Journal of Molecular Diagnostics最新文献_第3页

Analysis of Molecular Testing for Suspected Myeloproliferative Neoplasm at a Hybrid Community-Academic Health System 分析社区-学术混合医疗系统中疑似骨髓增生性肿瘤的分子检测。

IF 3.4 3区医学

Journal of Molecular Diagnostics Pub Date : 2025-01-01 DOI: 10.1016/j.jmoldx.2024.10.003

Andrew B. Stone , Ryan J. Martinez , Cade Arries , Andrew C. Nelson , Bharat Thyagarajan , Sophia Yohe , Pawel Mroz

{"title":"Analysis of Molecular Testing for Suspected Myeloproliferative Neoplasm at a Hybrid Community-Academic Health System","authors":"Andrew B. Stone , Ryan J. Martinez , Cade Arries , Andrew C. Nelson , Bharat Thyagarajan , Sophia Yohe , Pawel Mroz","doi":"10.1016/j.jmoldx.2024.10.003","DOIUrl":"10.1016/j.jmoldx.2024.10.003","url":null,"abstract":"<div><div>Testing for somatic mutations in <em>JAK2</em>, <em>MPL</em>, and <em>CALR</em> genes is critical in the diagnosis of myeloproliferative neoplasms (MPNs). However, this testing may have inadvertently led to increased requests to rule out MPN, including clinical situations with low pretest probability. This article examines <em>JAK2</em>, <em>MPL</em>, and <em>CALR</em> testing by next-generation sequencing (NGS) with the goal of formulating practical guidelines to make test use more efficient and effective. NGS results from 1482 patients tested between 2015 and March 2022 were retrieved, along with corresponding bone marrow biopsies and complete blood cell count results performed within 90 days before NGS, and 245 cases (16.5%) were positive for pathogenic variants in <em>JAK2</em>, <em>MPL</em>, or <em>CALR</em> genes. The findings showed an increase in the proportion of positive cases with patient age, and a statistically significant difference in red blood cell counts and platelet counts among patients with positive versus negative results. Using these factors, simple algorithms were constructed to predict positive results with a maximum sensitivity of 91%, while potentially eliminating 28% of negative test results. However, these models still failed to identify approximately 9% of patients with MPNs. Among these missed patients, many had either primary myelofibrosis or myelodysplastic syndrome/MPN. Considering a simple triage model to help guide MPN testing could represent a more cost-effective approach, particularly if missed patients could be further reduced.</div></div>","PeriodicalId":50128,"journal":{"name":"Journal of Molecular Diagnostics","volume":"27 1","pages":"Pages 42-53"},"PeriodicalIF":3.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Establishing a Variant Allele Frequency Cutoff for Manual Curation of Medical Exome Sequencing Data 为人工编辑医学外显子组测序数据设定变异等位基因频率临界值。

IF 3.4 3区医学

Journal of Molecular Diagnostics Pub Date : 2025-01-01 DOI: 10.1016/j.jmoldx.2024.09.006

Kate Sears , Caylin Hickey , Ryan Vincent , Jennifer Stocks-Candelaria , Jason Tate , Cody Bumgardner , Shulin Zhang , Justin B. Miller

{"title":"Establishing a Variant Allele Frequency Cutoff for Manual Curation of Medical Exome Sequencing Data","authors":"Kate Sears , Caylin Hickey , Ryan Vincent , Jennifer Stocks-Candelaria , Jason Tate , Cody Bumgardner , Shulin Zhang , Justin B. Miller","doi":"10.1016/j.jmoldx.2024.09.006","DOIUrl":"10.1016/j.jmoldx.2024.09.006","url":null,"abstract":"<div><div>Medical exome sequencing pipelines consist of various preprocessing steps to prioritize credible causal variants before a pathologist or variant curation scientist manually interprets potential findings that are then reported to patients. The variant allele frequency (VAF), reported as the fraction of sequencing reads supporting a variant call, can be used to screen for technical artifacts, yet a specific filtering threshold has yet to be established. A total of 13,122 manually curated variants, sequenced from 289 patients using the Agilent SureSelect Focused Exome enrichment kit at the University of Kentucky Clinical Genomics laboratory from October 2019 to May 2023, were evaluated. Totals of 278 single-nucleotide polymorphisms (SNPs) and 3340 SNPs as technical artifacts are clinically reported. All reported variants had a VAF between 0.33 and 0.63, and 82% (2725/3340) of sequencing artifacts had a VAF of <0.33. It is proposed that removing SNPs in which the VAF is less than approximately 0.30 reduces manual curation time by approximately 20% while capturing all medically relevant variants in medical exome sequencing data sets.</div></div>","PeriodicalId":50128,"journal":{"name":"Journal of Molecular Diagnostics","volume":"27 1","pages":"Pages 36-41"},"PeriodicalIF":3.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142479408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Charting the Genomic Frontier 绘制基因组前沿：实体肿瘤分子诊断的25年进化和未来展望。

