scholarly journals Genomics as a Clinical Decision Support Tool: Successful Proof of Concept for Improved ASD Outcomes

2021 ◽  
Vol 11 (7) ◽  
pp. 596
Author(s):  
Heather Way ◽  
Grant Williams ◽  
Sharon Hausman-Cohen ◽  
Jordan Reeder

Considerable evidence is emerging that Autism Spectrum Disorder (ASD) is most often triggered by a range of different genetic variants that interact with environmental factors such as exposures to toxicants and changes to the food supply. Up to 80% of genetic variations that contribute to ASD found to date are neither extremely rare nor classified as pathogenic. Rather, they are less common single nucleotide polymorphisms (SNPs), found in 1–15% or more of the population, that by themselves are not disease-causing. These genomic variants contribute to ASD by interacting with each other, along with nutritional and environmental factors. Examples of pathways affected or triggered include those related to brain inflammation, mitochondrial dysfunction, neuronal connectivity, synapse formation, impaired detoxification, methylation, and neurotransmitter-related effects. This article presents information on four case study patients that are part of a larger ongoing pilot study. A genomic clinical decision support (CDS) tool that specifically focuses on variants and pathways that have been associated with neurodevelopmental disorders was used in this pilot study to help develop a targeted, personalized prevention and intervention strategy for each child. In addition to an individual’s genetic makeup, each patient’s personal history, diet, and environmental factors were considered. The CDS tool also looked at genomic SNPs associated with secondary comorbid ASD conditions including attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, and pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections/pediatric acute-onset neuropsychiatric syndrome (PANDAS/PANS). The interpreted genomics tool helped the treating clinician identify and develop personalized, genomically targeted treatment plans. Utilization of this treatment approach was associated with significant improvements in socialization and verbal skills, academic milestones and intelligence quotient (IQ), and overall increased ability to function in these children, as measured by autism treatment evaluation checklist (ATEC) scores and parent interviews.

Healthcare ◽  
2020 ◽  
Vol 8 (4) ◽  
pp. 100488
Author(s):  
Rachel Gold ◽  
Mary Middendorf ◽  
John Heintzman ◽  
Joan Nelson ◽  
Patrick O'Connor ◽  
...  

2020 ◽  
Vol 41 (S1) ◽  
pp. s368-s368
Author(s):  
Mary Acree ◽  
Kamaljit Singh ◽  
Urmila Ravichandran ◽  
Jennifer Grant ◽  
Gary Fleming ◽  
...  

Background: Empiric antibiotic selection is challenging and requires knowledge of the local antibiogram, national guidelines and patient-specific factors, such as drug allergy and recent antibiotic exposure. Clinical decision support for empiric antibiotic selection has the potential to improve adherence to guidelines and improve patient outcomes. Methods: At NorthShore University HealthSystem, a 4-hospital, 789 bed system, an automated point-of-care decision support tool referred to as Antimicrobial Stewardship Assistance Program (ASAP) was created for empiric antibiotic selection for 4 infectious syndromes: pneumonia, skin and soft-tissue infections, urinary tract infection, and intra-abdominal infection. The tool input data from the electronic health record, which can be modified by any user. Using an algorithm created with electronic health record data, antibiogram data, and national guidelines, the tool produces an antibiotic recommendation that can be ordered via a link to order entry. If the tool identifies a patient with a high likelihood for a multidrug-resistant infection, a consultation by an infectious diseases specialist is recommended. Utilization of the tool and associated outcomes were evaluated from July 2018 to May 2019. Results: The ASAP tool was executed by 140 unique, noninfectious diseases providers 790 times. The tool was utilized most often for pneumonia (194 tool uses), followed by urinary tract infection (166 tool uses). The most common provider type to use the tool was an internal medicine hospitalist. The tool increased adherence to the recommended antibiotic regimen for each condition. Antibiotic appropriateness was assessed by an infectious diseases physician. Antibiotics were considered appropriate when they were similar to the antibiotic regimen recommended by the ASAP. Inappropriate antibiotics were classified as broad or narrow. When antibiotic coverage was appropriate, hospital length of stay was statistically significantly shorter (4.8 days vs 6.8 days for broad antibiotics vs 7.4 days for narrow antibiotics; P < .01). No significant differences were identified in mortality or readmission. Conclusions: A clinical decision support tool in the electronic health record can improve adherence to recommended empiric antibiotic therapy. Use of appropriate antibiotics recommended by such a tool can reduce hospital length of stay.Funding: NoneDisclosures: None


2021 ◽  
Vol 12 ◽  
pp. 204209862199609
Author(s):  
Florine A. Berger ◽  
Heleen van der Sijs ◽  
Teun van Gelder ◽  
Patricia M. L. A. van den Bemt

