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- W2980348913 abstract "The Journal of Molecular Diagnostics (JMD)—the official journal of the Association for Molecular Pathology (AMP) and co-owned by the American Society for Investigative Pathology (ASIP)—has been a key component for communicating among our practitioners and other medical disciplines. The AMP has provided a forum for experts to share ideas and insights by supporting workshops at the annual meetings and coordinating focused workgroups to develop expert, consensus, and evidence-based guidelines and recommendations for best laboratory practices. The JMD has served as the preferred platform to disseminate these collective principles through peer-reviewed publications to AMP members and the broader clinical laboratory community. From November 1999 to August 2019, the JMD has published 106 issues and three supplements. These issues included hundreds of assay validation studies which have been highly valued examples of implementation of new techniques and methods in clinical diagnostic laboratories. Demonstrations of assay validity have provided examples for the practical application of techniques and methods as well as roadmaps to fulfill guidelines and develop standards. Quality measures for regulatory compliance are also featured in many of these studies, illustrating the increased requirements for professional expertise inherent in clinical laboratory operations. Most assay validations incorporate accepted technology comparisons to introduce newer approaches and quality improvements as well as the limitations of various methods that have been in use. The JMD has also published studies that broaden our understanding of test performance in specific patient populations or ethnic groups, focusing not only on international studies but clinical centers within the US that serve immigrant populations. Dozens of multi-center and multi-laboratory comparison studies1McGinniss M.J. Chen R. Pratt V.M. Buller A. Quan F. Strom C.M. Sun W. Crossley B. Development of a web-based query tool for quality assurance of clinical Molecular genetic test results.J Mol Diagn. 2007; 9: 95-98Abstract Full Text Full Text PDF PubMed Scopus (3) Google Scholar, 2Johnson M.A. Yoshitomi M.J. Richards C.S. A comparative study of five technologically diverse CFTR testing platforms.J Mol Diagn. 2007; 9: 401-407Abstract Full Text Full Text PDF PubMed Scopus (18) Google Scholar, 3Riley J.D. Procop G.W. Kottke-Marchant K. Wyllie R. Lacbawan F.L. Improving molecular genetic test utilization through order restriction, test review, and guidance.J Mol Diagn. 2015; 17: 225-229Abstract Full Text Full Text PDF PubMed Scopus (35) Google Scholar, 4Emmert-Buck M.R. Strausberg R.L. Krizman D.B. Bonaldo M.F. Bonner R.F. Bostwick D.G. Brown M.R. Buetow K.H. Chuaqui R.F. Cole K.A. Duray P.H. Englert C.R. Gillespie J.W. Greenhut S. Grouse L. Hillier L.W. Katz K.S. Klausner R.D. Kuznetzov V. Lash A.E. Lennon G. Linehan W.M. Liotta L.A. Marra M.A. Munson P.J. Ornstein D.K. Prabhu V.V. Prange C. Schuler G.D. Soares M.B. Tolstoshev C.M. Vocke C.D. Waterston R.H. Molecular profiling of clinical tissue specimens.J Mol Diagn. 2000; 2: 60-66Abstract Full Text Full Text PDF PubMed Scopus (57) Google Scholar, 5Ledford M. Friedman K.D. Hessner M.J. Moehlenkamp C. Williams T.M. Larson R.S. A multi-site study for detection of factor V (leiden) mutation from genomic DNA using a homogeneous invader microtiter plate fluorescence resonance energy transfer (FRET) assay.J Mol Diagn. 2000; 2: 97-104Abstract Full Text Full Text PDF PubMed Scopus (34) Google Scholar, 6Arber D.A. Braziel R.M. Bagg A. Bijwaard K.E. Evaluation of T cell receptor testing in lymphoid neoplasms: results of a multicenter study of 29 extracted DNA and paraffin-embedded samples.J Mol Diagn. 2001; 3: 133-140Abstract Full Text Full Text PDF PubMed Scopus (36) Google Scholar, 7Bagg A. Braziel R.M. Arber D.A. Bijwaard K.E. Chu A.Y. Immunoglobulin heavy chain gene analysis in lymphomas: a multi-center study demonstrating the heterogeneity of performance of polymerasec reaction assays.J Mol Diagn. 