Predictive Value of Tests: In screening and diagnostic tests, the probability that a person with a positive test is a true positive (i.e., has the disease), is referred to as the predictive value of a positive test; whereas, the predictive value of a negative test is the probability that the person with a negative test does not have the disease. Predictive value is related to the sensitivity and specificity of the test.Sensitivity and Specificity: Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed)Genomic Instability: An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.ROC Curve: A graphic means for assessing the ability of a screening test to discriminate between healthy and diseased persons; may also be used in other studies, e.g., distinguishing stimuli responses as to a faint stimuli or nonstimuli.Genomics: The systematic study of the complete DNA sequences (GENOME) of organisms.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Reproducibility of Results: The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.Prospective Studies: Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Comparative Genomic Hybridization: A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations.Genomic Library: A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.False Positive Reactions: Positive test results in subjects who do not possess the attribute for which the test is conducted. The labeling of healthy persons as diseased when screening in the detection of disease. (Last, A Dictionary of Epidemiology, 2d ed)Prognosis: A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.Genomic Islands: Distinct units in some bacterial, bacteriophage or plasmid GENOMES that are types of MOBILE GENETIC ELEMENTS. Encoded in them are a variety of fitness conferring genes, such as VIRULENCE FACTORS (in "pathogenicity islands or islets"), ANTIBIOTIC RESISTANCE genes, or genes required for SYMBIOSIS (in "symbiosis islands or islets"). They range in size from 10 - 500 kilobases, and their GC CONTENT and CODON usage differ from the rest of the genome. They typically contain an INTEGRASE gene, although in some cases this gene has been deleted resulting in "anchored genomic islands".Retrospective Studies: Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.False Negative Reactions: Negative test results in subjects who possess the attribute for which the test is conducted. The labeling of diseased persons as healthy when screening in the detection of disease. (Last, A Dictionary of Epidemiology, 2d ed)Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Genomic Imprinting: The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)Biological Markers: Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.Genome, Bacterial: The genetic complement of a BACTERIA as represented in its DNA.Reagent Kits, Diagnostic: Commercially prepared reagent sets, with accessory devices, containing all of the major components and literature necessary to perform one or more designated diagnostic tests or procedures. They may be for laboratory or personal use.Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Nucleic Acid Hybridization: Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)Tomography, X-Ray Computed: Tomography using x-ray transmission and a computer algorithm to reconstruct the image.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Follow-Up Studies: Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.Evaluation Studies as Topic: Studies determining the effectiveness or value of processes, personnel, and equipment, or the material on conducting such studies. For drugs and devices, CLINICAL TRIALS AS TOPIC; DRUG EVALUATION; and DRUG EVALUATION, PRECLINICAL are available.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).Mass Screening: Organized periodic procedures performed on large groups of people for the purpose of detecting disease.Reagent Strips: Narrow pieces of material impregnated or covered with a substance used to produce a chemical reaction. The strips are used in detecting, measuring, producing, etc., other substances. (From Dorland, 28th ed)Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Oligonucleotide Array Sequence Analysis: Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.Gene Expression Profiling: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.Cohort Studies: Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Genetic Variation: Genotypic differences observed among individuals in a population.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.Severity of Illness Index: Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.Treatment Outcome: Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.Biopsy: Removal and pathologic examination of specimens in the form of small pieces of tissue from the living body.Genome, Viral: The complete genetic complement contained in a DNA or RNA molecule in a virus.Gene Dosage: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.Risk Assessment: The qualitative or quantitative estimation of the likelihood of adverse effects that may result from exposure to specified health hazards or from the absence of beneficial influences. (Last, Dictionary of Epidemiology, 1988)Bacteriological Techniques: Techniques used in studying bacteria.Tumor Markers, Biological: Molecular products metabolized and secreted by neoplastic tissue and characterized biochemically in cells or body fluids. They are indicators of tumor stage and grade as well as useful for monitoring responses to treatment and predicting recurrence. Many chemical groups are represented including hormones, antigens, amino and nucleic acids, enzymes, polyamines, and specific cell membrane proteins and lipids.