This report describes and evaluates the molecular diagnostics technologies that will play an important role in the practice of medicine, public health, pharmaceutical industry, forensics and biological warfare in the 21st century. This includes several polymerase chain reaction (PCR)-based technologies, fluorescent in situ hybridization (FISH), peptide nucleic acids (PNA), electrochemical detection of DNA, sequencing, mitochondrial DNA, biochips, nanotechnology and proteomic technologies.
Initial applications of molecular diagnostics were mostly for infections but are now increasing in the areas of genetic disorders, preimplantation screening and cancer. Genetic screening tests, despite some restrictions, is a promising area for future expansion of in vitro diagnostic market. Molecular diagnostics is being combined with therapeutics and forms an important component of integrated healthcare. Molecular diagnostic technologies are also involved in the development of personalized medicine based on pharmacogenetics and pharmacogenomics. Currently, there has been considerable interest in developing rapid diagnostic methods for point-of-care and biowarfare agents such as anthrax. Molecular diagnostic tests for COVID-19 are described.
The number of companies involved in molecular diagnostics has increased remarkably during the past few years. More than 1,000 companies have been identified to be involved in developing molecular diagnostics and 268 of these are profiled in the report along with tabulation of 657 collaborations. Despite the strict regulation, most of the development in molecular diagnostics has taken place in the United States, which has the largest number of companies.
The markets for molecular diagnostics technologies are difficult to estimate. Molecular diagnostics markets overlap with markets for non-molecular diagnostic technologies in the in vitro diagnostic market and are less well defined than those for pharmaceuticals. Molecular diagnostic markets are analyzed for 2020 according to technologies, applications and geographical regions. Forecasts are made up to 2030. A major portion of the molecular diagnostic market can be attributed to advances in genomics and proteomics. Biochip and nanobiotechnology are expected to make a significant contribution to the growth of molecular diagnostics.
This was the first commercial report on this topic and published as "DNA Diagnostics" in 1995 by PJB Publications, UK. A new edition in 1997 "Molecular Diagnostics I" as well as the next edition, "Molecular Diagnostics II" in 1999, were published by Decision Resources Inc, USA. All the three versions of the reports were well received and sold widely. The report has been rewritten several times.
Benefits of this report
- This report has evolved during the past 25 years, profiting from feedback by numerous readers and experts.
- The most comprehensive and up-to-date one-stop source of information on technical and commercial aspects of molecular diagnostics.
- Includes profiles of 268 companies, the largest number in any report on this topic.
- 500 references, cited in the report are included in the bibliography.
- The text is supplemented by 102 tables and 17 figures.
Who should read this report?
- Chief executive officers of molecular diagnostic companies.
- Business development executives of pharmaceutical and biotechnology companies.
- Executives of companies involved in developing integration of diagnosis and treatment as well as those interested in personalized medicine.
- Officers of genomic and proteomic companies interested in diagnostic technologies.
- Research scientists involved in the application of molecular diagnostic technologies.
- Planners of healthcare services.
Table of Contents
Part I: Technologies & Applications
0. Executive Summary
1. Introduction
- Definitions and scope of the subject
- Historical evolution of molecular diagnostics
- Molecular biology relevant to molecular diagnostics
- DNA
- DNA polymerases
- Restriction endonucleases
- RNA
- RNA polymerases
- Non-coding RNAs
- DNA transcription
- Chromosomes
- Chromatin
- Extrachromosomal DNA
- Telomeres
- Mitochondrial DNA
- Genes
- The genetic code
- Gene expression
- The human genome
- ENCODE
- Variations in the human genome
- Variations in DNA sequences
- Single nucleotide polymorphisms
- Haplotyping
- Copy number variations in the human genome
- Genotype and haplotypes
- Genomic imprinting
- Insertions and deletions in the human genome
- Complex chromosomal rearrangements
- Large scale variation in human genome
- Structural variations in the human genome
- Replication of the DNA helix
- Transposons
- Epigenetics/epigenomics
- DNA methylation
- Proteins
- Proteomics
- Monoclonal antibodies
- Aptamers
- Basics of molecular diagnostics
- Tracking DNA: the Southern blot
- Pulsed-field gel electrophoresis
- DNA Probes
- The polymerase chain reaction
- Basic Principles of PCR
- Target selection
- Detection of amplified DNA
- Impact of human genome project on molecular diagnostics
- Mapping and sequencing of structural variation from human genomes
- 1000 Genomes Project
- Human Variome Project
- Role of bioinformatics in molecular diagnostics
- Systems biology approach to molecular diagnostics
- Synthetic biology and molecular diagnostics
- Biomarkers
- Applications of molecular diagnostics
2. Molecular Diagnostic Technologies
- Introduction
- DNA sample collection and extraction
- Blood samples
- Buccal swabs and saliva
- Dried blood spots
- Formalin-fixed, paraffin-embedded tissues
- Manual vs automated DNA extraction
- Urine samples for transrenal DNA
- Sample preparation
- Pressure Cycling Technology
- Membrane immobilization of nucleic acids
- Automation of sample preparation in molecular diagnostics
- ABI PRISM 6700 Automated Nucleic Acid Workstation
- BioRobot technology
- COBAS AmpliPrep System
- GENESIS FE500 Workcell
- GeneMole
- PCR BioCube
- QIAsymphony
- Tigris instrument system
- Techniques for sample preparation suitable for automation
- Xtra Amp Genomic DNA Extraction
- Extraction of DNA from paraffin sections
- Dynabead technology
- SamPrep
- Use of magnetic particles for automation in genome analysis
- Companies involved in nucleic acid isolation
- Labeling and detection of nucleic acids
- Novel PCR methods
- Addressing limitations of PCR
- ARMS-PCR
- CAST-PCR
- Combined PCR-ELISA
- Convection PCR
- Co-Dx PCR
- Digital PCR
- Dumbbell PCR
- Emulsion PCR
- ExCyto PCR
- Fast PCR
- Immuno PCR
- Long and accurate PCR
- Multiplex PCR
- Overlap extension PCR
- Real-time PCR systems
- Dyes used in real-time PCR
- Target-specific fluorogenic probes for monitoring real-time PCR
- Applications of real-time PCR
- Limitations of real-time PCR
- Quantitative PCR for accurate low level DNA analysis. 70 qPCR for quantification of mtDNA
- Real-time qPCR for measuring the length of telomeres
- Guidelines for real-time qPCR
- Future applications of real-time qPCR
- Commercially available real-time PCR systems
- Life Technologies’ Real-Time PCR systems
- LightCycler PCR system
- LightUp probes based on real-time PCR
- PlexPCR based on PlexZyme technology
- READ™ real-time PCR method
- StellARray™ technology
- Reverse hybridization PCR assays
- Reverse transcriptase (RT)-PCR
- Standardized reverse transcriptase PCR
- Single cell PCR
- LATE-PCR
- COLD-PCR
- AmpliGrid-System
- Solar thermal PCR system monitored by Smartphone
- Ultrafast photonic PCR
- DNA melt analysis
- High-resolution DNA melt analysis for genotyping
- PCR device for DNA melt analysis in space
- Monitoring of gene amplification in molecular diagnostics
- Non-PCR nucleic acid amplification methods
- DNA probes with conjugated minor groove binder
- DNAble
- Dynamic Flux Amplification
- Isothermal nucleic acid amplifications
- Isothermal reaction for amplification of oligonucleotides
- Isothermal and chimeric primer-initiated amplification of nucleic acids
