Reference materials for molecular diagnostics: Current achievements and future strategies.

BACKGROUND Molecular diagnoses have become more widespread in many areas of laboratory medicine where qualitative or quantitative approaches are used to detect nucleic acids. The increasing number of assay methods and the targets for molecular diagnostics contribute to variability in the test results among clinical laboratories. Thus, reference materials (RMs) are required to enhance the comparability of results. METHODS This review focuses on the definition of RMs as well as the production and characteristics of higher order RMs from different organizations and their future strategies. RESULTS We describe the recent progress in RMs, including the definition of RMs by the Joint Committee for Guides in Metrology, as well as the production and characteristics of higher order RMs by international official bodies. CONCLUSIONS There is an urgent need for RMs in nucleic acid testing, especially higher order RMs. To advance the harmonization and standardization of clinical nucleic acid detection, cooperation between the above organizations is proposed and different approaches to higher order RMs development are also needed.

[1]  X. Pang,et al.  Commutability of the First World Health Organization International Standard for Human Cytomegalovirus , 2015, Journal of Clinical Microbiology.

[2]  Angela M Caliendo,et al.  A commutable cytomegalovirus calibrator is required to improve the agreement of viral load values between laboratories. , 2009, Clinical chemistry.

[3]  Kerry R Emslie,et al.  Comparison of methods for accurate quantification of DNA mass concentration with traceability to the international system of units. , 2010, Analytical chemistry.

[4]  Yan Li,et al.  Quantification of plasmid DNA reference materials for Shiga toxin-producing Escherichia coli based on UV, HR-ICP-MS and digital PCR , 2016, Chemistry Central Journal.

[5]  Philip J R Day,et al.  Spectrophotometric analysis of nucleic acids: oxygenation-dependant hyperchromism of DNA , 2010, Analytical and bioanalytical chemistry.

[6]  Jinjie Wang,et al.  Highly sensitive method for assay of drug-induced apoptosis using fluorescence correlation spectroscopy. , 2012, Analytical chemistry.

[7]  Carolyn R. Steffen,et al.  Development of NIST standard reference material 2373: Genomic DNA standards for HER2 measurements , 2016, Biomolecular detection and quantification.

[8]  Paul Metcalfe,et al.  Establishment of the 1st International Genetic Reference Panel for Factor V Leiden, human gDNA. , 2006, Thrombosis and haemostasis.

[9]  Sabrina Gioria,et al.  Toward metrological traceability for DNA fragment ratios in GM quantification. 1. Effect of DNA extraction methods on the quantitative determination of Bt176 corn by real-time PCR. , 2007, Journal of agricultural and food chemistry.

[10]  Apostolos Burnetas,et al.  Comparison of ISO-GUM and Monte Carlo methods for the evaluation of measurement uncertainty: application to direct cadmium measurement in water by GFAAS. , 2011, Talanta.

[11]  M Dietel,et al.  Assessing standardization of molecular testing for non-small-cell lung cancer: results of a worldwide external quality assessment (EQA) scheme for EGFR mutation testing , 2014, British Journal of Cancer.

[12]  Barbara Zehnbauer,et al.  Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics. , 2013, Archives of pathology & laboratory medicine.

[13]  K. Kinzler,et al.  Digital PCR. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[14]  Yiping Shen,et al.  Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency , 2017, International journal of molecular sciences.

[15]  A M Caliendo,et al.  Interlaboratory Comparison of Cytomegalovirus Viral Load Assays , 2009, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

[16]  Paul Metcalfe,et al.  Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes , 2011, European Journal of Human Genetics.

[17]  Glyn Stacey,et al.  Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome , 2011, European Journal of Human Genetics.

[18]  Terence R Flotte,et al.  Characterization of a recombinant adeno-associated virus type 2 Reference Standard Material. , 2010, Human gene therapy.

[19]  Seiamak Bahram,et al.  Sequence Variation in Amplification Target Genes and Standards Influences Interlaboratory Comparison of BK Virus DNA Load Measurement , 2015, Journal of Clinical Microbiology.

[20]  Sarah Riman,et al.  Characterization of NIST human mitochondrial DNA SRM-2392 and SRM-2392-I standard reference materials by next generation sequencing. , 2017, Forensic science international. Genetics.

[21]  Mauro Panteghini,et al.  Traceability, reference systems and result comparability. , 2007, The Clinical biochemist. Reviews.

[22]  H Emons,et al.  A certified plasmid reference material for the standardisation of BCR–ABL1 mRNA quantification by real-time quantitative PCR , 2014, Leukemia.

[23]  Yuanyuan Song,et al.  Detection of 1,N(2)-propano-2'-deoxyguanosine adducts in genomic DNA by ultrahigh performance liquid chromatography-electrospray ionization-tandem mass spectrometry in combination with stable isotope dilution. , 2016, Journal of chromatography. A.

[24]  Jia Fan,et al.  Detecting Circulating Tumor DNA in Hepatocellular Carcinoma Patients Using Droplet Digital PCR Is Feasible and Reflects Intratumoral Heterogeneity , 2016, Journal of Cancer.

[25]  H. Kittler,et al.  Molecular classification of tumour cells in a patient with intravascular large B‐cell lymphoma , 2018, The British journal of dermatology.

[26]  Yuki Hatayama,et al.  Construction and Evaluation of Cytomegalovirus DNA Quantification System with Real-Time Detection Polymerase Chain Reaction , 2016, Yonago acta medica.

[27]  Peter M Vallone,et al.  Production and certification of NIST Standard Reference Material 2372 Human DNA Quantitation Standard , 2009, Analytical and bioanalytical chemistry.

[28]  Blaza Toman,et al.  Standard reference material 2366 for measurement of human cytomegalovirus DNA. , 2013, The Journal of molecular diagnostics : JMD.

[29]  Zhen-huan Zhang,et al.  Branched DNA-based Alu quantitative assay for cell-free plasma DNA levels in patients with sepsis or systemic inflammatory response syndrome. , 2016, Journal of critical care.

[30]  S H Neoh,et al.  Quantitation of targets for PCR by use of limiting dilution. , 1992, BioTechniques.

[31]  Rahman Jamal,et al.  Molecular Characterization of Somatic Alterations in Dukes’ B and C Colorectal Cancers by Targeted Sequencing , 2017, Front. Pharmacol..

[32]  Nathan D. Olson,et al.  DNA extract characterization process for microbial detection methods development and validation , 2012, BMC Research Notes.

[33]  Paul Metcalfe,et al.  Establishment of the first World Health Organization International Genetic Reference Panel for quantitation of BCR-ABL mRNA. , 2010, Blood.

[34]  P. Chomczyński,et al.  Effect of pH and ionic strength on the spectrophotometric assessment of nucleic acid purity. , 1997, BioTechniques.

[35]  P. Borer,et al.  Revised UV extinction coefficients for nucleoside-5'-monophosphates and unpaired DNA and RNA. , 2004, Nucleic acids research.

[36]  Ugo Pastorino,et al.  Novel method to detect microRNAs using chip-based QuantStudio 3D digital PCR , 2015, BMC Genomics.

[37]  Dylan R. Pillai,et al.  Detection of Plasmodium Infection by the illumigene Malaria Assay Compared to Reference Microscopy and Real-Time PCR , 2017, Journal of Clinical Microbiology.