Journal of Applied Laboratory Medicine最新文献

{"title":"Implementation of Integrated Clinical Pharmacogenomics Testing at an Academic Medical Center.","authors":"Claire E Knezevic, James M Stevenson, Jonathan Merran, Isabel Snyder, Grant Restorick, Christopher Waters, Mark A Marzinke","doi":"10.1093/jalm/jfae128","DOIUrl":"10.1093/jalm/jfae128","url":null,"abstract":"<p><strong>Background: </strong>Pharmacogenomics has demonstrated benefits for clinical care, including a reduction in adverse events and cost savings. However, barriers in expanded implementation of pharmacogenomics testing include prolonged turnaround times and integration of results into the electronic health record with clinical decision support. A clinical workflow was developed and implemented to facilitate in-house result generation and incorporation into the electronic health record at a large academic medical center.</p><p><strong>Methods: </strong>An 11-gene actionable pharmacogenomics panel was developed and validated using a QuantStudio 12K Flex platform. Allelic results were exported to a custom driver and rules engine, and result messages, which included a diplotype and predicted metabolic phenotype, were sent to the electronic health record; an electronic consultation (eConsult) service was integrated into the workflow. Postimplementation monitoring was performed to evaluate the frequency of actionable results and turnaround times.</p><p><strong>Results: </strong>The actionable pharmacogenomics panel covered 39 alleles across 11 genes. Metabolic phenotypes were resulted alongside gene diplotypes, and clinician-facing phenotype summaries (Genomic Indicators) were presented in the electronic health record. Postimplementation, 8 clinical areas have utilized pharmacogenomics testing, with 56% of orders occurring in the outpatient setting; 22.1% of requests included at least one actionable pharmacogene, and 67% of orders were associated with a pre- or postresult electronic consultation. Mean turnaround time from sample collection to result was 4.6 days.</p><p><strong>Conclusions: </strong>A pharmacogenomics pipeline was successfully operationalized at a quaternary academic medical center, with direct integration of results into the electronic health record, clinical decision support, and eConsult services.</p>","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"259-273"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142830394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High-Sensitivity and Conventional Cardiac Troponin-I Assays in AL Amyloidosis.","authors":"Maura C Dodge, Tatiana Prokaeva, Lisa Mendelson, Tracy Joshi, Vaishali Sanchorawala, Yachana Kataria","doi":"10.1093/jalm/jfae111","DOIUrl":"10.1093/jalm/jfae111","url":null,"abstract":"<p><strong>Background: </strong>Circulating cardiac troponin-I (cTnI) plays a crucial role in biomarker staging systems, offering important information for prognostification and risk stratification of patients with AL amyloidosis. High-sensitivity cTnI (HS-cTnI) assays have been introduced in practice; however, the data on the concordance between conventional and HS-cTnI and the utility of HS-cTnI in cardiac biomarker staging are lacking.</p><p><strong>Methods: </strong>Seventy-eight consecutive patients with AL amyloidosis who were prospectively evaluated at the Boston University Amyloidosis Center from October 2022 through March 2023 were included. cTnI was measured using the Abbott Architect cTnI chemiluminescent microparticle immunoassay (CMIA) and HS-cTnI using the Abbott Alinity HS-cTnI CMIA assay. Assay results were compared by Deming regression and Bland-Altman analyses, and cardiac biomarker stages were assigned and compared using both assay results.</p><p><strong>Results: </strong>Median cTnI and HS-cTnI concentrations were 13.0 and 7.0 ng/L, respectively. Bland-Altman analysis demonstrated a negative bias with HS-cTnI results (mean percent difference between assays: -49.8%) and the greatest variance occurring below 50 ng/L. Deming regression supported this negative discordance (slope, 0.66; intercept, -1.9). The use of HS-cTnI assay downgraded cardiac biomarker staging assignments from stage IIIA to stage II (n = 3) and from stage IIIB to stage II (n = 1).</p><p><strong>Conclusions: </strong>Overall agreement was demonstrated; however, a negative bias for HS-cTnI assay was noted at low concentrations. The application of the conventional cTnI threshold of >100 ng/L to HS-cTnI-based Boston University cardiac staging showed a trend toward downgraded staging assignments. The prognostic utility of HS-cTnI assay in biomarker staging warrants further investigation in patients with AL amyloidosis.</p>","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"315-324"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142569805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of 2 Sets of Immunoassays Used in Modified 2-Tiered Testing Algorithms for the Diagnosis of Lyme Disease.","authors":"Michael E Walsh, Daniel J Sietsma, Isabella W Martin, Lynn A Brunelle","doi":"10.1093/jalm/jfae127","DOIUrl":"10.1093/jalm/jfae127","url":null,"abstract":"<p><strong>Background: </strong>Since 2019, modified 2-tiered testing (MTTT) algorithms have been available for the diagnosis of Lyme disease. MTTTs replaced the standard algorithms that utilized enzyme immunoassays and immunoblots with sequential enzyme immunoassays that detect different antigens.