- Loop-mediated amplification
- Single Primer Isothermal Amplification
- Strand Invasion Based Amplification
- Linked Linear Amplification
- Multiplex Ligation-Dependent Probe Amplification
- Rapid analysis of gene expression
- Recombinase polymerase amplification
- Rolling circle amplification technology
- Gene-based diagnostics through RCAT
- RCAT-immunodiagnostics
- RCAT-pharmacogenomics
- Circle-to-circle amplification
- Ramification amplification method
- Transcription mediated amplification
- WAVE nucleic acid fragment analysis system
- Technologies for signal amplification
- 3 DNA dendrimer signal amplification
- Hybridization signal amplification method
- Signal mediated amplification of RNA technology
- Invader assays
- Hybrid Capture technology
- Branched DNA test
- Tyramide signal amplification
- Non-enzymatic signal amplification technologies
- Non-PCR methods for molecular diagnosis
- Direct molecular analysis without amplification
- Trilogy™ Platform
- Direct detection of dsDNA
- Multiplex assays
- Fluorescent in situ hybridization
- FISH technique
- Applications of FISH
- Modifications of FISH
- Direct visual in situ hybridization
- Direct labeled Satellite FISH probes
- Comparative genomic hybridization
- Primed in situ labeling
- Interphase FISH
- FISH with telomere-specific probes
- Multicolor FISH
- Simultaneous Ultrasensitive Subpopulation staining/Hybridization In situ
- Automation of FISH
- Companies involved in FISH diagnostics
- RNA diagnostics
- RNA isolation from tissue samples
- Commercially available tests for mRNA detection and quantitation
- Branched-chain DNA assay for measurement of RNA
- Cycling probe technology
- Invader RNA assays
- Linear RNA amplification
- Non-isotopic RNase cleavage assay
- Nucleic acid sequence-based amplification
- Q Beta replicase system
- RNAScope
- RNA expression profiling
- Visualization of mRNA expression in vivo
- Solid Phase Transcription Chain Reaction
- Transcriptome analysis
- MicroRNA diagnostics
- Microarray vs quantitative PCR for measuring miRNAs
- Microarrays for analysis of miRNA gene expression
- miR-TRAP to identify miRNA targets in vivo
- Modification of in situ hybridization for detection of miRNAs
- Nuclease Protection Assay to measure miRNA expression
- Real-time PCR for expression profiling of miRNAs
- Use of LNA to explore miRNA
- Whole genome amplification
- Companies that provide technologies for whole genome amplification
- QIAGEN’s Repli-G system
- GenomePlex Whole Genome Amplification
- DNA sequencing
- Applications of next generation sequencing in molecular diagnostics
- Companies developing sequencing for molecular diagnostics
- Molecular diagnostics and sequencing in space
- Genome-wide approach for chromatin mapping
- Mitochondrial sequencing
- Identification of unknown DNA sequences
- Mitochondrial exome sequencing
- Optical mapping
- Gene expression analysis
- Gene expression profiling on whole blood samples
- Gene expression patterns of white blood cells
- Gene expression profiling based on alternative RNA splicing
- MAUI (MicroArray User Interface) hybridization
- Monitoring in vivo gene expression by molecular imaging
- Serial analysis of gene expression (SAGE)
- Single-cell gene expression analysis
- T cell receptor expression analysis
- Tangerine™ expression profiling
- Whole genome expression array
- Ziplex™ system
- Companies involved in gene expression analysis
- Peptide nucleic acid technology
- Use of PNA with fluorescence in situ hybridization
- PNA and PCR
- Use of PNA with biosensors
- PNA-based PD-loop technology
- PNA-DNA hybrid quadruplexes
- Companies involved in PNA diagnostics
- Locked nucleic acids
- Zip Nucleic Acids
- Electrochemical detection of DNA
- Mediated nucleic acid oxidation
- Detection of hybridized nucleic acid with cyclic voltametry
- Electrochemical detection based on Toshiba’s CMOS technology
- Electrochemical detection of DNA for POC
- Concluding remarks on electrochemical DNA detection
- Bead-based assay platforms
- Amplification Refractory Mutation System
- Nucleic acid lateral flow molecular diagnostics
- Omics-based tests
3. Biochips, Biosensors, and Nanobiotechnology
- Introduction to biochip technology
- Applications of biochips in diagnostics
- GeneChip
- GeneChip Human Genome Arrays
- AmpliChip CYP
- Electronic detection of nucleic acids on microarrays
- Microchip capillary electrophoresis
- Strand displacement amplification on a biochip
- Rolling circle amplification on microarrays
- LiquiChip-RCAT
- Fast PCR biochip
- Multiplex microarray-enhanced PCR for DNA analysis
- Multiplexed Molecular Profiling
- Universal DNA microarray combining PCR and ligase detection reaction
- Genomewide association scans
- Whole genome chips/microarrays
- Transposon insertion site profiling chip
- Standardizing the microarrays
- Companies involved in developing biochip technology for diagnostics
- Future of biochip technology for molecular diagnostics
- Microfluidic chips
- Fish-on-chip
- Lab-on-a-chip
- LabCD
- Micronics' microfluidic technology
- Microfluidic chips/arrays using PCR
- Microfluidic automated DNA analysis using PCR
- Digital PCR Array
- Digital PCR on a SlipChip
- Microfluidic chips integrated with RCAT
- Microfluidic chips integrated with PET
- Companies developing microfluidic technologies
- Biosensor technologies
- Classification of biosensor technologies
- DNA-based biosensors
- DNA hybridization biosensor chips
- PCR-free DNA biosensors
- DNA based biosensor to detects metallic ions
- Genetically engineered B lymphocytes
- Biosensors immunoassays
- PNA (peptide nucleic acid)-based biosensors
- Protein-based biosensors
- Antibody biosensors
- Cell-based biosensors (cytosensors)
- Multicell biosensors
- Microbial biosensors
- Optical biosensors
- Surface plasmon resonance technology
- Label-free optical biosensor
- Electrochemical sensors
- Enzyme electrodes for biosensing
- Conductometric sensors
- Electrochemical genosensors
- Electrochemical nanobiosensor
- Electrochemical microRNA biosensor
- Phototransistor biochip biosensor
- Ribozyme-based sensors
- RiboReporters
- Wearable biosensors
- Concluding remarks and future of biosensor technology
- Companies developing biosensors for molecular diagnostics
- Molecular labels and detection
- Detection technologies for molecular labels
- Fluorescence and chemiluminescence
- Fluorescence technologies for label detection
- Companies with fluorescence and chemiluminescence products
- Molecular beacons
- The Green fluorescent protein
- Multiophoton detection radioimmunoassay
- Multi-pixel photon counter
- Enzyme labels and detection by fluorescence
- Phase-sensitive flow cytometry
- Microtransponder-based DNA diagnostics
- Laboratory Multiple Analyte Profile
- Multiple labels
- Protein-DNA chimeras for detection of small numbers of molecules
- Single molecule detection
- Atomic force microscopy
- Capillary electrophoresis
- Confocal laser scanning
- Time domain optical imaging technology
- nCounter Analysis System
- Spectrally resolved fluorescence lifetime imaging microscopy
- Molecular imaging
- Technologies for molecular imaging
- Positron emission tomography
- Magnetic resonance imaging
- Optoacoustic imaging
- Computer tomography
- Hyperpolarized diazirines for in vivo biomolecular imaging
- Basic research in molecular imaging
- Devices for molecular imaging
- Molecular imaging in clinical practice
- Companies involved in molecular imaging
- Nanobiotechnology for molecular diagnostics
- Cantilever arrays
- Diagnostics based on nanopore technology
- DNA nanomachines for molecular diagnostics
- Exosome-based molecular diagnostics
- Fullerene photodetectors for chemiluminescence detection on microfluidic chip
- Gold nanoparticles
- Immunoliposome-PCR
- Magnetic nanoparticles
- Nanotechnology on a chip
- NanoChip® Electronic Microarray
- Nanobarcodes technology for molecular diagnostics
- Nanosensors
