Retaining the Confidence of the Public in Molecular Genetic Testing – Quality Assurance

2000 ◽  
Vol 3 (4) ◽  
pp. 164-169 ◽  
Author(s):  
Simon Patton ◽  
David Barton ◽  
Rob Elles
Keyword(s):  
Quality Assurance ◽  
Genetic Testing ◽  
Molecular Genetic ◽  
Molecular Genetic Testing ◽  
The Public

scholarly journals Initial Diagnostic Workup of Acute Leukemia: Guideline From the College of American Pathologists and the American Society of Hematology

2017 ◽  
Vol 141 (10) ◽  
pp. 1342-1393 ◽  
Author(s):  
Daniel A. Arber ◽  
Michael J. Borowitz ◽  
Melissa Cessna ◽  
Joan Etzell ◽  
Kathryn Foucar ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Acute Leukemia ◽  
Lymphoblastic Leukemia ◽  
Molecular Genetic ◽  
Clinical Information ◽  
Molecular Genetic Testing ◽  
Acute Leukemias ◽  
Prognostic Evaluation ◽  
The Public ◽  
American Society

Context.— A complete diagnosis of acute leukemia requires knowledge of clinical information combined with morphologic evaluation, immunophenotyping and karyotype analysis, and often, molecular genetic testing. Although many aspects of the workup for acute leukemia are well accepted, few guidelines have addressed the different aspects of the diagnostic evaluation of samples from patients suspected to have acute leukemia. Objective.— To develop a guideline for treating physicians and pathologists involved in the diagnostic and prognostic evaluation of new acute leukemia samples, including acute lymphoblastic leukemia, acute myeloid leukemia, and acute leukemias of ambiguous lineage. Design.— The College of American Pathologists and the American Society of Hematology convened a panel of experts in hematology and hematopathology to develop recommendations. A systematic evidence review was conducted to address 6 key questions. Recommendations were derived from strength of evidence, feedback received during the public comment period, and expert panel consensus. Results.— Twenty-seven guideline statements were established, which ranged from recommendations on what clinical and laboratory information should be available as part of the diagnostic and prognostic evaluation of acute leukemia samples to what types of testing should be performed routinely, with recommendations on where such testing should be performed and how the results should be reported. Conclusions.— The guideline provides a framework for the multiple steps, including laboratory testing, in the evaluation of acute leukemia samples. Some aspects of the guideline, especially molecular genetic testing in acute leukemia, are rapidly changing with new supportive literature, which will require on-going updates for the guideline to remain relevant.

Stand der Implementierung der OECD-Leitlinien für Qualitätssicherung im molekulargenetischen Labor im deutschsprachigen Raum/The status of implementation of the OECD guidelines for quality assurance in molecular genetic testing in the German speaking area

2013 ◽  
Vol 37 (2) ◽  
Author(s):  
Silvia Lechner ◽  
Magdalena Hagleitner ◽  
Bettina Staudinger
Keyword(s):  
Quality Assurance ◽  
Genetic Testing ◽  
Molecular Genetics ◽  
Molecular Genetic ◽  
Molecular Genetic Testing ◽  
The Status ◽  
German Speaking

ZusammenfassungDie Frage nach der in der Literatur geforderten Qualitätsarbeit in molekulargenetischen Laboratorien ist Gegenstand dieser Arbeit. Untersucht werden Art und Umfang des praktischen Qualitätsmanagements.Auf Basis der OECD-Guidelines for Quality Assurance in Molecular Genetic Testing 2007 wurde ein Fragebogen mit 40 Fragen entwickelt. Daten von 144 molekulargenetischen Labors (MGTL) wurden durch eine postalische Fragebogenerhebung im September 2009 gesammelt und mit SPSS 15.0 und EXCEL ausgewertet.Die 144 möglichen, kontaktierten MGTL im deutschsprachigen Raum setzten sich zusammen aus 122 MGTL in Deutschland, 13 MGTL in Österreich und 9 MGTL in der Schweiz. Es nahmen 48 an der Fragebogenerhebung teil (Rücklaufquote von 33,3%), wovon 9 MGTL aufgrund von Umstrukturierungen im Labor den Fragebogen nicht ausfüllten. Alle gehören dem Berufsverband Deutscher Humangenetiker (BVDH) an (n=144, insgesamt Rücklaufquote 33,3%). Die 39 Studienteilnehmer erklärten, dass sie Tests für 4–400 verschiedene Krankheiten anbieten. 64,1% der Befragten gaben an, dass sie bereits über ein Qualitätsmanagementsystem verfügen und 35,9% der Teilnehmer waren in der Planungsphase eines Qualitätsmanagementsystems. 82,21% gaben an, dass sie in „The European Molecular Genetics Quality Network“ (EMQN) teilnehmen.Die Studie hat gezeigt, dass vielfältige Ansätze der Qualitätsarbeit existieren. Es herrscht eine Konzentration auf die Ergebnisqualität vor, die Integration der OECD-Guidelines kann weitgehend nachgewiesen werden. Die rasche Entwicklung von Untersuchungsmethoden stellt für die praktische Qualitätsarbeit eine gegenwärtige und zukünftige Herausforderung dar.