IF 3.4 3区医学

Journal of Molecular Diagnostics Pub Date : 2025-01-01 DOI: 10.1016/j.jmoldx.2024.08.010

Jaclyn F. Hechtman , Brett Baskovich , Amber Fussell , Katherine B. Geiersbach , J. Bryan Iorgulescu , Deepika Sirohi , Anthony Snow , Nikoletta Sidiropoulos , Association for Molecular Pathology Solid Tumors Subdivision Leadership

引用次数: 0

Surveillance of Disease Progression in Metastatic Breast Cancer by Molecular Counting of Circulating Tumor DNA Using Plasma-SeqSensei Breast Cancer in Vitro Diagnostics Assay 使用 Plasma-SeqSensei 乳腺癌体外诊断试剂盒对循环肿瘤 DNA 进行分子计数，监测转移性乳腺癌的病情进展。

IF 3.4 3区医学

Journal of Molecular Diagnostics Pub Date : 2025-01-01 DOI: 10.1016/j.jmoldx.2024.08.011

Geert A. Martens , Jan Demol , Franceska Dedeurwaerdere , Kristof De Smet , Janusz Wesolowski , Dieter De Smet

{"title":"Surveillance of Disease Progression in Metastatic Breast Cancer by Molecular Counting of Circulating Tumor DNA Using Plasma-SeqSensei Breast Cancer in Vitro Diagnostics Assay","authors":"Geert A. Martens , Jan Demol , Franceska Dedeurwaerdere , Kristof De Smet , Janusz Wesolowski , Dieter De Smet","doi":"10.1016/j.jmoldx.2024.08.011","DOIUrl":"10.1016/j.jmoldx.2024.08.011","url":null,"abstract":"<div><div>Circulating tumor DNA (ctDNA) quantification surpasses cancer antigen 15 to 3 for metastatic breast cancer surveillance. Clinical translation, however, is limited because of uncertainties about the optimal method and clinically valid ctDNA decision thresholds. Plasma-SeqSensei Breast Cancer IVD kit (PSS) is a novel assay for ctDNA molecular counting, detecting ≥0.06% variant allele fractions in <em>AKT1</em>, <em>ERBB2</em>, <em>ESR1</em>, <em>KRAS</em>, <em>PIK3CA</em>, and <em>TP53.</em> PSS was validated against droplet digital PCR (ddPCR) in 201 samples from 16 subjects with <em>PIK3CA</em>/<em>TP53</em>-mutated cancers, longitudinally sampled for a median of 93 (range, 18 to 113) weeks, three to five weekly. PSS and ddPCR ctDNA levels correlate significantly (Spearman ρ, 0.923; 95% CI, 0.898–0.941) across 0% to 43% variant allele frequency (VAF) range. PSS predicts 12-week progression with high clinical accuracy (area under the curve, 0.848; 95% CI, 0.790–0.894). PSS validates a previously developed ddPCR classifier: <10 copies/mL (0.25% VAF); excludes >100 copies/mL (2.5% VAF); and confirms progression, with negative predictive value (95% CI) of 83% (76%–88%) and positive predictive value (95% CI) of 91% (81%–96%) (weighted κ, 0.856; 95% CI, 0.797–0.915). PSS thus confirms robust clinical thresholds (10 to 100 copies/mL, 0.25% to 2.5% VAF) for metastatic breast cancer surveillance, using absolute molecular counting.</div></div>","PeriodicalId":50128,"journal":{"name":"Journal of Molecular Diagnostics","volume":"27 1","pages":"Pages 25-35"},"PeriodicalIF":3.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Systematic Method to Detect Next-Generation Sequencing–Based Microsatellite Instability in Plasma Cell-Free DNA 一种在无浆细胞DNA中检测下一代基于测序的微卫星不稳定性的系统方法：plasmaMSI。

IF 3.4 3区医学

Journal of Molecular Diagnostics Pub Date : 2025-01-01 DOI: 10.1016/j.jmoldx.2024.10.002