2002; 4: 81-89Abstract Full Text Full Text PDF PubMed Scopus (87) Google Scholar, 8Giuffre G. ller A.M. Brodegger T. Bocker-Edmonston T. Gebert J. Kloor M. Dietmaier W. Kullmann F. Buttner R. Tuccari G. Ruschoff J. German HNPCC Consortium, German Cancer Aid (Deutsche Krebshilfe)Microsatellite analysis of hereditary nonpolyposis colorectal cancer-associated colorectal adenomas by laser-assisted microdissection.J Mol Diagn. 2005; 7: 160-170Abstract Full Text Full Text PDF PubMed Scopus (46) Google Scholar, 9Christensen T.M. Jama M. 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Interlaboratory performance of a microarray-based gene expression test to determine tissue of origin in poorly differentiated and undifferentiated cancers.J Mol Diagn. 2008; 10: 67-77Abstract Full Text Full Text PDF PubMed Scopus (81) Google Scholar, 12Wolff D.J. Heaney D.L. Neuwald P.D. Stellrecht K.A. Press R.D. Multi-site PCR-based CMV viral load assessment-assays demonstrate linearity and precision, but lack numeric standardization: a report of the Association for Molecular Pathology.J Mol Diagn. 2009; 11: 87-92Abstract Full Text Full Text PDF PubMed Scopus (44) Google Scholar, 13Pratt V.M. Caggana M. Bridges C. Buller A.M. DiAntonio L. Highsmith W.E. Holtegaard L.M. Muralidharan K. Rohlfs E.M. Tarleton J. Toji L. Barker S.D. Kalman L.V. Development of genomic reference materials for cystic fibrosis genetic testing.J Mol Diagn. 2009; 11: 186-193Abstract Full Text Full Text PDF PubMed Scopus (21) Google Scholar, 14Whitehall V. Tran K. Umapathy A. Grieu F. Hewitt C. Evans T.-J. Ismail T. Li W.Q. Collins P. Ravetto P. Leggett B. Salto-Tellez M. Soong R. Fox S. Scott R.J. Dobrovic A. Iacopetta B. A multicenter blinded sudy to evaluate KRAS mutation testing methodologies in the clinical setting.J Mol Diagn. 2009; 11: 543-552Abstract Full Text Full Text PDF PubMed Scopus (113) Google Scholar, 15Xiang B. Zhu H. Shen Y. Miller D.T. Lu K. Hu X. Andersson H.C. Narumanchi T.M. Wang Y. Martinez J.E. Wu B.-L. Li P. Li M.M. Chen T.-J. Fan Y.-S. Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases.J Mol Diagn. 2010; 12: 204-212Abstract Full Text Full Text PDF PubMed Scopus (61) Google Scholar, 16Pratt V.M. Zehnbauer B. Wilson J.A. Baak R. Babic N. Bettinotti M. Buller A. Butz K. Campbell M. Civalier C. El-Badry A. Farkas D.H. Lyon E. Mandal S. McKinney J. Muralidharan K. Noll L. Sander T. Shabbeer J. Smith C. Telatar M. Toji L. Vairavan A. Vance C. Weck K.E. Wu A.H.B. Yeo K.T. Zeller M. Kalman L. Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.J Mol Diagn. 2010; 12: 835-846Abstract Full Text Full Text PDF PubMed Scopus (82) Google Scholar, 17Pritchard C.C. Smith C. Salipante S.J. Lee M.K. Thornton A.M. Nord A.S. Gulden C. Kupfer S.S. Swisher E.M. Bennett R.L. Novetsky A.P. Jarvik G.P. Olopade O.I. Goodfellow P.J. King M.-C. Tait J.F. Walsh T. ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.J Mol Diagn. 2012; 14: 357-366Abstract Full Text Full Text PDF PubMed Scopus (164) Google Scholar, 18Beau-Faller M. Blons H. Domerg C. Gajda D. Richard N. Escande F. Solassol J. Denis M.G. Cayre A. Nanni-Metellus I. Olschwang S. Lizard S. Piard F. Pretet J.-L. de Fraipont F. Bièche I. de Cremoux P. Rouquette I. Bringuier P.-P. Mosser J. Legrain M. Voegeli A.-C. Saulnier P. Morin F. Pignon J.-P. Zalcman G. Cadranel J. A Multicenter blinded study evaluating EGFR and KRAS mutation testing methods in the clinical non-small cell lung cancer setting - IFCT/ERMETIC2 project part 1.J Mol Diagn. 2014; 16: 45-55Abstract Full Text Full Text PDF PubMed Scopus (31) Google Scholar, 19Pratt V.M. Everts R.E. Aggarwal P. Beyer B.N. Broeckel U. Epstein-Baak R. Hujsak P. Kornreich R. Liao J. Lorier R. Scott S.A. Huang Smith C. Toji L.H. Turner A. Kalman L.V. Characterization of 137 cenomic DNA reference materials for 28 pharmacogenetic genes.J Mol Diagn. 2016; 18: 109-123Abstract Full Text Full Text PDF PubMed Scopus (83) Google Scholar, 20Dequeker E.M.C. Keppens C. Egele C. Delen S. Lamy A. Lemoine A. Sabourin J.-C. Andrieu C. Ligtenberg M. Fetique D. Tops B. Descarpentries C. Blons H. Denoux Y. Aube C. Penault-Llorca F. Hofman P. Leroy K. Le Marechal C. Doucet L. Duranton-Tanneur V. Pedeutour F. Soubeyran I. Côté J.-F. Emile J.-F. Vignaud J.-M. Monhoven N. Haddad V. Laurent-Puig P. van Krieken H. Nowak F. Lonchamp E. Bellocq J.