- Detection of cocaine molecules by nanoparticle-labeled aptasensors
- Nanosensors for glucose monitoring
- PEBBLE nanosensors
- Quartz nanobalance biosensor
- DNA nanoswitch-linked immunosorbent assay
- Quantum dot technology
- Qdot nanobarcode for multiplexed gene expression profiling
- Resonance Light Scattering technology
- Role of nanobiotechnology in improving molecular diagnostics
- Companies involved in nanomolecular diagnostics
- Concluding remarks about nanodiagnostics
- Future of nanodiagnostics
4. Proteomic Technologies for Molecular Diagnostics
- Introduction
- Proteomic technologies
- Biomarkers of disease
- Proteomic tools for biomarkers
- Search for biomarkers in body fluids
- Captamers with proximity extension assay for proteins
- Cyclical amplification of proteins
- Detection of misfolded proteins by ELISA with exponential signal amplification
- Detection of proteins by Western blot
- Diagnostics based on designed repeat proteins
- Differential Peptide Display
- Light-switching excimer probes
- MALDI-TOF MS
- Molecular beacon aptamer
- Molecular beacon assay
- Proteomic patterns
- Real-time PCR for protein quantification
- Protein biochip technologies
- ProteinChip
- LabChip for protein analysis
- TRINECTIN proteome chip
- Protein chips for antigen-antibody interactions molecular diagnostics
- Microfluidic devices for proteomics-based diagnostics
- Nanotechnology-based protein biochips/microarrays
- Nanoparticle protein chip
- Protein nanobiochip
- New developments in protein chips/microarrays
- Antibody microarrays
- Aptamer-based protein biochip
- Multiplexed Protein Profiling on Microarrays
- Proteomic pattern analysis
- Single molecule array
- Viral protein chip
- Commercial development of protein chips for molecular diagnostics
- Proteome Identification Kit
- Laser capture microdissection (LCM)
- LCM technology
- Applications of LCM in molecular diagnostics
- Proteomic diagnosis of CNS disorders
- Cerebrospinal fluids tests based on proteomics
- Urine tests for CNS disorders based on proteins in urine
- Diagnosis of CNS disorders by examination of proteins in the blood
- Diagnosis of CNS disorders by examination of proteins in tears
- Role of proteomics in the diagnosis of Alzheimer's disease
- Role of proteomics in the diagnosis of Creutzfeldt-Jakob disease
- Future of use of proteomics for diagnosis of CNS disorders
- Concluding remarks on the use of proteomics in diagnostics
5. Molecular Diagnosis of Genetic Disorders
- Introduction
- Cytogenetics
- FISH with probes to the telomeres
- Single copy FISH probes
- Comparative genomic hybridization
- Use of biochips in genetic disorders
- Representational oligonucleotide microarray analysis
- Diagnosis of genomic rearrangements by multiplex PCR
- Quantitative fluorescent PCR
- Mutation detection technologies
- PCR-based methods for mutation detection
- Cleavase Fragment Length Polymorphism
- Direct dideoxy DNA sequencing
- Digital Genetic Analysis (DGA)
- Fluorescence-based directed termination PCR
- Fluorescence melting curve analysis for multiplex mutation detection
- Heteroduplex analysis
- Restriction fragment length polymorphism
- Single-stranded conformation polymorphism (SSCP) analysis
- TaqMan real-time PCR
- Non-PCR methods for mutation detection
- Arrayed primer extension
- BEAMing (beads, emulsion, amplification, and magnetics)
- ELISA-protein truncation test
- Enzymatic mutation detection
- Specific anchor nucleotide incorporation
- Conversion analysis for mutation detection
- Biochip technologies for mutation detection
- Combination of FISH and gene chips
- Haplotype Specific Extraction
- Use of biosensors for detection of mutations
- Technologies for SNP analysis
- Acoustic detection of DNA conformation in genetic assays combined with PCR
- DNA sequencing
- Electrochemical DNA probes
- Use of NanoChip for detection of SNPs
- Laboratory Multiple Analyte Profile
- Pathway enrichment and network analysis of GWAS
- PCR-CTPP (confronting two-pair primers)
- PCR using one primer amplification of PCR-CTPP products
- Peptide nucleic acid probes for SNP detection
- Pyrosequencing
- Reversed enzyme activity DNA interrogation test
- Single base extension-tag array
- Smart amplification process version 2
- SNP genotyping on a genome-wide amplified DOP-PCR template
- SNP genotyping with gold nanoparticle probes
- UCAN method (Takara Biomedical)
- Zinc finger proteins
- Biochip and microarray-based detection of SNPs
- SNP genotyping by MassARRAY
- Electronic dot blot assay
- Biochip combining BeadArray and ZipCode technologies
- SNP-IT primer-extension technology
- SNaPshot® Multiplex System for SNP genotyping
- Affymetrix SNP genotyping array
- Concluding remarks on SNP genotyping
- Limitations of SNP in genetic testing
- Haplotyping versus SNP genotyping
- Nanofluidics technology for high throughput SNP genotyping
- Companies involved in developing technologies/products for SNP analysis
- Role of copy number variations in genetic diagnostic testing
- CNVs in various diseases
- CNVs in genetic epilepsy syndromes
- CNVs associated with schizophrenia
- Methods for determination of CNVs
- Digital array for CNV detection
- Wellcome Trust Case Control Consortium CNV typing array
- CNVer algorithm for CNV detection
- CNVnator for discovery of CNVs and genotyping
- Study of rare variants in pinpointing disease-causing genes
- Chromothripsis and congenital abnormalities
- Role of reanalysis of genomic sequence data in genetic diagnosis
- Role of whole genome sequencing in screening of newborns
- Prenatal DNA diagnosis
- Invasive prenatal diagnostic procedures
- Amniocentesis
- Chorionic villus sampling
- Molecular methods for prenatal diagnosis
- aCGH for prenatal diagnosis
- BAC HD Scan test
- FISH for prenatal diagnosis
- PCR for prenatal diagnosis
- In vivo gene expression analysis of the living human fetus
- Non-invasive prenatal molecular diagnostic procedures
- Fetal cells separation from maternal blood for genetic diagnosis
- Digital relative mutation dosage in maternal plasma
- Prenatal testing based on transrenal DNA from urine
- Reflex DNA screening protocol
- Tests for preterm birth
- Tests on fetal DNA in maternal blood
- Sequencing-based methods for prenatal diagnosis from maternal DNA
- cfDNA testing vs routine screening in first trimester of pregnancy
- Noninvasive WGS of the fetus
- Directed DNA analysis of maternal blood
- Applications of prenatal diagnosis
- Antenatal screening for Down's syndrome
- Diagnosis of congenital infections
- Diagnosis of eclampsia
- Identification of cancers in pregnant women during NIPT
- Preimplantation genetic diagnosis
- Technologies for preimplantation genetic diagnosis
- PCR for preimplantation genetic diagnosis
- FISH for preimplantation genetic diagnosis
- Microarrays for preimplantation genetic diagnosis
- Whole genome sequencing for PGD
- Conditions detected by preimplantation genetic diagnosis
- The future of preimplantation genetic diagnosis
- Companies involved in prenatal/preimplantation diagnosis
- Cystic fibrosis
- Detection of CFTR gene mutations
- CFTR technologies of various companies
- Asuragen's bead array test
- Ambry CF Test
- Biochip for CF diagnosis
- CF Plus Tag-It Cystic Fibrosis Kit
- HerediT™ (SEQUENOM) CF carrier screening test
- Identification of CF variants by PCR/Oligonucleotide Ligation Assay
- LabCorp's CF gene sequencing
- MiSeqDx sequencing-based CF assays
- Serum proteomic signature for CF using antibody microarrays
- Guidelines for genetic screening for CF
- Congenital adrenal hyperplasia
- Primary immunodeficiencies
- Hematological disorders
- Hemoglobinopathies
- Sickle cell anemia
- Thalassemia
- Paroxysmal nocturnal hemoglobinuria
- Hemophilia
- Hereditary hemochromatosis
- Polycystic kidney disease
- Hereditary metabolic disorders
- Lesch-Nyhan Syndrome
- Gaucher’s Disease
- Acute Intermittent Porphyria
- Phenylketonuria
- Hereditary periodic fever