Introduction: The handling of drug–drug interactions regarding QTc-prolongation (QT-DDIs) is not well defined. A clinical decision support (CDS) tool will support risk management of QT-DDIs. Therefore, we studied the effect of a CDS tool on the proportion of QT-DDIs for which an intervention was considered by pharmacists. Methods: An intervention study was performed using a pre- and post-design in 20 community pharmacies in The Netherlands. All QT-DDIs that occurred during a before- and after-period of three months were included. The impact of the use of a CDS tool to support the handling of QT-DDIs was studied. For each QT-DDI, handling of the QT-DDI and patient characteristics were extracted from the pharmacy information system. Primary outcome was the proportion of QT-DDIs with an intervention. Secondary outcomes were the type of interventions and the time associated with handling QT-DDIs. Logistic regression analysis was used to analyse the primary outcome. Results: Two hundred and forty-four QT-DDIs pre-CDS tool and 157 QT-DDIs post-CDS tool were included. Pharmacists intervened in 43.0% and 35.7% of the QT-DDIs pre- and post-CDS tool respectively (odds ratio 0.74; 95% confidence interval 0.49–1.11). Substitution of interacting agents was the most frequent intervention. Pharmacists spent 20.8 ± 3.5 min (mean ± SD) on handling QT-DDIs pre-CDS tool, which was reduced to 14.9 ± 2.4 min (mean ± SD) post-CDS tool. Of these, 4.5 ± 0.7 min (mean ± SD) were spent on the CDS tool. Conclusion: The CDS tool might be a first step to developing a tool to manage QT-DDIs via a structured approach. Improvement of the tool is needed in order to increase its diagnostic value and reduce redundant QT-DDI alerts. Plain Language Summary The use of a tool to support the handling of QTc-prolonging drug interactions in community pharmacies Introduction: Several drugs have the ability to cause heart rhythm disturbances as a rare side effect. This rhythm disturbance is called QTc-interval prolongation. It may result in cardiac arrest. For health care professionals, such as physicians and pharmacists, it is difficult to decide whether or not it is safe to proceed treating a patient with combinations of two or more of these QT-prolonging drugs. Recently, a tool was developed that supports the risk management of these QT drug–drug interactions (QT-DDIs). Methods: In this study, we studied the effect of this tool on the proportion of QT-DDIs for which an intervention was considered by pharmacists. An intervention study was performed using a pre- and post-design in 20 community pharmacies in The Netherlands. All QT-DDIs that occurred during a before- and after-period of 3 months were included. Results: Two hundred and forty-four QT-DDIs pre-implementation of the tool and 157 QT-DDIs post-implementation of the tool were included. Pharmacists intervened in 43.0% of the QT-DDIs before the tool was implemented and in 35.7% after implementation of the tool. Substitution of one of the interacting agents was the most frequent intervention. Pharmacists spent less time on handling QT-DDIs when the tool was used. Conclusion: The clinical decision support tool might be a first step to developing a tool to manage QT-DDIs via a structured approach.


2014 ◽  
Vol 141 (5) ◽  
pp. 718-723 ◽  
Author(s):  
Gary W. Procop ◽  
Lisa M. Yerian ◽  
Robert Wyllie ◽  
A. Marc Harrison ◽  
Kandice Kottke-Marchant

2021 ◽  
Vol 42 (Supplement_1) ◽  
pp. S31-S31
Author(s):  
Sena Veazey ◽  
Maria SerioMelvin ◽  
David E Luellen ◽  
Angela Samosorn ◽  
Alexandria Helms ◽  
...  

Abstract Introduction In disaster or mass casualty situations, access to remote burn care experts, communication, or resources may be limited. Furthermore, burn injuries are complex and require substantial training and knowledge beyond basic clinical care. Development and use of decision support (DS) technologies may provide a solution for addressing this need. Devices capable of delivering burn management recommendations can enhance the provider’s ability to make decisions and perform interventions in complex care settings. When coupled with merging augmented reality (AR) technologies these tools may provide additional capabilities to enhance medical decision-making, visualization, and workflow when managing burns. For this project, we developed a novel AR-based application with enhanced integrated clinical practice guidelines (CPGs) to manage large burn injuries for use in different environments, such as disasters. Methods We identified an AR system that met our requirements to include portability, infrared camera, gesture and voice control, hands-free control, head-mounted display, and customized application development abilities. Our goal was to adapt burn CPGs to make use of AR concepts as part of an AR-enabled burn clinical decision support system supporting four sub-applications to assist users with specific interventional tasks relevant to burn care. We integrated relevant CPGs and a media library with photos and videos as additional references. Results We successfully developed a clinical decision support tool that integrates burn CPGs with enhanced capabilities utilizing AR technology. The main interface allows input of patient demographics and injuries with step-by-step guidelines that follow typical burn management care and workflow. There are four sub-applications to assist with these tasks, which include: 1) semi-automated burn wound mapping to calculate total body surface area; 2) hourly burn fluid titration and recommendations for resuscitation; 3) medication calculator for accurate dosing in preparation for procedures and 4) escharotomy instructor with holographic overlays. Conclusions We developed a novel AR-based clinical decision support tool for management of burn injuries. Development included adaptation of CPGs into a format to guide the user through burn management using AR concepts. The application will be tested in a prospective research study to determine the effectiveness, timeliness, and performance of subjects using this AR-software compared to standard of care. We fully expect that the tool will reduce cognitive workload and errors, ensuring safety and proper adherence to guidelines.


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