Clinical Decision Support Tool
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JMIR Cancer ◽  
10.2196/28527 ◽  
2021 ◽  
Vol 7 (3) ◽  
pp. e28527
Kanhua Yin ◽  
Jingan Zhou ◽  
Preeti Singh ◽  
Jin Wang ◽  
Danielle Braun ◽  

Background Genetic testing for germline cancer susceptibility genes is widely available. The (All Syndromes Known to Man Evaluator) tool is a clinical decision support tool that provides evidence-based risk predictions for individuals with pathogenic variants in cancer susceptibility genes. Objective The aim of this study was to understand the search behavior of the tool users, identify the patterns of queries entered, and discuss how to further improve the tool. Methods We analyzed the user-generated queries collected between December 12, 2018, and October 8, 2019. The gene frequencies of the user-generated queries were compared with previously published panel testing data to assess the correspondence between usage and prevalence of pathogenic variants. The frequencies of prior cancer in the user-generated queries were compared with the most recent US population–based cancer incidence. Results A total of 10,085 search queries were evaluated. The average age submitted in the queries was 48.8 (SD 16.5) years, and 84.1% (8478/10,085) of the submitted queries were for females. BRCA2 (1671/10,085, 16.6%), BRCA1 (1627/10,085, 16.1%), CHEK2 (994/10,085, 9.9%), ATM (662/10,085, 6.6%), and APC (492/10,085, 4.9%) were the top 5 genes searched by users. There was a strong linear correlation between genes queried by users and the frequency of pathogenic variants reported in published panel testing data (r=0.95, r2=0.90, P<.001). Over half of the queries (5343/10,085, 53.0%) included a prior personal history of cancer. The frequencies of prior cancers in the queries on females were strongly correlated with US cancer incidences (r=0.97, r2=0.95, P<.001), while the same correlation was weaker among the queries on males (r=0.69, r2=0.47, P=.02). Conclusions The patients entered in the tool are a representative cohort of patients with pathogenic variants in cancer susceptibility genes in the United States. While a majority of the queries were on breast cancer susceptibility genes, users also queried susceptibility genes with lower prevalence, which may represent a transformation from single gene testing to multigene panel testing. Owing to these changing tides, more efforts are needed to improve evidence-based clinical decision support tools to better aid clinicians and their practice.

2021 ◽  
Vol 26 (5) ◽  
pp. 472-477
Amy Kruger Howard ◽  
Kimberly Claeys ◽  
Jessica M. Biggs ◽  
Kristine A. Parbuoni ◽  
Kristie Johnson ◽  

OBJECTIVE Verigene blood culture panels comprise rapid diagnostic testing, which aids in early bacteremia species identification. This study determined the concordance of Verigene rapid diagnostic results compared with the Vitek reference standard in patients admitted to a children's hospital. METHODS This was a 3-year retrospective observational study of neonatal and pediatric patients ≤18 years admitted to a children's hospital with confirmed bacteremia for whom Verigene testing was performed. Verigene testing was conducted on cultures with reported growth on Gram stain and final organism speciation confirmed via Vitek. Percent concordance and positive percent agreement with 95% CIs were calculated for Verigene panel-identifiable organisms. Negative percent agreement with 95% CIs was calculated for non-panel organisms. Time-to-result was calculated from Gram stain reporting to both Verigene and Vitek final organism susceptibility. RESULTS One hundred thirty-five Gram-positive (GP) and 51 Gram-negative (GN) isolates were identified through Vitek. Verigene GP panel-detectable organisms were correctly identified 96.9% (125/129) at the genus level and 95.3% (123/129) at the species level. Overall positive percent agreement was 95.3 (CI: 90.2–98.3). Negative percent agreement was 83.3 (CI: 35.9–99.6) for the 6 non-panel GP organisms. All GN isolates were correctly identified on Verigene. Median time-to-result was 2.9 hours (IQR 2.6, 3.2) and 44.4 hours (IQR: 35.4, 52.5) for Verigene and final susceptibilities, respectively. There was a statistically significant time savings of 41.5 hours (CI: 29.8–53.2) for identification and detection of resistance markers (p &lt; 0.0001). CONCLUSION Verigene concordance at our institution aligns with results from previously published studies and can be considered a reliable clinical decision-support tool.

2021 ◽  
Vol 11 (7) ◽  
pp. 596
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.

2021 ◽  
Vol 16 (1) ◽  
Rebecca C. Rossom ◽  
JoAnn M. Sperl-Hillen ◽  
Patrick J. O’Connor ◽  
A. Lauren Crain ◽  
Laurel Nightingale ◽  

Abstract Objective Most Americans with opioid use disorder (OUD) do not receive indicated medical care. A clinical decision support (CDS) tool for primary care providers (PCPs) could address this treatment gap. Our primary objective was to build OUD-CDS tool and demonstrate its functionality and accuracy. Secondary objectives were to achieve high use and approval rates and improve PCP confidence in diagnosing and treating OUD. Methods A convenience sample of 55 PCPs participated. Buprenorphine-waivered PCPs (n = 8) were assigned to the intervention. Non-waivered PCPs (n = 47) were randomized to intervention (n = 24) or control (n = 23). Intervention PCPs received access to the OUD-CDS, which alerted them to patients at potentially increased risk for OUD or overdose and guided diagnosis and treatment. Control PCPs provided care as usual. Results The OUD-CDS was functional and accurate following extensive multi-phased testing. PCPs used the OUD-CDS in 5% of encounters with at-risk patients, far less than the goal of 60%. OUD screening confidence increased for all intervention PCPs and OUD diagnosis increased for non-waivered intervention PCPs. Most PCPs (65%) would recommend the OUD-CDS and found it helpful with screening for OUD and discussing and prescribing OUD medications. Discussion PCPs generally liked the OUD-CDS, but use rates were low, suggesting the need to modify CDS design, implementation strategies and integration with existing primary care workflows. Conclusion The OUD-CDS tool was functional and accurate, but PCP use rates were low. Despite low use, the OUD-CDS improved confidence in OUD screening, diagnosis and use of buprenorphine. NIH Trial registration NCT03559179. Date of registration: 06/18/2018. URL:

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