- Achondroplasia
- Molecular diagnosis of eye diseases
- Molecular diagnosis of retinitis pigmentosa
- Genetic screening for glaucoma
- Role of molecular diagnostics in rheumatoid arthritis
- Molecular diagnosis of neurogenetic disorders
- Alzheimer's disease
- Autism spectrum disorders
- CNVs associated with autism
- Charcot-Marie Tooth disease
- Down syndrome
- Duchenne and Becker muscular dystrophy
- eNOS gene polymorphisms as predictor of cerebral aneurysm rupture
- Fragile X syndrome
- Huntington disease
- Hereditary neuropathy with liability to pressure palsies
- Mitochondrial disorders affecting the nervous system
- Parkinson’s disease
- Pompe’s disease
- Spinal muscular atrophy
- Triple repeat disorders
- Genetic testing for disease predisposition
- Direct-to-consumer genetic tests
- Genetic diagnosis in patients with previously undiagnosed disease
6. Molecular diagnosis of cardiovascular disorders
- Introduction
- Coronary heart disease
- Genomics of coronary heart disease
- Diagnosis of coronary artery disease based on gene expression
- Cardiomyopathy
- Hypertrophic cardiomyopathy
- Idiopathic dilated cardiomyopathy
- Cardiac arrhythmias
- Genetic tests for cardiac arrhythmias
- Long Q-T syndrome
- Familial atrial fibrillation
- Idiopathic ventricular fibrillation
- Congestive heart failure
- Hypertension
- Disturbances of blood lipids
- Familial dyslipoproteinemias
- Hypercholesterolemia
- Thrombotic disorders
- Factor V Leiden mutation
- Pulmonary embolism
- Hereditary thrombophilia
- Molecular diagnostics for monitoring heart transplant rejection
- AlloMap® molecular expression testing
- Commercial molecular diagnostics for cardiovascular disorders
7. Molecular Diagnosis of Infections
- Introduction
- Molecular techniques for the diagnosis of infections
- Antibody-enhanced microplate hybridization assays
- Bacteriophage-based methods for detection of bacteria
- Biochips/microarrays for detection of microorganisms
- Lawrence Livermore Microbial Detection Array
- Biosensors for detection of microorganisms
- Ibis T5000™ Biosensor System
- Molecular Mirroring Technology
- DNA enzyme immunoassay
- DNA biochip/microarray in diagnosis of infections
- DNA-based typing methods
- Restriction fragment length polymorphism analysis
- Ribotyping
- Random amplified polymorphic DNA
- Combinatorial DNA melting assay
- Electrochemical detection of pathogens
- Field Activated Sample Treatment (FAST)
- FISH for detection of infections
- hemoFISH assay
- Helicase-dependent isothermal amplification for rapid detection of pathogens
- High resolution melt analysis for diagnosis of infections
- Immunomagnetic cell capture
- Ligase chain reaction
- MRI for diagnosis of infections
- Multiplex PCR for detection of infections
- Metagenomic pyrosequencing
- Dual priming oligonucleotide for multiplex PCR
- Multiplex amplified nominal tandem repeat analysis
- Nanopore-based diagnosis of infections
- NASBA for detection of microorganisms
- Nucleic acid probes
- Neutrophil CD11b expression as a diagnostic marker
- Optical Mapping
- PCR electrospray ionization mass spectrometry
- PNA-FISH for diagnosis of infections
- Proteomic technologies for diagnosis of infections
- Mass spectrometry for microbial identification
- QuantiFERON® technology for pre-molecular diagnosis of infections
- Quantitative reverse-transcription PCR for bacterial diagnostics
- Rapid electrochemical diagnosis of infections
- Rupture event scanning
- Real-time single-molecule imaging of virus particles
- Single-strand conformational polymorphism
- SmartGene platform for identifying pathogens based on genetic sequences
- Tessera array technology
- Tests for sepsis
- LightCycler® SeptiFast Test
- NanoDx™
- Next-generation sequencing assay to detect cell-free microbial DNA
- SeptiCyte Triage assay
- SepsiTest™
- VYOO® Sepsis Test
- Unyvero Solution
- Applications, advantages and limitations of molecular diagnostics
- Molecular diagnostics versus other microbial detection technologies
- Advantages of nucleic acid-based diagnostics in infections
- Drawbacks of nucleic acid-based diagnostics in infections
- Nanotechnology for detection of infectious agents
- Bacterial infections
- Mycobacterium tuberculosis
- Conventional diagnosis of tuberculosis
- Combined tuberculin skin testing and ELISpotPLUS assay
- Microscopic Observation Drug Susceptible Assay for tuberculosis
- Molecular diagnostics for tuberculosis
- Diagnosis of TB in a POC setting
- Diagnosis of drug-resistant MTB infection
- Gene expression blood test for detecting TB
- GeneXpert MTB/RIF (eXpert) automated molecular test for MTB
- QuantiFERON-TB Gold test
- Transcriptional signatures in active vs asymptomatic tuberculosis
- Diagnosis of other mycobacteria
- Leprosy and M. leprae
- Bacteria associated with bacterial vaginosis
- Chlamydial infections
- Neisseria gonorrhoeae
- Trichomonas vaginalis
- Streptococcal infections
- Group B Streptococci
- Group A Streptococcus and Streptococcus dysgalactiae
- Pseudomonas aeruginosa
- Helicobacter pylori
- Vibrio Cholerae
- Lyme disease
- Mycoplasmas
- Fungal infections
- PCR-based tests for fungal infections
- DNA barcode marker for fungi
- DNA sequencing for fungal infections
- MALDI-TOF MS for diagnosis of fungal infections
- Aspergillus
- Candida species
- Viral infections
- Carbon nanotubes-based detection of viruses
- Sensitive metagenomic sequencing for detection of pathogenic human viruses
- Simultaneous testing of multiple viruses by VirScan
- FDA-approved molecular diagnostics for viral infections
- HIV/AIDS
- Diagnosis of HIV
- Detection of HIV provirus
- Global Surveillance of HIV-1 genetic variations
- Genotyping for drug-resistance in HIV
- Neonatal screening of infants of HIV-positive mothers
- Phenotyping as predictor of drug susceptibility/resistance in HIV
- POC testing for HIV
- PCR for resolution of indeterminate Western blot
- Screening of cadaveric tissue donors
- Tests used for quantification of HIV
- Conclusions about HIV diagnostics
- Hepatitis viruses
- Hepatitis A virus
- Hepatitis B virus
- Hepatitis C virus
- Detection and quantification of HCV RNA
- Quantification of HCV RNA levels as a guide to antiviral therapy
- Electrochemical DNA chip for diagnosis of HCV
- HCV Genotyping as a guide to therapy
- Hepatitis E
- Enteroviruses
- Adenoviruses
- Rhinoviruses
- Herpes viruses
- Herpes simplex virus
- Genital and neonatal herpes simplex
- Human cytomegalovirus infections
- Epstein-Barr virus
- Human papilloma virus
- Molecular diagnostics for HPV
- Detection of encephalitis viruses
- West Nile and St. Louis encephalitis
- Venezuelan equine encephalitis virus
- Detection of noroviruses
- Detection of dengue virus
- Detection of Ebola virus
- Detection of Zika virus
- Protozoal infections
- Amebiasis
- Cryptosporidium parvum
- Leishmaniasis
- Malaria
- Neurocysticercosis
- Pneumocystis carinii
- Toxoplasmosis
- Infections of various systems
- CNS infections
- Molecular diagnosis in bacterial meningitis
- Molecular diagnosis in herpes simplex encephalitis
- Diagnosis of transmissible spongiform encephalopathies
- Molecular diagnosis of respiratory viruses
- Avian influenza H7N9
- H1N1 influenza
- Influenza viruses
- Avian influenza H5N1
- Coronaviruses
- Coronavirus China
- Nucleic acid-based testing for SARS-CoV-
- Detection of variants of SARS-CoV-2
- COVID-19 diagnostic pipeline
- Serological assay for detection of SARS-CoV-2 antibodies
- Progress of EUA of coronavirus diagnostics
- POC diagnostics for COVID-19
- Tests for SARS-CoV-2 variants
- FDA’s role in molecular diagnostic testing for COVID-
- Reassessment of molecular diagnostics for COVID-
- Gastrointestinal infections
- Periodontal infections
- Diagnosis of urinary infections by a biosensor
- Role of molecular diagnosis in sexually transmitted infections
- Role of molecular diagnostics in septicemia
- Limitations and needs of diagnostics for infections