Fengchang Huang , Lili Zhao , Hongyu Xie , Tiancheng Han , Jian Huang , Xiaoqing Wang , Jun Yang , Yuanyuan Hong , Jingchao Shu , Jianing Yu , Qingyun Li , Ji He , Weizhi Chen , Yu S. Huang , Wenliang Li

{"title":"A Systematic Method to Detect Next-Generation Sequencing–Based Microsatellite Instability in Plasma Cell-Free DNA","authors":"Fengchang Huang , Lili Zhao , Hongyu Xie , Tiancheng Han , Jian Huang , Xiaoqing Wang , Jun Yang , Yuanyuan Hong , Jingchao Shu , Jianing Yu , Qingyun Li , Ji He , Weizhi Chen , Yu S. Huang , Wenliang Li","doi":"10.1016/j.jmoldx.2024.10.002","DOIUrl":"10.1016/j.jmoldx.2024.10.002","url":null,"abstract":"<div><div>Microsatellite instability (MSI) detection using tumor tissue is a well-established prognostic and predictive biomarker for certain types of cancers. However, tumor tissue samples are less convenient to obtain than blood plasma samples. The main challenge facing next-generation sequencing–based MSI detection in blood plasma samples is the ultralow signal/noise ratio in plasma cell-free DNA (cfDNA). To address the challenge, plasmaMSI, a highly accurate cfDNA MSI detection method, is introduced with three novel performance-improving features: i) a set of stringent locus selection criteria to select loci with high robustness and compatibility across sequencing platforms; ii) a new deduplication strategy that greatly improves the signal/noise ratio for MSI detection; and iii) an MSI calling algorithm that customizes the baseline for each test sample based on its duplication rate. Through analytical validation in diluted cell line samples, the limit of detection of plasmaMSI was determined to be 0.15%. Furthermore, in analyzing 95 evaluable cfDNA samples from patients with gastrointestinal cancers, plasmaMSI exhibited a positive percentage agreement of 92.9% (39/42) and a negative percentage agreement of 100% (53/53) with tissue MSI-PCR. plasmaMSI provides novel solutions to key challenges in cfDNA MSI detection that have not been addressed by existing methods. It has also been systematically validated and is already used in clinical testing for patients with cancer.</div></div>","PeriodicalId":50128,"journal":{"name":"Journal of Molecular Diagnostics","volume":"27 1","pages":"Pages 62-73"},"PeriodicalIF":3.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900030","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

SARCP, a Clinical Next-Generation Sequencing Assay for the Detection of Gene Fusions in Sarcomas SARCP，用于检测肉瘤基因融合的临床新一代测序测定：首批 652 例病例的描述。

IF 3.4 3区医学

Journal of Molecular Diagnostics Pub Date : 2025-01-01 DOI: 10.1016/j.jmoldx.2024.10.004

Mazen A. Atiq , Jagadheshwar Balan , Patrick R. Blackburn , John M. Gross , Jesse S. Voss , Long Jin , Numrah Fadra , Jaime I. Davila , Beth A. Pitel , Simone Barreto Siqueira Parrilha Terra , Kay T. Minn , Rory A. Jackson , Christopher D. Hofich , Kurt S. Willkomm , Brenda J. Peterson , Sydney N. Clausen , Kandelaria M. Rumilla , Sounak Gupta , Ying-Chun Lo , Cris M. Ida , Kevin C. Halling

