration; we have also begun to expand visualization capabilities to include cancer specimens with multiple mutations. Discussion PCM is open-source software for clinicians to present the individual patient within the population-level spectrum of cancer somatic mutations. The app can be implemented on any SMART on FHIR-enabled EHRs, and future versions of PCM should be able to evolve in parallel with external knowledge bases.


2018 ◽  
Vol 7 (3) ◽  
pp. e000088 ◽  
Author(s):  
Muge Capan ◽  
Stephen Hoover ◽  
Kristen E Miller ◽  
Carmen Pal ◽  
Justin M Glasgow ◽  
...  

BackgroundIncreasing adoption of electronic health records (EHRs) with integrated alerting systems is a key initiative for improving patient safety. Considering the variety of dynamically changing clinical information, it remains a challenge to design EHR-driven alerting systems that notify the right providers for the right patient at the right time while managing alert burden. The objective of this study is to proactively develop and evaluate a systematic alert-generating approach as part of the implementation of an Early Warning Score (EWS) at the study hospitals.MethodsWe quantified the impact of an EWS-based clinical alert system on quantity and frequency of alerts using three different alert algorithms consisting of a set of criteria for triggering and muting alerts when certain criteria are satisfied. We used retrospectively collected EHRs data from December 2015 to July 2016 in three units at the study hospitals including general medical, acute care for the elderly and patients with heart failure.ResultsWe compared the alert-generating algorithms by opportunity of early recognition of clinical deterioration while proactively estimating alert burden at a unit and patient level. Results highlighted the dependency of the number and frequency of alerts generated on the care location severity and patient characteristics.ConclusionEWS-based alert algorithms have the potential to facilitate appropriate alert management prior to integration into clinical practice. By comparing different algorithms with regard to the alert frequency and potential early detection of physiological deterioration as key patient safety opportunities, findings from this study highlight the need for alert systems tailored to patient and care location needs, and inform alternative EWS-based alert deployment strategies to enhance patient safety.


Author(s):  
Keith Sherringham

The monetized catalyst and impetus for the adoption of Green ICT by business are explored in this paper. For a business to significantly reduce its environmental footprint through the use of Green ICT, a strategic transformation of business is required. Such a transformation includes changes to business models, a redefinition of business processes, a realignment of information exchange, and integration of unified communication. Without the right impetuses and catalysts, a strategic transformation of a business may take a long time or, at worst, may not occur because of incumbency, cost, and risk. Like other strategic changes, the implementation of Green ICT is likely to be achieved through a series of tactical changes aligned to an overall strategy. However, such an incremental tactical approach requires consistency and persistency in taking advantage of many small business opportunities to implement Green ICT. Such an adoption of Green ICT is only likely to occur because of the business benefits achieved. Any catalyst and impetus for the adoption of Green ICT must provide tangible (monetized) benefits to a business, as well as prevent adverse outcomes.


Author(s):  
Alberto De la Rosa Algarín ◽  
Steven A. Demurjian ◽  
Timoteus B. Ziminski ◽  
Yaira K. Rivera Sánchez ◽  
Robert Kuykendall

Today’s applications are often constructed by bringing together functionality from multiple systems that utilize varied technologies (e.g. application programming interfaces, Web services, cloud computing, data mining) and alternative standards (e.g. XML, RDF, OWL, JSON, etc.) for communication. Most such applications achieve interoperability via the eXtensible Markup Language (XML), the de facto document standard for information exchange in domains such as library repositories, collaborative software development, health informatics, etc. The use of a common data format facilitates exchange and interoperability across heterogeneous systems, but challenges in the aspect of security arise (e.g. sharing policies, ownership, permissions, etc.). In such situations, one key security challenge is to integrate the local security (existing systems) into a global solution for the application being constructed and deployed. In this chapter, the authors present a Role-Based Access Control (RBAC) security framework for XML, which utilizes extensions to the Unified Modeling Language (UML) to generate eXtensible Access Control Markup Language (XACML) policies that target XML schemas and instances for any application, and provides both the separation and reconciliation of local and global security policies across systems. To demonstrate the framework, they provide a case study in health care, using the XML standards Health Level Seven’s (HL7) Clinical Document Architecture (CDA) and the Continuity of Care Record (CCR). These standards are utilized for the transportation of private and identifiable information between stakeholders (e.g. a hospital with an electronic health record, a clinic’s electronic health record, a pharmacy system, etc.), requiring not only a high level of security but also compliance to legal entities. For this reason, it is not only necessary to secure private information, but for its application to be flexible enough so that updating security policies that affect millions of documents does not incur a large monetary or computational cost; such privacy could similarly involve large banks and credit card companies that have similar information to protect to deter identity theft. The authors demonstrate the security framework with two in-house developed applications: a mobile medication management application and a medication reconciliation application. They also detail future trends that present even more challenges in providing security at global and local levels for platforms such as Microsoft HealthVault, Harvard SMART, Open mHealth, and open electronic health record systems. These platforms utilize XML, equivalent information exchange document standards (e.g., JSON), or semantically augmented structures (e.g., RDF and OWL). Even though the primary use of these platforms is in healthcare, they present a clear picture of how diverse the information exchange process can be. As a result, they represent challenges that are domain independent, thus becoming concrete examples of future trends and issues that require a robust approach towards security.


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