- Cell-based methods for identifying pathogenic microorganisms
- Cell-based virus assays
- Cell-based detection of host response to infection
- Role of molecular diagnostics in hospital acquired infections
- Molecular diagnostics for detection of drug resistance in infections
- Detection of hospital-acquired bacterial infections
- Detection of methicillin-resistant S. aureus
- Whole-genome sequencing for investigation of MRSA outbreaks
- Detection of carbapenemase-producing Gram-negative bacteria
- Detection of vancomycin-resistant enterococci
- Detection of hospital-acquired C. difficile
- Integrated device for rapid detection of organisms associated HAI
- Bacterial genome sequencing in antimicrobial resistance
- Detection of hospital-acquired viral infections
- Molecular diagnosis of BK virus
- Diagnosis of hospital-acquired rotavirus gastroenteritis
- Molecular diagnostics and the microbiome
- Human Microbiome Project
- Application of metagenomics for study of the microbiome
- MicroBiome Analysis Center
- Concluding remarks and future of diagnosis of infections
- Rapid point-of-care diagnosis of infections
- Diagnosis of viruses using protein fingerprinting
- QIAplex PCR multiplex technology
- Role of PCR vs sequencing for diagnosis of infections
- Companies involved in molecular diagnosis of infectious diseases
8. Molecular Diagnosis of Cancer
- Introduction
- Cancer genomics
- Cancer genes
- Oncogenes
- Tumor Suppressor Genes
- BRCA mutations413 p53 . 414 p
- CNVs in cancer
- Allele-specific copy number analysis of tumors
- Viruses and cancer
- Detecting viral agents in cancer
- Conventional cancer diagnosis
- Molecular techniques for cancer diagnosis
- Exosome-based molecular diagnosis of cancer
- Expression profiling of tumor cells sorted by flow cytometry
- MicroRNA expression profiling for cancer diagnostics
- Genome analysis at the molecular level
- Mutation detection by sequencing
- Quality control of NGS in oncology
- Biomarkers in cancer
- Circulating nucleic acids as potential biomarkers of cancer
- Circulating nucleosomes in serum of cancer patients
- Detection of DNA methylation
- eTag assay system for cancer biomarkers
- HAAH as a biomarker for cancer
- LigAmp for detection of gene mutations in cancer
- Methylscape biomarker of cancer
- Mitochondrial DNA as a cancer biomarker
- NIPT for detecting biomarkers of gynecological cancers
- Oncoproteins as biomarkers for cancer
- Sequencing-based approaches for detection of cancer biomarkers
- Molecular fingerprinting of cancer
- Fluorescent in situ hybridization
- Genetic analysis of cancer
- Comparative genomic hybridization in cancer diagnostics
- Loss of heterozygosity
- Digital karyotyping
- Gene expression profiles predict chromosomal instability in tumors
- PCR Techniques
- Cold-PCR
- Real-time qPCR for diagnosis of cancer
- Real-time PCR with myT™ Primer reagents
- Antibody-based diagnosis of cancer
- Monoclonal antibodies for diagnosis of cancer
- Recombinant antibodies as a novel approach to cancer diagnosis
- Combined immunological and nucleic acid tests
- Combination of MAbs and RT-PCR
- Immunobead RT-PCR
- Assays for determining susceptibility to cancer
- Gene expression profiling in cancer
- Microarrays for gene expression profiling in cancer
- Serial analysis of gene expression (SAGE)
- Suppression subtractive hybridization
- Cancer tests based on gene expression profiling
- Measurement of telomerase activity
- Liquid biopsy for detection of circulating tumor cells and cfDNA in body fluids
- ApoStream for POC detection of CTCs
- BEAMing technology for quantification of circulating tumor DNA
- CEE (cell enrichment and extraction) technology
- CellSearch
- CellTracks® AutoPrep® System
- CTCscope system for detection of CTCs
- CTChip™
- CTC sorting by acoustic waves
- Detection of circulating tumor DNA
- Droplet digital PCR for examination of cell free plasma DNA in cancer
- DNA nanospheres for isolation of CTCs
- Fiber-optic array scanning technology
- Herringbone-chip for detection of CTCs
- IsoFlux System
- Lab-on-chip for the isolation and detection of CTCs
- MagSweeper
- Nano-Velcro to capture CTCs for diagnosis of cancer
- NanoFlares for detection of CTCs
- Companies developing tests for detection of CTCs
- Future of detection of cancer cells in blood
- Epithelial aggregate separation and isolation
- Proteomic technologies for the molecular diagnosis of cancer
- Proteomic technologies for tumor biomarkers
- Affibodies as contrast agents for imaging in cancer
- Aptamer-based technology for protein signatures of cancer cells
- Aptamer probes for in vivo diagnosis of cancer
- Aptamers for combined diagnosis and therapeutics of cancer
- Automated image analysis of nuclear protein distribution
- Laser capture microdissection in oncology
- Layered expression scanning
- Membrane-type serine protease-
- Survivin and molecular diagnosis of cancer
- Biochip/microarrays for cancer diagnosis
- Role of DNA microarrays in gene expression profiling
- Biochip detection of FHIT gene
- Multiplexed single-cell analysis of FFPE cancer tissue samples
- Nanobiotechnology for early detection of cancer
- Detection of nanoparticle self assembly in tumors by MRI
- Differentiation between normal and cancer cells by nanosensors
- Magnetic nanoparticle probes
- Quantum dots for early detection of cancer
- Molecular imaging of cancer
- In vivo imaging of single cancer cells
- In vivo molecular imaging of cancer
- In vivo tumor illumination by adenoviral-GFP
- PET for in vivo molecular diagnosis of cancer
- Radiolabeled peptide-based targeting probes for cancer imaging
- Xenon-enhanced MRI
- Detection of micrometastases
- Detection of cancer stem cells
- Detection of origin in cancers of unknown primary
- Molecular diagnosis of cancers of various organs
- Brain tumors
- Molecular diagnostic methods for brain tumors
- Glioblastoma
- Circulating microvesicles as biomarkers of glioblastoma
- Circulating tumor cells in glioblastoma
- Combination of neuroimaging and microarray analysis in glioblastoma
- Medulloblastoma
- Multigene predictor of outcome in glioblastoma
- Oligodendroglioma
- Advantages and limitations of molecular diagnosis of brain tumors
- Breast cancer
- Breast cancer genes
- Circulating tumor cells and nucleic acid biomarkers of breast cancer
- Genomic profiles of breast cancer
- Imaging biopsy specimens as alternative to histological examination
- Microchimerism and breast cancer
- Molecular diagnostic tests for breast cancer
- Molecular diagnostics for management of breast cancer
- Mouse ESC-based assays to evaluate mutations in BRCA
- One step mucleic acid amplification assay for breast sentinel nodes
- Prognostic testing for of breast cancer
- Prediction of recurrence in breast cancer for personalizing therapy
- Cervical cancer
- Colorectal cancer
- ColoVantage CRC test
- Detection of familial adenomatous polyposis coli
- Detection of CRC at precancerous state
- Detection of circulating tumor cells in CRC
- Diagnosis of hereditary nonpolyposis CRC
- Diagnosis of CRC from DNA in stools
- Droplet Digital™ PCR for detection of KRAS Mutations
- Early diagnosis of CRC from blood samples
- Guanylyl cyclase C-based tests for CRC
- Multitarget stool DNA testing for CRC screening
- Gastric cancer
- Head and neck cancer
- Nanobiochip sensor technique for analysis of oral cancer biomarkers
- ProteinChip for diagnosis of head and neck cancer
- Hematological malignancies
- Chromosome translocations
- Flow cytometry in diagnosis of leukemia
- Gene chip technology
- Hairy-cell leukemia
- Laboratory assessment of leukemia
- Molecular probes
- Minimal residual disease
- Molecular diagnosis in myelodysplastic syndromes
- Screening of gene mutations in chronic myeloproliferative diseases
- Lung cancer
- Biomarkers of immune response in lung cancer
- Early diagnosis of lung cancer
- Gene abnormalities in lung cancer
- Liquid biopsy based on CTCs in lung cancer