</p><p><strong>Methods: </strong>We compared the performance of serological assays from ZEUS Scientific Inc. and DiaSorin Inc. that are used for the diagnosis of Lyme disease. Serological results were compared with clinical information gathered by chart review.</p><p><strong>Results: </strong>Percent positive agreement (PPA) and percent negative agreement (PNA) for total immunoglobulin G (IgG)/immunoglogulin M (IgM) (n = 120) were 64% (95% confidence interval 54% to 73%) and 100% (87% to 100%), respectively. PPA and PNA for IgG (n = 93) were 91% (80% to 97%) and 66% (52% to 78%), respectively. PPA and PNA for IgM (n = 93) were 75% (62% to 85%) and 95% (82% to 99%), respectively. Fewer positive total IgG/IgM results confirmed positive for either IgG or IgM for ZEUS compared to DiaSorin. Overall MTTT algorithm interpretation was concordant in 58% (55/95) of samples, and concordance improved when the results were limited to IgM in patients with symptom duration <30 days. Treatment with antibiotics was most strongly associated with IgM positivity.</p><p><strong>Conclusions: </strong>This analysis highlights differences in the performance characteristics between commercially available diagnostic assays for Lyme disease. Our data suggest that the DiaSorin assays would result in fewer positive total IgG/IgM tests, decreasing the required number of confirmatory IgG and IgM tests. This would potentially lead to fewer patients treated with antibiotics.</p>","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"370-379"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142548229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessing the Clinical Significance of the MCM6 c.-14011C/T Polymorphism in Lactose Intolerance: Insights from a Case Series.","authors":"Stine B Bruun, Jonna S Madsen, Pernille M Bøttger","doi":"10.1093/jalm/jfae138","DOIUrl":"10.1093/jalm/jfae138","url":null,"abstract":"","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"514-517"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Commentary on High HHV-6 Viral Load Detected in a CSF from an Adolescent Patient with Seizures.","authors":"Sharon M Geaghan","doi":"10.1093/jalm/jfae163","DOIUrl":"10.1093/jalm/jfae163","url":null,"abstract":"","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"503-504"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383650","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High Human Herpes Virus-6 Viral Load Detected in Cerebrospinal Fluid from an Adolescent Patient with Seizures.","authors":"Amy L Leber, Sophonie J Oyeniran, Huanyu Wang","doi":"10.1093/jalm/jfae164","DOIUrl":"10.1093/jalm/jfae164","url":null,"abstract":"","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"497-502"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lack of Association between Vitamin D Genetic Polymorphism and Virological Characteristics of Hepatitis B Infection.","authors":"Jéssica C da Silva, Amanda R Caetano, Ana C da F Mendonça, Leticia de P Scalioni, Moyra M Portilho, Cristianne S Bezerra, Vanessa A Marques, Juliana C Miguel, Karis M P Rodrigues, Cláudia A P Ivantes, Lia L Lewis-Ximenez, Livia M Villar","doi":"10.1093/jalm/jfae151","DOIUrl":"10.1093/jalm/jfae151","url":null,"abstract":"<p><strong>Background: </strong>Exploring polymorphisms in vitamin D-related genes (VDR) within the Brazilian population provides a valuable model to contribute to the influence of the host genetic variants on chronic viral hepatitis B (CHB).</p><p><strong>Methods: </strong>126 CHB patients were enrolled in the current study and clinical, laboratory, and 25-hydroxyvitamin D [25(OD)D] level data were obtained. Four VDR (rs7975232, rs1544410, rs10735810, rs731236) and 2 vitamin D-binding protein/carrier globulin (GC) polymorphisms (rs4588 and rs7041) were determined using TaqMan assays and nucleotide sequencing. Association studies were conducted among viral infection parameters and the patient's genetic variants.</p><p><strong>Results: </strong>Most patients were male (52.38%) with a mean age of 44.28 (±14.24) years, self-identified as White (32.54%), and exhibited vitamin D insufficiency status (42.06%). The hepatitis B virus (HBV) genotype A was predominant (50%) and 62.7% of the patients had detectable HBV DNA levels ≤log10 3 IU/mL. A significant association was observed between HBV genotype A with ApaI and FokI single nucleotide polymorphisms. However, no statistical association between VDR polymorphisms and viral load, viral polymerase mutations, or vitamin D status was found. Vitamin D concentration did not correlate to HBV viral load.</p><p><strong>Conclusions: </strong>Most HBV-infected individuals presented vitamin D insufficiency, and VDR polymorphism was not associated with virological characteristics except with HBV genotype A, demonstrating that some human genetic signatures are related to HBV genotype distribution.</p>","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"380-391"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142910985","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Performance of an N-Terminal Pro-B-Type Natriuretic Peptide Assay in Acute Heart Failure Diagnosis.","authors":"Lori B Daniels, Patience Ajongwen, Robert H Christenson, Carol L Clark, Deborah B Diercks, Gregory J Fermann, Sharon E Mace, Simon A Mahler, Peter S Pang, Zubaid Rafique, Michael S Runyon, James Tauras, Christopher R deFilippi","doi":"10.1093/jalm/jfae107","DOIUrl":"10.1093/jalm/jfae107","url":null,"abstract":"<p><strong>Background: </strong>We evaluated the Vitros® Immunodiagnostic Products N-terminal pro B-type natriuretic peptide (NT-proBNP) II assay for aiding in diagnosis of heart failure (HF) in patients with acute dyspnea.