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.In Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Radiopharmaceuticals: Compounds that are used in medicine as sources of radiation for radiotherapy and for diagnostic purposes. They have numerous uses in research and industry. (Martindale, The Extra Pharmacopoeia, 30th ed, p1161)Sequence Homology, Nucleic Acid: The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.Breast Neoplasms: Tumors or cancer of the human BREAST.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Introns: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets.Blotting, Southern: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.Multigene Family: A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)Enzyme-Linked Immunosorbent Assay: An immunoassay utilizing an antibody labeled with an enzyme marker such as horseradish peroxidase. While either the enzyme or the antibody is bound to an immunosorbent substrate, they both retain their biologic activity; the change in enzyme activity as a result of the enzyme-antibody-antigen reaction is proportional to the concentration of the antigen and can be measured spectrophotometrically or with the naked eye. Many variations of the method have been developed.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Infant, Newborn: An infant during the first month after birth.Restriction Mapping: Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Fluorodeoxyglucose F18: The compound is given by intravenous injection to do POSITRON-EMISSION TOMOGRAPHY for the assessment of cerebral and myocardial glucose metabolism in various physiological or pathological states including stroke and myocardial ischemia. It is also employed for the detection of malignant tumors including those of the brain, liver, and thyroid gland. (From Martindale, The Extra Pharmacopoeia, 30th ed, p1162)Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Chromosomes, Artificial, Bacterial: DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.Diagnostic Errors: Incorrect diagnoses after clinical examination or technical diagnostic procedures.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Ultrasonography, Doppler, Color: Ultrasonography applying the Doppler effect, with the superposition of flow information as colors on a gray scale in a real-time image. This type of ultrasonography is well-suited to identifying the location of high-velocity flow (such as in a stenosis) or of mapping the extent of flow in a certain region.Software: Sequential operating programs and data which instruct the functioning of a digital computer.Observer Variation: The failure by the observer to measure or identify a phenomenon accurately, which results in an error. Sources for this may be due to the observer's missing an abnormality, or to faulty technique resulting in incorrect test measurement, or to misinterpretation of the data. Two varieties are inter-observer variation (the amount observers vary from one another when reporting on the same material) and intra-observer variation (the amount one observer varies between observations when reporting more than once on the same material).Positron-Emission Tomography: An imaging technique using compounds labelled with short-lived positron-emitting radionuclides (such as carbon-11, nitrogen-13, oxygen-15 and fluorine-18) to measure cell metabolism. It has been useful in study of soft tissues such as CANCER; CARDIOVASCULAR SYSTEM; and brain. SINGLE-PHOTON EMISSION-COMPUTED TOMOGRAPHY is closely related to positron emission tomography, but uses isotopes with longer half-lives and resolution is lower.Multivariate Analysis: A set of techniques used when variation in several variables has to be studied simultaneously. In statistics, multivariate analysis is interpreted as any analytic method that allows simultaneous study of two or more dependent variables.RNA, Viral: Ribonucleic acid that makes up the genetic material of viruses.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.Logistic Models: Statistical models which describe the relationship between a qualitative dependent variable (that is, one which can take only certain discrete values, such as the presence or absence of a disease) and an independent variable. A common application is in epidemiology for estimating an individual's risk (probability of a disease) as a function of a given risk factor.Biopsy, Fine-Needle: Using fine needles (finer than 22-gauge) to remove tissue or fluid specimens from the living body for examination in the pathology laboratory and for disease diagnosis.Early Diagnosis: Methods to determine in patients the nature of a disease or disorder at its early stage of progression. Generally, early diagnosis improves PROGNOSIS and TREATMENT OUTCOME.Neoplasm Staging: Methods which attempt to express in replicable terms the extent of the neoplasm in the patient.Open Reading Frames: A sequence of successive nucleotide triplets that are read as CODONS specifying AMINO ACIDS and begin with an INITIATOR CODON and end with a stop codon (CODON, TERMINATOR).Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Gene Amplification: A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.Area Under Curve: A statistical means of summarizing information from a series of measurements on one individual. It is frequently used in clinical pharmacology where the AUC from serum levels can be interpreted as the total uptake of whatever has been administered. As a plot of the concentration of a drug against time, after a single dose of medicine, producing a standard shape curve, it is a means of comparing the bioavailability of the same drug made by different companies. (From Winslade, Dictionary of Clinical Research, 1992)Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Clinical Coding: Process of substituting a symbol or code for a term such as a diagnosis or procedure. (from Slee's Health Care Terms, 3d ed.)Cluster Analysis: A set of statistical methods used to group variables or observations into strongly inter-related subgroups. In epidemiology, it may be used to analyze a closely grouped series of events or cases of disease or other health-related phenomenon with well-defined distribution patterns in relation to time or place or both.Preoperative Care: Care given during the period prior to undergoing surgery when psychological and physical preparations are made according to the special needs of the individual patient. This period spans the time between admission to the hospital to the time the surgery begins. (From Dictionary of Health Services Management, 2d ed)DNA, Complementary: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.Databases, Genetic: Databases devoted to knowledge about specific genes and gene products.International Classification of Diseases: A system of categories to which morbid entries are assigned according to established criteria. Included is the entire range of conditions in a manageable number of categories, grouped to facilitate mortality reporting. It is produced by the World Health Organization (From ICD-10, p1). The Clinical Modifications, produced by the UNITED STATES DEPT. OF HEALTH AND HUMAN SERVICES, are larger extensions used for morbidity and general epidemiological purposes, primarily in the U.S.Diagnostic Tests, Routine: Diagnostic procedures, such as laboratory tests and x-rays, routinely performed on all individuals or specified categories of individuals in a specified situation, e.g., patients being admitted to the hospital. These include routine tests administered to neonates.Genomic Structural Variation: Contiguous large-scale (1000-400,000 basepairs) differences in the genomic DNA between individuals, due to SEQUENCE DELETION; SEQUENCE INSERTION; or SEQUENCE INVERSION.Promoter Regions, Genetic: DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.Coronary Angiography: Radiography of the vascular system of the heart muscle after injection of a contrast medium.Ultrasonography: The visualization of deep structures of the body by recording the reflections or echoes of ultrasonic pulses directed into the tissues. Use of ultrasound for imaging or diagnostic purposes employs frequencies ranging from 1.6 to 10 megahertz.Tomography, Spiral Computed: Computed tomography where there is continuous X-ray exposure to the patient while being transported in a spiral or helical pattern through the beam of irradiation. This provides improved three-dimensional contrast and spatial resolution compared to conventional computed tomography, where data is obtained and computed from individual sequential exposures.Electrocardiography: Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Base Composition: The relative amounts of the PURINES and PYRIMIDINES in a nucleic acid.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.Molecular Diagnostic Techniques: MOLECULAR BIOLOGY techniques used in the diagnosis of disease.Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.Biopsy, Needle: Removal and examination of tissue obtained through a transdermal needle inserted into the specific region, organ, or tissue being analyzed.Case-Control Studies: Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.Gene Library: A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.Survival Analysis: A class of statistical procedures for estimating the survival function (function of time, starting with a population 100% well at a given time and providing the percentage of the population still well at later times). The survival analysis is then used for making inferences about the effects of treatments, prognostic factors, exposures, and other covariates on the function.Immunoassay: A technique using antibodies for identifying or quantifying a substance. Usually the substance being studied serves as antigen both in antibody production and in measurement of antibody by the test substance.Databases, Factual: Extensive collections, reputedly complete, of facts and data garnered from material of a specialized subject area and made available for analysis and application. The collection can be automated by various contemporary methods for