-P. Rouleau E. Three rounds of external quality assessment in France to evaluate the performance of 28 platforms for multiparametric molecular testing in metastatic colorectal and non-small cell lung cancer.J Mol Diagn. 2016; 18: 205-214Abstract Full Text Full Text PDF PubMed Scopus (24) Google Scholar, 21Zhang R. Zhang H. Li Y. Han Y. Xie J. Li J. External quality assessment for detection of fetal trisomy 21, 18, and 13 by massively parallel sequencing in clinical laboratories.J Mol Diagn. 2016; 18: 244-252Abstract Full Text Full Text PDF PubMed Scopus (11) Google Scholar, 22Davies K.D. Farooqi M.S. Gruidl M. Hill C.E. Woolworth-Hirschhorn J. Jones H. Jones K.L. Magliocco A. Mitui M. O'Neill P.H. O'Rourke R. Patel N.M. Qin D. Ramos E. Rossi M.R. Schneider T.M. Smith G.H. Zhang L. Park J.Y. Aisner D.L. Multi-institutional FASTQ file exchange as a means of proficiency testing for next-generation sequencing bioinformatics and variant interpretation.J Mol Diagn. 2016; 18: 572-579Abstract Full Text Full Text PDF PubMed Scopus (19) Google Scholar, 23Bettinotti M.P. Ferriola D. Duke J.L. Mosbruger T.L. Tairis N. Jennings L. Kalman L.V. Monos D. Characterization of 108 genomic DNA reference materials for 11 human leukocyte antigen loci.J Mol Diagn. 2018; 20: 703-715Abstract Full Text Full Text PDF Scopus (8) Google Scholar, 24Santani A. Simen B.B. Briggs M. Lebo M. Merker J.D. Nikiforova M. Vasalos P. Voelkerding K. Pfeifer J. Funke B. Designing and implementing NGS tests for inherited disorders. a practical framework with step-by-step guidance for clinical laboratories.J Mol Diagn. 2019; 21: 369-374Abstract Full Text Full Text PDF PubMed Scopus (11) Google Scholar have been published to illustrate the collective experiences and challenges of our colleagues and peers. Many were organized and produced by AMP workgroups; others were formed by groups of laboratory directors and experts with shared needs and perspectives. These have featured contributions from academic centers, reference laboratories, and industry laboratories—reflecting the diversity of AMP members and highlighting the interconnectedness of our practice venues. At least 30 recommendations for best laboratory practices to aid molecular pathology laboratories in achieving quality operations, standardization, and regulatory compliance have been published in the JMD. In the same way that the early workshop sessions of AMP meetings provided forums for vigorous discussion and debate about the most effective molecular biology methods during the early days of our specialty, more than half of these are expert consensus guidance25White P.L. Barton R. Guiver M. Linton C.J. Wilson S. Smith M. Gomez B.L. Carr M.J. Kimmitt P.T. Seaton S. Rajakumar K. Holyoake T. Kibbler C.C. Johnson E. Hobson R.P. Jones B. Barnes R.A. United Kingdom fungal polymerase chain reaction consensus group. a consensus on fungal polymerase chain reaction diagnosis?.J Mol Diagn. 2006; 8: 376-384Abstract Full Text Full Text PDF PubMed Scopus (87) Google Scholar, 26Wolff D.J. Bagg A. Cooley L.D. Dewald G.W. Hirsch B.A. Jacky P.B. Rao K.W. Rao P.N. Association for Molecular Pathology Clinical Practice Committee and the American College of Medical Genetics Laboratory Quality Assurance CommitteeGuidance for fluorescence in situ hybridization testing in hematologic disorders.J Mol Diagn. 2007; 9: 134-143Abstract Full Text Full Text PDF PubMed Scopus (104) Google Scholar, 27Wilson J.A. Pratt V.M. Phansalkar A. Muralidharan K. Highsmith Jr., W.E. Beck J.C. Bridgeman S. Courtney E.M. Epp L. Ferreira-Gonzalez A. Hjelm N.L. Holtegaard L.M. Jama M.A. Jakupciak J.P. Johnson M.A. Labrousse P. Lyon E. Prior T.W. Richards C.S. Richie K.L. Roa B.B. Rohlfs E.M. Sellers T. Sherman S.L. Siegrist K.A. Silverman L.M. 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As a complement to the advocacy role that the AMP has exemplified regarding regulatory oversight and compliance for molecular diagnostics, the JMD has also published position statements, perspectives, and commentaries,77Kaul K.L. Leonard D.G.B. Gonzalez A. Garrett C.T. Oversight of genetic testing: an update.J Mol Diagn. 2001; 3: 85-91Abstract Full Text Full Text PDF PubMed Scopus (10) Google Scholar, 78Cho M.K. Illangasekare S. Weaver M.A. Leonard D.G.B. Merz J.F. Effects of patents and licenses on the provision of clinical genetic testing services.J Mol Diagn. 