{"title":"SARCP, a Clinical Next-Generation Sequencing Assay for the Detection of Gene Fusions in Sarcomas","authors":"Mazen A. Atiq , Jagadheshwar Balan , Patrick R. Blackburn , John M. Gross , Jesse S. Voss , Long Jin , Numrah Fadra , Jaime I. Davila , Beth A. Pitel , Simone Barreto Siqueira Parrilha Terra , Kay T. Minn , Rory A. Jackson , Christopher D. Hofich , Kurt S. Willkomm , Brenda J. Peterson , Sydney N. Clausen , Kandelaria M. Rumilla , Sounak Gupta , Ying-Chun Lo , Cris M. Ida , Kevin C. Halling","doi":"10.1016/j.jmoldx.2024.10.004","DOIUrl":"10.1016/j.jmoldx.2024.10.004","url":null,"abstract":"<div><div>An amplicon-based targeted next-generation sequencing (NGS) assay for the detection of gene fusions in sarcomas was developed, validated, and implemented. This assay can detect fusions in targeted regions of 138 genes and <em>BCOR</em> internal tandem duplications. This study reviews our experience with testing on the first 652 patients analyzed. Gene fusions were detected in 238 (36.5%) of 652 cases, including 83 distinct fusions in the 238 fusion-positive cases, 10 of which had not been previously described. Among the 238 fusion-positive cases, the results assisted in establishing a diagnosis for 137 (58%) cases, confirmed a suspected diagnosis in 66 (28%) cases, changed a suspected diagnosis in 25 (10%) cases, and were novel fusions with unknown clinical significance in 10 (4%) cases. Twenty-six cases had gene fusions (<em>ALK</em>, <em>ROS1</em>, <em>NTRK1</em>, <em>NTRK3</em>, and <em>COL1A1::PDGFB</em>) for which there are targetable therapies. <em>BCOR</em> internal tandem duplications were identified in 6 (1.2%) of 485 patients. Among the 138 genes in the panel, 66 were involved in one or more fusions, and 72 were not involved in any fusions. There was little overlap between the genes involved as 5′-partners (31 different genes) and 3′-partners (37 different genes). This study shows the clinical utility of a next-generation sequencing gene fusion detection assay for the diagnosis and treatment of sarcomas.</div></div>","PeriodicalId":50128,"journal":{"name":"Journal of Molecular Diagnostics","volume":"27 1","pages":"Pages 74-95"},"PeriodicalIF":3.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Scientific Integrity Policy

IF 3.4 3区医学

Journal of Molecular Diagnostics Pub Date : 2025-01-01 DOI: 10.1016/S1525-1578(24)00302-7

引用次数: 0

Development of a Body of Knowledge for the Clinical Bioinformatician: Perspectives from the Association for Molecular Pathology's Clinical Genomics Bioinformatician Body of Knowledge Steering Committee. 临床生物信息学家知识体系的发展：来自分子病理学协会临床基因组学生物信息学家知识体系指导委员会的观点。

IF 3.4 3区医学

Journal of Molecular Diagnostics Pub Date : 2024-12-27 DOI: 10.1016/j.jmoldx.2024.12.002

Somak Roy, Amber Fussell, Danielle Jordan, Sabah Kadri, Annette Leon, Ryan J Schmidt, Robyn L Temple-Smolkin, Jason D Merker

{"title":"Development of a Body of Knowledge for the Clinical Bioinformatician: Perspectives from the Association for Molecular Pathology's Clinical Genomics Bioinformatician Body of Knowledge Steering Committee.","authors":"Somak Roy, Amber Fussell, Danielle Jordan, Sabah Kadri, Annette Leon, Ryan J Schmidt, Robyn L Temple-Smolkin, Jason D Merker","doi":"10.1016/j.jmoldx.2024.12.002","DOIUrl":"10.1016/j.jmoldx.2024.12.002","url":null,"abstract":"<p><p>The use of next-generation sequencing and other high-throughput technologies in the clinical molecular diagnostics laboratory requires the application of bioinformatics pipelines and other computational tools to analyze, visualize, and store these clinical data. Clinical bioinformaticians, individuals with the skills to develop, validate, and deploy these tools in a clinical setting, are needed to ensure that these molecular diagnostic technologies can be appropriately used for clinical care. Building on existing expertise in informatics, next-generation sequencing, and clinical molecular diagnostics, the Association for Molecular Pathology has generated a series to establish an initial clinical bioinformatician body of knowledge. These articles cover the potential roles of the clinical bioinformatician, assist molecular laboratory and clinical bioinformatics directors in understanding the various roles of the clinical bioinformatics team members, and provide guidance regarding the competencies and skill sets required. The three articles within this Body of Knowledge cover the following knowledge cores: i) Molecular Diagnostics, ii) Clinical Bioinformatics, Software, and Database Knowledge, and iii) Clinical Laboratory Regulation and Data Security. Many of the topics covered in these articles are broad and rapidly evolving; therefore, this Association for Molecular Pathology Clinical Bioinformatician Body of Knowledge article series is designed to provide an initial framework for the core bioinformatics skills required to function successfully within a molecular diagnostic laboratory.</p>","PeriodicalId":50128,"journal":{"name":"Journal of Molecular Diagnostics","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142903590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Predicting Consanguinity Rates from Exome Sequencing Data in the Lebanese Population. 从黎巴嫩人群外显子组测序数据预测亲缘率。