retrieval. The concept should be differentiated from DATABASES, BIBLIOGRAPHIC which is restricted to collections of bibliographic references.Disease Progression: The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.Probability: The study of chance processes or the relative frequency characterizing a chance process.Magnetic Resonance Imaging: Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.Serologic Tests: Diagnostic procedures involving immunoglobulin reactions.Point-of-Care Systems: Laboratory and other services provided to patients at the bedside. These include diagnostic and laboratory testing using automated information entry.DNA Copy Number Variations: Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.Fibrin Fibrinogen Degradation Products: Soluble protein fragments formed by the proteolytic action of plasmin on fibrin or fibrinogen. FDP and their complexes profoundly impair the hemostatic process and are a major cause of hemorrhage in intravascular coagulation and fibrinolysis.DNA, Viral: Deoxyribonucleic acid that makes up the genetic material of viruses.Endosonography: Ultrasonography of internal organs using an ultrasound transducer sometimes mounted on a fiberoptic endoscope. In endosonography the transducer converts electronic signals into acoustic pulses or continuous waves and acts also as a receiver to detect reflected pulses from within the organ. An audiovisual-electronic interface converts the detected or processed echo signals, which pass through the electronics of the instrument, into a form that the technologist can evaluate. The procedure should not be confused with ENDOSCOPY which employs a special instrument called an endoscope. The "endo-" of endosonography refers to the examination of tissue within hollow organs, with reference to the usual ultrasonography procedure which is performed externally or transcutaneously.Acute Disease: Disease having a short and relatively severe course.Genes, Bacterial: The functional hereditary units of BACTERIA.Palpation: Application of fingers with light pressure to the surface of the body to determine consistence of parts beneath in physical diagnosis; includes palpation for determining the outlines of organs.Repetitive Sequences, Nucleic Acid: Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Regression Analysis: Procedures for finding the mathematical function which best describes the relationship between a dependent variable and one or more independent variables. In linear regression (see LINEAR MODELS) the relationship is constrained to be a straight line and LEAST-SQUARES ANALYSIS is used to determine the best fit. In logistic regression (see LOGISTIC MODELS) the dependent variable is qualitative rather than continuously variable and LIKELIHOOD FUNCTIONS are used to find the best relationship. In multiple regression, the dependent variable is considered to depend on more than a single independent variable.DNA Methylation: Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.Synteny: The presence of two or more genetic loci on the same chromosome. Extensions of this original definition refer to the similarity in content and organization between chromosomes, of different species for example.Reverse Transcriptase Polymerase Chain Reaction: A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.Cytodiagnosis: Diagnosis of the type and, when feasible, the cause of a pathologic process by means of microscopic study of cells in an exudate or other form of body fluid. (Stedman, 26th ed)Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.Contrast Media: Substances used to allow enhanced visualization of tissues.Immunoenzyme Techniques: Immunologic techniques based on the use of: (1) enzyme-antibody conjugates; (2) enzyme-antigen conjugates; (3) antienzyme antibody followed by its homologous enzyme; or (4) enzyme-antienzyme complexes. These are used histologically for visualizing or labeling tissue specimens.DNA, Neoplasm: DNA present in neoplastic tissue.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Diagnosis, Computer-Assisted: Application of computer programs designed to assist the physician in solving a diagnostic problem.Epidemiologic Methods: Research techniques that focus on study designs and data gathering methods in human and animal populations.DNA Transposable Elements: Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.Thyroid Nodule: A small circumscribed mass in the THYROID GLAND that can be of neoplastic growth or non-neoplastic abnormality. It lacks a well-defined capsule or glandular architecture. Thyroid nodules are often benign but can be malignant. The growth of nodules can lead to a multinodular goiter (GOITER, NODULAR).Chi-Square Distribution: A distribution in which a variable is distributed like the sum of the squares of any given independent random variable, each of which has a normal distribution with mean of zero and variance of one. The chi-square test is a statistical test based on comparison of a test statistic to a chi-square distribution. The oldest of these tests are used to detect whether two or more population distributions differ from one another.Frozen Sections: Thinly cut sections of frozen tissue specimens prepared with a cryostat or freezing microtome.