2003; 5: 3-8Abstract Full Text Full Text PDF PubMed Scopus (151) Google Scholar, 79Mansfield E. O'Leary T.J. Gutman S.I. Food and Drug Administration regulation of in vitro diagnostic devices.J Mol Diagn. 2005; 7: 2-7Abstract Full Text Full Text PDF PubMed Scopus (39) Google Scholar, 80Ferreira-Gonzalez A. Emmadi R. Day S.P. Klees R.F. Leib J.R. Lyon E. Nowak J.A. Pratt V.M. Williams M.S. Klein R.D. 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The clinical utility of molecular pathology findings was originally recognized for discerning clinical diagnoses. Now, the support of clinical care decisions has expanded beyond initial diagnosis to include prognostic indications, carrier testing, prenatal testing, presymptomatic screening, disease predisposition, genotype-phenotype correlations, minimal residual disease detection, treatment selection, resistance to therapy, adverse drug reactions, disease risk stratification, and gene targeted therapies. The role of the molecular pathologist has also expanded beyond laboratory expert to a consulting member of the diagnostic team. Gene-targeted therapeutics require accurate and reliable detection of specific genetic signatures that will identify which patients are most likely to have a favorable response to therapy or perhaps achieve no benefit at all. In addition to the original subdivision specialties of AMP (cancer, infectious disease, and genetics), which influenced the specialty areas of JMD submissions, the Journal has grown to add pharmacogenomics and pathology informatics to reflect the changing expertise required of our practitioners. The complexity and volume of data that are now presented in the journal submissions have challenged reviewers, extended both review and revision timelines, and necessitated re-evaluation of some editorial requirements. Changes in scholarly publishing, for both print and online features, have also brought transitions in JMD communications. Open access publishing options, pre-print servers, and social media promotions through LinkedIn, Facebook, and Twitter accelerate access to accepted manuscripts. The past 20 years have also brought broader recognition of the field of molecular pathology and the importance of laboratory findings in clinical care decisions, with many more journals adding molecular diagnostics to their scope of publishing. Many medical disciplines which rely on molecular pathology laboratory data, but may not be limited to laboratory professionals, constitute new avenues to share clinical trial data, clinical utility of molecular findings, and insights for appropriate use of laboratory testing. The JMD also welcomes these topics for submissions as well as other areas that demonstrate changing demands and advantages of molecular pathology professionals' expertise in quality patient care. We also encourage submission of translational work that bridges the gap from research laboratories to clinical settings providing advance appreciation of the next trend in technology, the next biomarker associated with disease, or a new therapeutic target. As my colleagues, Karen Kaul83Kaul K.L. The Journal of Molecular Diagnostics: 20 years of education and training.J Mol Diagn. 2019; 21: 933-934Abstract Full Text Full Text PDF PubMed Scopus (2) Google Scholar and Timothy O'Leary,84O'Leary T.J. The Journal of Molecular Diagnostics: 20 years of clinical innovation.J Mol Diagn. 2019; 21: 935-937Abstract Full Text Full Text PDF Scopus (1) Google Scholar have expressed, it has been a pleasure and a privilege to be trusted with the stewardship of the JMD in the presentation of excellent, innovative work from many thought-leaders in molecular pathology. It has been exciting and inspirational to communicate the defining recommendations and guidelines produced by the AMP expert workgroups. Readers will soon see some changes in the JMD as the staff, editors, and editorial board adapt the journal content to serve the emerging needs and scope of molecular pathologists' roles in delivering effective laboratory diagnostics and consultative support for physicians and other medical professionals." @default.
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