</p><p><strong>Methods: </strong>Serum concentrations of NT-proBNP were measured in patient samples from 20 emergency departments across the United States. Study endpoints included sensitivity, specificity, likelihood ratios, and predictive values for diagnosis of acute HF according to age-stratified cutoffs (450, 900, and 1800 pg/mL), and a rule-out age-independent cutoff (300 pg/mL). Additional measures were area under the curve (AUC) for receiver operating characteristic (ROC) curves. Results were also interpreted in patient subgroups with relevant comorbidities, and gray zone/intermediate assay values.</p><p><strong>Results: </strong>Of 2200 patients, 1095 (49.8%) were diagnosed with HF by clinical adjudication. Sensitivity and specificity for Vitros NT-proBNP II ranged from 84.0% to 92.1%, and 81.4% to 86.5%, respectively, within and across age groups, and positive predictive values were 80.4% to 85.7%. Using the rule-out cutoff, the negative predictive value was 97.9%, with a negative likelihood ratio of 0.02. In subgroups with comorbidities potentially affecting NT-proBNP concentrations, sensitivities ranged from 82.6% to 89.5%, and AUCs for ROC curves were 0.899 to 0.915.</p><p><strong>Conclusions: </strong>The Vitros NT-proBNP II assay demonstrated excellent clinical performance using age-stratified cutoffs along with other clinical information for supporting diagnosis of HF, and can rule out HF with a high negative predictive value using the age-independent cutoff. The assay retained utility in patient subgroups with conditions that influence NT-proBNP concentration, and for those with gray zone results.</p><p><strong>Clinicaltrials.gov registration number: </strong>NCT03548909.</p>","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"325-338"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142569804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessing Adherence to the PRISMA-DTA Guideline in Diagnostic Test Accuracy Systematic Reviews: A Five-Year Follow-up Analysis.","authors":"Jean-Paul Salameh, David Moher, Trevor A McGrath, Robert A Frank, Anahita Dehmoobad Sharifabadi, Nabil Islam, Eric Lam, Robert Adamo, Haben Dawit, Mohammed Kashif Al-Ghita, Brooke Levis, Brett D Thombs, Patrick M Bossuyt, Matthew D F McInnes","doi":"10.1093/jalm/jfae117","DOIUrl":"10.1093/jalm/jfae117","url":null,"abstract":"<p><strong>Background: </strong>We evaluated reporting of diagnostic test accuracy (DTA) systematic reviews using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA)-DTA and PRISMA-DTA for abstracts.</p><p><strong>Methods: </strong>We searched MEDLINE for recent DTA systematic reviews (September 2023-Mar 2024) to achieve a sample size of 100. Analyses evaluated adherence to PRISMA-DTA (and abstracts), on a per-item basis. Association of reporting with journal, country, impact factor (IF), index-test type, subspecialty area, use of supplemental material, PRISMA citation, word count, and PRISMA adoption was evaluated. Comparison to the baseline evaluation from 2019 was done. Protocol: https://doi.org/10.17605/OSF.IO/P25TE.</p><p><strong>Results: </strong>Overall adherence (n = 100) was 78% (20.3/26.0 items, SD = 2.0) for PRISMA-DTA and 52% (5.7/11.0 items, SD = 1.6) for abstracts. Infrequently reported items (<33% of studies): eligibility criteria, definitions for data extraction, synthesis of results, and characteristics of the included studies. Infrequently reported items in abstracts were characteristics of the included studies, strengths and limitations, and funding. Reporting completeness for full text was minimally higher in studies in higher IF journals [20.7 vs 19.8 items; 95% confidence interval (95%CI) (0.09; 1.77)], as well as studies that cited PRISMA [21.1 vs 20.1 items; 95%CI (0.04; 1.95)], or used supplemental material (20.7 vs 19.2 items; 95%CI (0.63; 2.35)]. Variability in reporting was not associated with author country, journal, abstract word count limitations, PRISMA adoption, structured abstracts, study design, subspecialty, open-access status, or index test. No association with word counts was observed among full text or abstracts. Compared to the baseline evaluation, reporting was improved for full texts [71% to 78%; 95%CI (1.18; 2.26)] but not for abstracts [50% to 52%; 95%CI (-0.20; 0.60)].</p><p><strong>Conclusions: </strong>Compared to the baseline evaluation published in 2019, we observed modest improved adherence to PRISMA-DTA and no improvement in PRISMA-DTA for abstracts reporting.</p>","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"416-431"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142856195","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"So I Guess I Am a Device? Making the Case for Professional Practice in the Context of the FDA's Final Rule on Laboratory-Developed Tests.","authors":"Andrew Bryan, Thomas E Grys, Erin H Graf","doi":"10.1093/jalm/jfae100","DOIUrl":"10.1093/jalm/jfae100","url":null,"abstract":"","PeriodicalId":46361,"journal":{"name":"Journal of Applied Laboratory Medicine","volume":" ","pages":"517-519"},"PeriodicalIF":1.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142298308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}