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Tomography, Emission-Computed, Single-Photon: A method of computed tomography that uses radionuclides which emit a single photon of a given energy. The camera is rotated 180 or 360 degrees around the patient to capture images at multiple positions along the arc. The computer is then used to reconstruct the transaxial, sagittal, and coronal images from the 3-dimensional distribution of radionuclides in the organ. The advantages of SPECT are that it can be used to observe biochemical and physiological processes as well as size and volume of the organ. The disadvantage is that, unlike positron-emission tomography where the positron-electron annihilation results in the emission of 2 photons at 180 degrees from each other, SPECT requires physical collimation to line up the photons, which results in the loss of many available photons and hence degrades the image.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Models, Statistical: Statistical formulations or analyses which, when applied to data and found to fit the data, are then used to verify the assumptions and parameters used in the analysis. Examples of statistical models are the linear model, binomial model, polynomial model, two-parameter model, etc.Genome, Fungal: The complete gene complement contained in a set of chromosomes in a fungus.Kaplan-Meier Estimate: A nonparametric method of compiling LIFE TABLES or survival tables. It combines calculated probabilities of survival and estimates to allow for observations occurring beyond a measurement threshold, which are assumed to occur randomly. Time intervals are defined as ending each time an event occurs and are therefore unequal. (From Last, A Dictionary of Epidemiology, 1995)Expressed Sequence Tags: Partial cDNA (DNA, COMPLEMENTARY) sequences that are unique to the cDNAs from which they were derived.Proportional Hazards Models: Statistical models used in survival analysis that assert that the effect of the study factors on the hazard rate in the study population is multiplicative and does not change over time.Conserved Sequence: A sequence of amino acids in a polypeptide or of nucleotides in DNA or RNA that is similar across multiple species. A known set of conserved sequences is represented by a CONSENSUS SEQUENCE. AMINO ACID MOTIFS are often composed of conserved sequences.Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.Cross-Sectional Studies: Studies in which the presence or absence of disease or other health-related variables are determined in each member of the study population or in a representative sample at one particular time. This contrasts with LONGITUDINAL STUDIES which are followed over a period of time.Physical Examination: Systematic and thorough inspection of the patient for physical signs of disease or abnormality.Diagnostic Techniques and Procedures: Methods, procedures, and tests performed to diagnose disease, disordered function, or disability.Nucleic Acid Amplification Techniques: Laboratory techniques that involve the in-vitro synthesis of many copies of DNA or RNA from one original template.Lymphatic Metastasis: Transfer of a neoplasm from its primary site to lymph nodes or to distant parts of the body by way of the lymphatic system.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.Coronary Stenosis: Narrowing or constriction of a coronary artery.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Bacterial Proteins: Proteins found in any species of bacterium.Ultrasonography, Doppler: Ultrasonography applying the Doppler effect, with frequency-shifted ultrasound reflections produced by moving targets (usually red blood cells) in the bloodstream along the ultrasound axis in direct proportion to the velocity of movement of the targets, to determine both direction and velocity of blood flow. (Stedman, 25th ed)DNA-Binding Proteins: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.Clinical Laboratory Techniques: Techniques used to carry out clinical investigative procedures in the diagnosis and therapy of disease.Vaginal Smears: Collection of pooled secretions of the posterior vaginal fornix for cytologic examination.Gentian Violet: A dye that is a mixture of violet rosanilinis with antibacterial, antifungal, and anthelmintic properties.Recurrence: The return of a sign, symptom, or disease after a remission.Clinical Enzyme Tests: Analyses for a specific enzyme activity, or of the level of a specific enzyme that is used to assess health and disease risk, for early detection of disease or disease prediction, diagnosis, and change in disease status.Coronary Artery Disease: Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.Ultrasonography, Prenatal: The visualization of tissues during pregnancy through recording of the echoes of ultrasonic waves directed into the body. The procedure may be applied with reference to the mother or the fetus and with reference to organs or the detection of maternal or fetal disease.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Myocardial Infarction: NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION).Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Pseudogenes: Genes bearing close resemblance to known genes at different loci, but rendered non-functional by additions or deletions in structure that prevent normal transcription or translation. When lacking introns and containing a poly-A segment near the downstream end (as a result of reverse copying from processed nuclear RNA into double-stranded DNA), they are called processed genes.Gene Expression Regulation: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.Multidetector Computed Tomography: Types of spiral computed tomography technology in which multiple slices of data are acquired simultaneously improving the resolution over single slice acquisition technology.Segmental Duplications, Genomic: Low-copy (2-50) repetitive DNA elements that are highly homologous and range in size from 1000 to 400,000 base pairs.Age Factors: Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.Neoplasms: New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.Survival Rate: The proportion of survivors in a group, e.g., of patients, studied and followed over a period, or the proportion of persons in a specified group alive at the beginning of a time interval who survive to the end of the interval. It is often studied using life table methods.Incidence: The number of new cases of a given disease during a given period in a specified population. It also is used for the rate at which new events occur in a defined population. It is differentiated from PREVALENCE, which refers to all cases, new or old, in the population at a given time.Lung Neoplasms: Tumors or cancer of the LUNG.Feces: Excrement from the INTESTINES, containing unabsorbed solids, waste products, secretions, and BACTERIA of the DIGESTIVE SYSTEM.Chromosomes, Human: Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.Bayes Theorem: A theorem in probability theory named for Thomas Bayes (1702-1761). In epidemiology, it is used to obtain the probability of disease in a group of people with some characteristic on the basis of the overall rate of that disease and of the likelihood of that characteristic in healthy and diseased individuals. The most familiar application is in clinical decision analysis where it is used for estimating the probability of a particular diagnosis given the appearance of some symptoms or test result.Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.Pilot Projects: Small-scale tests of methods and procedures to be used on a larger scale if the pilot study demonstrates that these methods and procedures can work.Gene Order: The sequential location of genes on a chromosome.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Cervix Uteri: The neck portion of the UTERUS between the lower isthmus and the VAGINA forming the cervical canal.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Reference Values: The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality.
Cell (1999) PLoS Currents Evidence of Genomic Tests Harbour, J. W., et al. (2010). "Frequent mutation of BAP1 in metastasizing ... Harbour was awarded a $2.5 million grant from the NCI (National Cancer Institute) entitled "Molecular Predictive Testing in ... Harbour receives 2.5-million grant for ocular melanoma predictive test Harbour et al. ... Subsequently, the test has been showcased in a front-page story in the New York Times, in a segment on CBS News Sunday Morning ...
used a genomic risk score (GRS) generated over 6 cohorts with an AUC of 0.86 to 0.90. For predictive genomics to address their ... De Leon, J; Susce, M. T.; Murray-Carmichael, E (2006). "The Ampli Chip CYP450 genotyping test: Integrating a new clinical tool ... However, non-genetic based tests such as the Cambridge and Framingham offspring risk scores have been purported to perform ... Predictive genomics has not been constrained to prediction of complex diseases. For instance, Hayes et al. uses genomic ...
While precision medicine currently individualizes treatment mainly on the basis of genomic tests (e.g. Oncotype DX), several ... In this model, diagnostic testing is often employed for selecting appropriate and optimal therapies based on the context of a ... Discovery of colorectal cancer PIK3CA mutation as potential predictive biomarker: power and promise of molecular pathological ... "N-of-One: Tailored Clinical Molecular Test Interpretation". Blau, CA, Liakopoulou, E (2013). "Can we deconstruct ...
Catalogues of more than 50,000 tests available worldwide can be found at GeneTests and Genetic Testing Registry. Predictive and ... Elective genetic and genomic testing are DNA tests performed for an individual who does not have an indication for testing. An ... Some elective genetic and genomic tests require a physician to order the test to ensure that individuals understand the risks ... Other DNA-based tests, such as a genealogical DNA test do not require a physician's order. Elective testing is generally not ...
Predictive and presymptomatic testing: Predictive and presymptomatic types of testing are used to detect gene mutations ... Forensic testing: Forensic testing uses DNA sequences to identify an individual for legal purposes. Unlike the tests described ... "Genetic Testing". American Medical Association. Retrieved 2015-01-23.. *^ "Genomic Tumor Assessment". Cancer Treatment Centers ... Gene Testing *^ Holtzman NA, Murphy PD, Watson MS, Barr PA (October 1997). "Predictive genetic testing: from basic research to ...