- Methylation profiling of lung cancer
- Molecular subtyping of lung cancer
- Prediction of efficacy of chemotherapy
- Melanoma
- Ovarian cancer
- Mutation of genes
- Relevance of genetic testing to management of ovarian cancer
- Serum biomarkers for early detection of ovarian cancer
- Biomarkers of ovarian cancer
- Concluding remarks on testing for ovarian cancer
- Pancreatic cancer
- Proteomic techniques for diagnosis of pancreatic cancer
- Detection of KRAS mutations in pancreatic cancer
- Prostate cancer
- Identification of genetic risks for prostate cancer
- Gene expression analysis of prostate cancer
- Huntingtin Interacting Protein
- Integrative genomic and proteomic profiling of prostate cancer
- LCM for diagnosis of prostate cancer
- Liquid biopsy for prostate cancer patients
- Mitomic™ prostate test
- Nanotechnology for early detection of recurrence of prostate cancer
- PCA3 gene detection in urine
- PCR assay for assessing silencing of protein cadherin 13 gene
- Prolaris test
- Prostate biopsy for detection of prostatic intraepithelial neoplasia
- Prostate Core Mitomic Test™
- Prostat Health Index
- Screening of multiple SNPs for risk of prostate cancer
- Semen testing for prostate cancer biomarkers
- Serum-protein fingerprinting in prostate cancer
- Tissue-based epigenetic test for prostate cancer
- Thyroid cancer
- Afirma gene expression classifier for inconclusive thyroid biopsies
- Gene expression biomarkers of thyroid cancer
- Multiple endocrine neoplasia type 2B as risk factor for thyroid cancer
- miRNA expression profiling in thyroid cancer
- Urinary bladder cancer
- Role of molecular diagnostics in the management of cancer
- Risk assessment and prevention of cancer
- Role of molecular diagnosis in the design of future cancer therapies
- Molecular classification of cancer
- Determination of cancer prognosis
- Prognosis by tumor classification
- Prognosis by cancer gene expression
- Selection of anticancer drugs based on molecular diagnosis
- Integrated genome-wide analysis of cancer for diagnosis and therapy
- Role of molecular diagnostics in personalized therapy for cancer
- Personalized diagnosis of cancer
- Pharmacogenetics and cancer therapy
- Molecular diagnostics as an aid to selection of cancer therapy
- Drug resistance in cancer
- Role of organizations in molecular diagnosis of cancer
- Role of NCI in molecular diagnosis of cancer
- Molecular profiling of cancer
- Cancer Genome Atlas
- Support for future research in molecular diagnosis of cancer
- Role of the International Cancer Genome Consortium
- Future of molecular diagnosis of cancer
- Companies involved in molecular diagnosis of cancer
9. Molecular Diagnostics in Biopharmaceutical Industry & Healthcare
- Introduction
- Molecular diagnostics in biopharmaceutical industry
- Molecular diagnostic technologies and drug discovery
- Molecular diagnostics and pharmacogenetics
- Molecular toxicology
- Gene expression studies for toxicology
- Toxicogenomics
- Toxicoproteomics
- Mitochondrial assays
- MetaChip/Datachip
- Molecular diagnostics and pharmacogenomics
- Molecular diagnostics and therapeutic drug monitoring
- Applications molecular diagnostics in gene therapy
- Use of PCR to study biodistribution of gene therapy vectors
- PCR for verification of the transcription of DNA
- In situ PCR for direct quantification of gene transfer into cells
- Detection of retroviruses by reverse transcriptase (RT)-PCR
- Assessment of safety issues of gene transfer
- Quantitative PCR for monitoring the effectiveness of gene therapy
- Use of FISH for analysis of adeno-associated viral vector integration
- Monitoring of gene expression by green fluorescent protein
- Quality control of protein therapeutics and vaccines
- Detection of microbial contamination in biopharmaceutical manufacturing
- Role of PCR in detecting contamination
- Systems for rapid detection of contaminants
- Contamination of biopharmaceuticals with prions
- DNA tagging for control and tracing of drug distribution channels
- Molecular diagnostics for organ transplantation
- HLA typing
- Sequencing for HLA typing
- Commercial products for transplant molecular diagnostics
- Post-cardiac transplant patient monitoring for rejection
- Application of molecular diagnostics in blood transfusion
- Molecular diagnostics for testing transfusion compatibility
- Transmission of infections in blood transfusion
- Molecular tests for screening of blood supply for viruses
- Commercial molecular diagnostic technologies for blood screening
- Bridge amplification technology
- COBAS AmpliScreen HCV and HIV Assays
- INACTINE
- NucliSens Extractor system
- Pall's enhanced Bacteria Detection System
- PCR combined with algorithm method
- Prions detection in human blood
- PRISM® automated system
- Procleix HIV-1/HCV Assay
- West Nile virus detection in human blood
- Zika virus screening of US blood donors
- Advantages and limitations of molecular diagnostics for blood screening
- Molecular epidemiology
- Molecular epidemiology of genetic diseases
- Role of CNVs in study of genetic epidemiology
- Accumulation of CNVs with aging
- Monogenic versus polygenic disorders
- Critical issues facing genetic epidemiology
- Molecular epidemiology of infectious diseases
- Methods and purposes
- Emerging infections
- Human vs. non-human infections
- Genetics and susceptibility to infectious disease
- Molecular epidemiology of cancer
- Molecular epidemiology of p53 gene mutations
- Molecular epidemiology of link between virus and cancer
- Molecular epidemiology and cancer prevention
- SNPs and molecular epidemiology
- Molecular diagnostics for identification of food-borne pathogens
- Introduction
- Molecular diagnostic methods used in food-borne infections
- Limitations of use of molecular probes in food analysis
- Detection of Listeria-contaminated foods
- Optical biosensor for detection of Listeria
- Real-time PCR for detection of Listeria
- Sequencing for investigation of food-borne Listeria infections
- Detection of Salmonella
- MicroSEQ® Salmonella Detection Kit
- E. Coli detection
- MicroSEQ® E. Coli Detection Kit
- DuPont Bax system
- MLG method for detection of multiple STEC strains
- Detection of rare strains of E. Coli
- Companies with technologies for food pathogen detection
- Transmissible spongiform encephalopathies (TSEs)
- Basis of molecular diagnosis of prion diseases
- Molecular diagnosis of TSEs
- Companies involved in developing molecular diagnostics for TSEs
- Detection of genetically modified food
- Molecular diagnostics for detection of doping in sports
- Screening of synthetic glucocorticosteroids in human urine
- Detection of gene doping
- Role of molecular diagnostics in future healthcare
- Translation of genomic research into genetic testing for healthcare
- Molecular diagnostics and disease management
- Role of genetic biomarkers in disease management
- Role of molecular diagnostics in personalized medicine
- Integrated healthcare
- Screening
- Early diagnosis
- Prevention
- Therapy based on molecular diagnosis
- Monitoring of therapy
- Advantages and limitations of integrated healthcare
- Commercially available systems for integrated healthcare
- Combination of diagnostics and therapeutics
- Companion diagnostics
- Companies involved in companion diagnostics
- Point-of-care diagnosis
- Advantages versus disadvantages of POC diagnosis
- Technologies for point-of-care diagnosis
- Biochips for POC diagnosis
- CRISPR for POC diagnosis
- Mobile detection of infections by microfluidic LAMP and smartphone
- Nanosensors for POC diagnosis
- POC Diagnostic Initiative
- Paper-based POC diagnostic for infectious diseases
- Synthetic biomarker-based POC diagnostic for cancer
- Future of POC testing
- Companies developing POC diagnosis
- The impact of molecular diagnostics on clinical laboratory practice
10. Molecular Diagnostics in Forensic Medicine and Biological Warfare