IF 3.4 3区医学

Journal of Molecular Diagnostics Pub Date : 2024-12-24 DOI: 10.1016/j.jmoldx.2024.11.008

Eileen Marie Hanna, Cybel Mehawej, Joelle Assy, Sandra Corbani, Rima Korban, Andre Megarbane, Eliane Chouery

{"title":"Predicting Consanguinity Rates from Exome Sequencing Data in the Lebanese Population.","authors":"Eileen Marie Hanna, Cybel Mehawej, Joelle Assy, Sandra Corbani, Rima Korban, Andre Megarbane, Eliane Chouery","doi":"10.1016/j.jmoldx.2024.11.008","DOIUrl":"10.1016/j.jmoldx.2024.11.008","url":null,"abstract":"<p><p>Consanguinity, prevalent in certain populations because of cultural and social factors, significantly increases the risk of genetic autosomal recessive disorders. In Lebanon, consanguineous marriages constitute 35.5% of unions, with first cousin marriages being the most common. This study aims to develop a model to predict consanguinity status using total runs of homozygosity (ROH) size derived from exome sequencing data. In this study, a cohort of 784 Lebanese individuals was analyzed, with consanguinity labels assigned based on pedigree information. ROHs were detected from exome sequencing data using AutoMap. The analysis focused on 521 subjects for whom the consanguinity or nonconsanguinity label was clearly determined, leading to the development of two logistic regression models: one including outliers (accuracy, 91%) and one excluding them (accuracy, 94%). The second model established specific ROH thresholds for categorizing consanguinity: nonconsanguineous [<40.28 megabases (Mb)], uncertain (40.28 to 79.17 Mb), probable consanguinity (79.18 to 118.06 Mb), and consanguineous (>118.06 Mb). This study provides a valuable tool for clinical genetics in populations with high consanguinity rates, offering insights into the genetic risks associated with consanguinity and aiding in the identification and counseling of affected individuals. Moreover, the current findings underline the importance of population-specific thresholds in accurately assessing consanguinity status.</p>","PeriodicalId":50128,"journal":{"name":"Journal of Molecular Diagnostics","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Development and Validation of a Rapid Point-of-Care CYP2C19 Genotyping Platform. 快速护理点CYP2C19基因分型平台的开发与验证

IF 3.4 3区医学

Journal of Molecular Diagnostics Pub Date : 2024-12-24 DOI: 10.1016/j.jmoldx.2024.12.001

Kerry A Burke, James O'Sullivan, Nicola Godfrey, Videha Sharma, Sian Hilton, Stuart J Wright, Nicholas S Greaves, William G Newman, John H McDermott

{"title":"Development and Validation of a Rapid Point-of-Care CYP2C19 Genotyping Platform.","authors":"Kerry A Burke, James O'Sullivan, Nicola Godfrey, Videha Sharma, Sian Hilton, Stuart J Wright, Nicholas S Greaves, William G Newman, John H McDermott","doi":"10.1016/j.jmoldx.2024.12.001","DOIUrl":"10.1016/j.jmoldx.2024.12.001","url":null,"abstract":"<p><p>Pharmacogenetic-guided prescribing can lead to more accurate medicine selection and dosing, improving patient outcomes and leading to better use of health care budgets. Loss-of-function variants in CYP2C19 influence an individual's ability to metabolize clopidogrel, increasing the risk of secondary vascular events following ischemic stroke and percutaneous coronary intervention. In acute clinical contexts, centralized laboratory-based testing is too slow to inform timely clinical decision-making. This work reports the development and analytical validation of the Genedrive CYP2C19 ID Kit, which provides rapid point-of-care genotyping from a buccal swab in approximately 1 hour. Buccal samples were collected from a total of 204 individuals between September 2023 and July 2024, alongside a blood or saliva sample for comparison with laboratory testing. In the final cohort of 202 patients, all point-of-care results were concordant with laboratory testing. In this assessment, the sensitivity and specificity of the CYP2C19 ID Kit was 100% (95% CI, 95.0%-100%) and 100% (95% CI, 97.2%-100%), respectively. The failure rate of the CYP2C19 ID Kit was 0.98%. This study confirms the analytical validity of the Genedrive CYP2C19 ID Kit. The Genedrive system is able to provide an accurate, rapid, noninvasive alternative to standard laboratory testing and can be used as a point-of-care test in the clinical environment.</p>","PeriodicalId":50128,"journal":{"name":"Journal of Molecular Diagnostics","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0