The UK National External Quality Assessment Scheme (UK NEQAS) for molecular genetic testing in haemophilia

2006 ◽  
Vol 96 (11) ◽  
pp. 597-601 ◽  
Author(s):  
Anne Goodeve ◽  
Marian Hill ◽  
Ian Jennings ◽  
Steve Kitchen ◽  
Isobel Walker ◽  
...  
Keyword(s):  
Quality Assurance ◽  
Genetic Testing ◽  
Quality Assessment ◽  
Cell Line ◽  
External Quality Assessment ◽  
Molecular Genetic ◽  
Molecular Genetic Testing ◽  
External Quality ◽  
External Quality Assessment Scheme ◽  
The Uk

SummaryMolecular genetic analysis of families with haemophilia and other inherited bleeding disorders is nowa common laboratory investigation. In contrast to phenotypic testing in which strict quality control is adhered to, in haemophilia molecular genetic testing there has been a lack of any external quality assurance schemes. In 1998 the UK National External Quality Assessment Scheme (UK NEQAS) established a pilot quality assurance scheme for molecular genetic testing in haemophilia. Results from three initial surveys highlighted problems with the quality of samples when used to screen for the intron 22 inversion within the F8 gene. The scheme was re-launched in 2003, and since that time there have been five exercises involving whole blood or immortalised cell line DNA. The results together with an overall summary of the exercise are subsequently returned to participants. Exercises to date have focused exclusively on haemophilia A and QA, material has included screening for the intron 1 and intron 22 inversions as well as sequence analysis. A paper exercise circulated in 2003 highlighted problems with the format of reports and, following feedback to participants, onlya single error has been made in the subsequent four exercises. Participating laboratories now receive QA material every six months. Immortalised cell line material was introduced in 2005 and was shown to perform well. This will allow expansion of the scheme and a reduction in the dependence on blood donation.

scholarly journals Quality assurance practices in Europe: a survey of molecular genetic testing laboratories

2012 ◽  
Vol 20 (11) ◽  
pp. 1118-1126 ◽  
Author(s):  
Sarah Berwouts ◽  
Katrina Fanning ◽  
Michael A Morris ◽  
David E Barton ◽  
Elisabeth Dequeker
Keyword(s):  
Quality Assurance ◽  
Genetic Testing ◽  
Molecular Genetic ◽  
Molecular Genetic Testing ◽  
Testing Laboratories

scholarly journals Diagnosing Paraproteinemic Keratopathy: A Case Report

2021 ◽  
pp. 337-343
Author(s):  
Eugenie Mok ◽  
Ka Wai Kam ◽  
Anthony J. Aldave ◽  
Alvin L. Young
Keyword(s):  
Optical Coherence Tomography ◽  
Genetic Testing ◽  
Serum Protein ◽  
Molecular Genetic ◽  
Anterior Segment ◽  
Protein Electrophoresis ◽  
Serum Protein Electrophoresis ◽  
Optical Coherence ◽  
Molecular Genetic Testing ◽  
Corneal Opacities

A 65-year-old man presented with bilateral, painless, progressive blurring of vision over 9 years. Slit-lamp examination revealed bilateral subepithelial corneal opacities in clusters located at the mid-periphery. Anterior segment optical coherence tomography, in vivo confocal microscopy (IVCM), serum protein electrophoresis, and molecular genetic testing were performed to evaluate the cause of corneal opacities. Anterior segment optical coherence tomography revealed a band-like, hyperreflective lesion in the Bowman layer and anterior stroma of both corneas. IVCM revealed hyperreflective deposits in the epithelium, anterior stroma, and endothelium. Serum protein electrophoresis identified the presence of paraproteins (immunoglobulin kappa), and molecular genetic testing revealed absence of mutations in the transforming growth factor beta-induced gene (<i>TGFBI</i>) and collagen type XVII alpha 1 gene (<i>COL17A1</i>). The ocular diagnosis of paraproteinemic keratopathy eventually led to a systemic diagnosis of monoclonal gammopathy of undetermined significance by our hematologist/oncologist. Paraproteinemic keratopathy is a rare differential diagnosis in patients with bilateral corneal opacities and therefore may be misdiagnosed as corneal dystrophy or neglected as scars. In patients with bilateral corneal opacities of unknown cause, serological examination, adjunct anterior segment imaging, and molecular genetic testing play a role in establishing the diagnosis.

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