- Application of molecular diagnostics in forensic medicine
- Technologies
- ABO genotyping
- DNA analysis for identification of ancient or historical specimens
- DNA fingerprinting and short tandem repeats
- DNA processing of forensic samples
- DNA profiles from fingerprints
- Fluorescent detection systems
- Genome wide association studies linking genes to facial features
- Mitochondrial DNA analysis
- Next generation sequencing for forensic diagnosis
- Pressure cycling technology for forensic applications
- Polymorphic Alu insertions
- SNP analysis
- Applications
- Applications in criminology
- Identification of remains of military personnel
- Identification of remains of victims of mass disasters
- Parentage testing
- Gender determination
- Companies developing molecular diagnostics for forensic science
- Molecular detection of biological warfare agents
- Introduction to biological warfare agents
- Role of PCR in the diagnosis of biological warfare agents
- Multiplex PCR microarray assay to detect bioterror pathogens in blood
- Laboratory diagnosis of Anthrax
- Challenges in diagnosis of biological warfare agents
- US government efforts for detection of biological warfare agents
- The US Army Medical Research Institute of Infectious Diseases
- Homeland Security Advance Research Projects Agency
- Handheld Isothermal Silver Standard Sensor
- Hapten mediated display and pairing of rAbs for biothreat assays
- Commercial development of diagnostic devices for biological agents
- Companies developing diagnostic devices for biological agents
- Various devices for testing
- Airborne bacterial spore detection technology
- Analyte 2000 biosensor
- Bead ARray Counter
- Benchtop living cell biosensor
- BioThreat Alert Test Strip
- BioForce NanoArray sensor technology
- Biodefence microarray
- Biosensor based on mass spectrometry of microorganisms's RNA
- Destruction and detection of anthrax by lysin
- Hand-Held Advanced Nucleic Acid Analyzer
- Identification of genetic markers of individual pathogens
- Microbial Identification System based on OptiChip™
- MicroChemLab
- Nanode Array Sensor Microchips
- ProteinChip-based detection of bioterroism agents
- QTL handheld biosensor
- TIGER biosensor
- The PathAlert Detection System
- VereThreat™
- Concluding remarks about biodefense applications of diagnostics
11. References
Tables
Table 1-1: Landmarks in development of molecular technology and its application to diagnosis
Table 1-2: Applications of molecular diagnostics
Table 2-1: Companies with products for nucleic acid isolation
Table 2-2: Applications of real-time PCR
Table 2-3: Some commercially available real-time PCR systems
Table 2-4: A selection of companies with commercially available FISH diagnostics
Table 2-5: Selected companies with RNA diagnostic tests
Table 2-6: Companies involved in whole genome amplification
Table 2-7: Companies involved in application of sequencing in molecular diagnostics
Table 2-8: Comparison of methods of identification of unknown DNA sequences
Table 2-9: Classification of methods of gene expression analysis
Table 2-10: A selection of companies with gene expression technologies
Table 2-11: Companies involved in developing PNA diagnostics
Table 2-12: Companies with bead-based diagnostic assay platforms
Table 2-13: Companies developing nucleic acid lateral flow molecular diagnostics
Table 3-1: Applications of biochip technology in relation to molecular diagnostics
Table 3-2: Companies developing whole genome chips/microarrays
Table 3-3: Companies involved in biochips for molecular diagnostics
Table 3-4: Companies developing microfluidic technologies
Table 3-5: Biosensor technologies with potential applications in molecular diagnostics
Table 3-6: Important applications of biosensors
Table 3-7: Companies involved in application of biosensors in molecular diagnostics
Table 3-8: Selected labels for nucleic acid detection
Table 3-9: Selected companies with fluorescence and chemiluminescence products
Table 3-10: Companies involved in molecular beacon manufacture and research
Table 3-11: Selected companies involved in molecular imaging
Table 3-12: Nanotechnologies with potential applications in molecular diagnostics
Table 3-13: Companies developing nanomolecular diagnostics
Table 4-1: Applications of protein biochips/microarrays
Table 4-2: Companies involved in developing diagnostic applications of protein biochips
Table 4-3: Disease-specific proteins in the cerebrospinal fluid of patients
Table 5-1: Mutation detection technologies
Table 5-2: Technologies for SNP analysis
Table 5-3: A sampling of companies involved in technologies for SNP genotyping
Table 5-4: Application of preimplantation genetic diagnosis in monogenic disorders
Table 5-5: Companies involved in prenatal/preimplantation diagnostics
Table 5-6: CFTR genotyping in cystic fibrosis companies and technologies
Table 5-7: X-linked immunodeficiency disorders
Table 5-8: Available molecular diagnostics for neurogenetic diseases
Table 5-9: Companies offering genetic screening tests directly to consumers
Table 6-1: Genes that cause cardiovascular diseases
Table 6-2: Molecular diagnostics for cardiovascular diseases: commercial development
Table 7-1: Molecular techniques for the diagnosis of infections
Table 7-2: Commercially available molecular diagnostics for sepsis
Table 7-3: FDA-approved molecular diagnostics for various bacterial infections
Table 7-4: Commercially available molecular diagnostics for fungal infections
Table 7-5: FDA-approved molecular diagnostics for viral infections
Table 7-6: Companies with molecular diagnostics for influenza virus H1N
Table 7-7: Companies with molecular diagnostics for avian influenza virus H5N
Table 7-8: COVID-19 diagnostic pipeline
Table 7-9: Commercially available molecular diagnostics for C. difficile
Table 7-10: Companies developing POC tests for the diagnosis of infections
Table 7-11: Selected companies involved in molecular diagnosis of infections
Table 8-1: Estimated new cases of cancer in the US of most involved organs -
Table 8-2: Tumor suppressor genes, their chromosomal location, function, and associated tumors
Table 8-3: Viruses linked to human cancer
Table 8-4: A classification of molecular diagnostic methods in cancer
Table 8-5: Desirable characteristics of biomarkers for cancer
Table 8-6: Approved monoclonal antibodies for cancer diagnosis
Table 8-7: Methods for comparison of gene-expression profiling in tumor specimens
Table 8-8: Companies that have important cancer tests based on gene signatures
Table 8-9: Companies developing technologies for detection of CTCs
Table 8-10: Impact of in vivo molecular imaging of cancer on oncology practice
Table 8-11: Molecular diagnostic tests for breast cancer
Table 8-12: Companies developing cancer molecular diagnostics
Table 9-1: Applications of molecular diagnostics in the biopharmaceutical industry
Table 9-2: Molecular diagnostic technologies for drug discovery
Table 9-3: Molecular diagnostic technologies used for pharmacogenetic studies
Table 9-4: Companies with novel molecular toxicology technologies
Table 9-5: Applications of molecular diagnostics in gene therapy
Table 9-6: Companies involved in transplant molecular diagnostics
Table 9-7: Companies involved in molecular diagnostics of blood transfusions
Table 9-8: Pathogenic bacteria in food and targets for molecular diagnostic probes
Table 9-9: Companies involved in molecular diagnostics for food-borne infections
Table 9-10: Testing for harmful prions in brain tissue from dead cattle
Table 9-11: Companies involved in developing molecular diagnostics for TSEs
Table 9-12: Companies involved in detection of genetically modified food
Table 9-13: Companies involved in companion diagnostics
Table 9-14: Applications of point-of-care diagnosis
Table 9-15: Companies developing point-of-care diagnostic tests
Table 10-1: Forensic and legal applications of molecular diagnostics.
Table 10-2: Molecular technologies used for forensic applications
Table 10-3: Biological and chemical agents used as weapons of mass destruction
Table 10-4: Biological warfare agents that can be identified by PCR methods
Table 10-5: Companies developing devices for detection of biological warfare agents
Figures
Figure 1-1: Extrachromosomal DNA
Figure 1-2: Relation of molecular diagnostics to other technologies
Figure 2-1: PlexZyme technology for PlexPCR
Figure 2-2: Rolling circle amplification technology
Figure 2-3: A schematic view of the Invader operating system
Figure 2-4: Principle of fluorescent in situ hybridization
Figure 2-5: Repli-G system of QIAGEN
Figure 2-6: DNA sequencing process
Figure 2-7: Electrochemical detection of DNA
Figure 2-8: Elements of a Scorpions primer
Figure 3-1: Affymetrix GeneChip technology
Figure 3-2: Basic principle of a biosensor
Figure 3-3: Surface plasmon resonance (SPR) technology
Figure 7-1: Use of DNA chips in diagnosing microbial infections
Figure 7-2: High throughput DNA pyrosequencing for pathogen discovery
Figure 9-1: The mechanism of SHERLOCK for POC diagnosis
Part II: Regulations, Markets & Companies
12. Ethics, Patents and Regulatory issues
- Introduction
- Ethical concerns about genetic diagnosis
- Ethical guidelines for molecular diagnostics
- Ethical aspects of use of WGS for newborn and prenatal screening
- Ethical aspects of direct-to-consumer genetic services
- US public attitudes about genetic testing
- Opinion of European geneticists about DTC genetic testing
- Genetic testing for susceptibility to adult-onset cancer
- Ethics of preimplantation genetic diagnosis
- Preimplantation genetic diagnosis to screen for hereditary diseases
- PGD to test for susceptibiliy to cancer
- PGD and stem cells
- Genetic research on stored tissues
- Informed consent in clinical trials of in vitro devices
- Concluding remarks about ethical issues
- Insurance underwriting and gene tests
- Should genetic information be available to health insurers?
- A need for the re-examination of current views
- Genetic Information Nondiscrimination Act of US
- Impact of the US health care reform bill on genetic testing issues
- Patents for molecular diagnostics
- PCR patents
- Patenting DNA sequences
- US policy on gene patenting relevant to molecular diagnostics
- The impact of disease gene patents on molecular diagnostics
- Licensing problems associated with genetic testing
- BRCA1 and BRCA2 gene patents
- Role of the WHO in genetic testing standards
- NIH's Genetic Testing Registry
- Regulatory issues in the US
- Assay Migration Studies for In Vitro Diagnostic Devices
- Assessment of diagnostic accuracy
- Sensitivity and specificity
- Documentation of diagnostic accuracy
- Discovery of incidental findings on genetic screening
- Evaluation of companion diagnostics/therapeutic for cancer
- FDA regulation of multivariate index assays
- FDA guidance for IVDs to detect pathogens
- FDA guidelines for devices to detect and differentiate HPV
- FDA's Microarray Quality Control
- FDA and point-of-care diagnosis
- Genetic testing of rare disorders
- Guidelines for developing omics-based tests
- Shared responsibility on oversight of omics-based tests
- Guidelines for use of sequencing for molecular diagnosis
- FDA oversight of next generation sequencing
- Quality control of molecular diagnostic laboratory procedures
- Quality assurance of RNA expression profiling
- Quality control of point-of-care tests
- Regulation of IVD by the FDA
- FDA guidance on research use and investigational use only IVDs
- Regulation of in vitro companion diagnostics by the FDA
- Regulation of in vivo diagnostics by the FDA
- Regulation of laboratory developed tests
- Home-brew tests
- Laboratory-developed tests used by Medicare recipients
- Oversight of LDTs by the FDA
- Alternative to FDA LDT guidance
- Regulatory aspects of FISH
- Regulation of genetic testing
- Role of the FDA in genetic testing
- Regulation of direct-to-consumer genetic testing
- Need for regulatory oversight of DTC
- Regulatory issues concerning blood and plasma products
- United States Diagnostics Standards
- Regulation of in vitro diagnostics in the EU
- EU regulations for testing of blood products
- Regulation of genetic testing in EU
- Evaluation of diagnostic laboratory tests in the UK
- Pre-implantation genetic diagnosis in the UK
13. Markets for Molecular Diagnostics
- Introduction
- Methods for study of molecular diagnostic markets
- The overall market for diagnostic technologies
- Markets for in vitro diagnostics
- Molecular diagnostic markets according to technologies
- Marketing strategies according to technologies
- Nucleic acid isolation market
- Market for PCR-based tests
- Markets for PCR instrumentation
- Markets for real-time PCR and qRT-PCR
- PCR market players
- DNA sequencing market
- Cost of NGS
- Cytogenetic market
- Market for FISH technologies
- Biochip/microarray market
- Biosensor market
- Nanobiotechnology for molecular diagnostics
- Markets for gene expression technologies
- Reagents and other disposable laboratory materials
- Market for immunochemistry diagnostic
- Markets for tissue diagnostics
- Molecular diagnostic markets according to therapeutic areas
- Genetic disorders
- Prenatal testing
- Non-invasive prenatal testing
- Cancer
- Potential markets for cancer diagnosis according to type of cancer
- Infectious diseases
- Diagnostics for COVID-19
- Sexually transmitted diseases
- Hospital-acquired infections
- Testing for HIV drug resistance
- Potential markets for avian influenza diagnostics
- Cardiovascular diseases
- Neurological disorders
- Food testing
- Screening of blood for transfusion
- Tissue typing for transplantation
- Molecular diagnostic markets relevant to pharmaceutical industry
- Molecular diagnosis and personalized medicine markets
- Growth of markets relevant to personalized medicine
- Point-of-care market
- Marketing opportunities according to geographic areas
- Unmet needs in molecular diagnostics
- Major market trends
- Markets according to home-brew and FDA-approved tests
- Decentralization of molecular diagnostics
- Direct-to-consumers healthcare testing
- Point-of-care testing
- Development of personalized medicine
- Cost of sequencing the human genome
- Cost of genotyping
- Marketing companion diagnostics for personalized medicine
- Development of low-cost tests
- Simplification of test procedures
- Increasing role of proteomics in clinical diagnostics
- Forensic and legal applications
- Veterinary molecular diagnostics
- Marketing strategies
- Role of alliances in commercialization of molecular diagnostics
- Acquisitions vs collaborations
- Analysis of collaborations in molecular diagnostics
- Licensing of the technologies
- Strategies related to laboratory facilities and technologies
- Strategies relevant to the healthcare system
- Cost-Benefit studies
- Genetic susceptibility testing
- Preventive medicine strategies
- Targeting treatable and common diseases
- Information/education
- Physician education
- Patient education
- European diagnostic information platform
- Regulatory strategies
- Merger of in vitro and in vivo diagnostics
- Integration of diagnostics with therapeutics
- Diagnostic applications in clinical trials
- Prospects for development of new technologies
- Drivers for the development of molecular diagnostics
- Factors slowing the development of molecular diagnostics
- Cost of sequencing the human genome
- Challenges and future prospects for diagnostic applications of sequencing
- US organizations for advancing molecular diagnostic industry
- AdvaMedDx
- European projects for improving molecular diagnostics
- European Consortium for developing new DNA analysis tools
- EU project for improvement of IVD tools procedures
- Genetic knowledge parks in the UK
- Molecular diagnostic opportunities in defense against bioterrorism
- Molecular diagnostics for food safety
- POC diagnostics for the Asian countries
14. Companies involved in molecular diagnostics
- Introduction
- Major players in molecular diagnostics
- Profiles of selected companies
- Collaborations
Tables
Table 13-1: Share of in vitro diagnostics in the global diagnostic market 2020-2030
Table 13-2: Molecular diagnostics markets according to technologies from 2020-2030
Table 13-3: PCR market 2020-2030
Table 13-4: Molecular diagnostics markets according to applications 2020-2030
Table 13-5: Markets in 2020 for tests to screen healthy persons for genetic disorders
Table 13-6: Markets in 2020 for molecular diagnostic screening tests for cancer
Table 13-7: Molecular diagnostic markets for selected cancers 2020-2030
Table 13-8: Markets value in 2020 for molecular diagnostic screening for infections
Table 13-9: Future markets for HAI diagnostics 2020-2030
Table 13-10: Growth of markets relevant to personalized medicine 2020-2030
Table 13-11: Molecular diagnostic markets according to geographical areas 2020-2030
Table 13-12: Molecular diagnostic markets according to home-brew and approved tests
Table 13-13: Marketing strategies for molecular diagnostics
Table 13-14: Acquisitions of molecular diagnostic companies
Table 13-15: Advantages of the integration of diagnostics with therapeutics
Table 14-1: Top ten players in molecular diagnostics
Table 14-2: Collaborations of companies in molecular diagnostics
Figures
Figure 13-1: Unmet needs in applications of molecular diagnostics
Samples
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