As with other new technologies, doctors can order genomic tests for which some are not correctly trained to interpret the ... November 2006). "Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers ... have predictive genetics of sufficiently high clinical impact that they are recommended as medical genetic tests available for ... "Gene Tests".. *^ Wetterstrand, Kris (21 May 2012). "DNA Sequencing Costs: Data from the NHGRI Large-Scale Genome Sequencing ...
The company Grail uses Illumina sequencing technology for tests. The company plans to roll out the tests by 2019, with a cost ... This was part of the company's strategy at the time to open its own CLIA lab and begin offering clinical genetic testing itself ... Customers include genomic research centers, pharmaceutical companies, academic institutions, clinical research organizations ... in 1997 by Pascal Mayer and Laurent Farinelli and which was acquired by Solexa in 2004 from the company Manteia Predictive ...
A simple blood test is non-invasive and much safer and easier to subject cancer patients to multiple times through the course ... Several statistical significance tests can be performed against background to all type of variant calling. For example, ... In another study on DLBCL (diffuse large B cell lymphoma), ctDNA was also found to be predictive of relapse. Biopsies are ... CAPP-Seq specifically allows for the screening of multiple genomic locations which will become important as the list of cancer ...
... establishes the basis for developing a predictive model into which future unknown test objects can be input in order to predict ... Thirdly, probes that are designed to detect the mRNA of a particular gene may be relying on genomic EST information that is ... determined using classical hypothesis tests (next section), Gini diversity index, or information gain (entropy). Hypothesis- ... DNA microarrays can be used to detect DNA (as in comparative genomic hybridization), or detect RNA (most commonly as cDNA after ...
Ayati, Marzieh; Koyutürk, Mehmet (2014-01-01). "Prioritization of Genomic Locus Pairs for Testing Epistasis". Proceedings of ... In addition, in those tests which used artificial gene networks, negative epistasis is only found in more densely connected ... was designed specifically for nonparametric and model-free detection of combinations of genetic variants that are predictive of ... Experimentally, this idea has been tested in using digital simulations of asexual and sexual populations. Over time, sexual ...
September 2009). "Clinical validation of an array CGH test for HER2 status in breast cancer reveals that polysomy 17 is a rare ... RFLP also aids in the identification of the Huntingtin (HTT) gene which is predictive of an adult-onset autosomal disorder ... This was discovered using array comparative genomic hybridization, a DNA-based alternative for clinical evaluation of HER2 gene ... "Long-term outcomes of positive fluorescence in situ hybridization tests in primary sclerosing cholangitis". Hepatology. 51 (1 ...
... company-operated laboratory Genomic Health, which developed Oncotype DX, offers the test under these so-called home brew rules ... "Genomic analysis identifies unique signatures predictive of brain, lung, and liver relapse". Breast Cancer Research and ... No tests have been verified by Level I evidence, which is rigorously defined as being derived from a prospective, randomized ... 2010). "Genomic subtypes of breast cancer identified by array-comparative genomic hybridization display distinct molecular and ...
Since these tests have become mainstream tests, they have been fully automated for both animal and human testing. Among the ... 0.9 although they should be chosen with the population in mind so positive predictive value and negative predictive value are ... Many genomic and proteomics techniques are available for biomarker discovery and a few techniques that are recently being used ... For rapid initiation of treatment, the speed with which a result is obtained from the biomarker test is critical. A rapid test ...
... it has been reported that overall genomic pattern, as tested by array-based karyotyping, is a predictor of outcome in ... Loss of 7q is known to be predictive for rapid progression and poor response in AML therapy.MPN-blast phase patients with ... Isodisomy 3 is prognostically equivalent to monosomy 3, and both can be detected by tests for chromosome 3 loss of ... "Customized oligonucleotide array-based comparative genomic hybridization as a clinical assay for genomic profiling of chronic ...
The DecisionDx-UM test has become standard of care in the majority of ocular oncology centers in the U.S. and is recommended by ... The lack of accurate prognostic tests to identify which patients are at risk of developing clinically overt metastatic disease ... and predictive modeling was performed to identify an optimum set of genes able to accurately predict metastatic risk and report ... array comparative genomic hybridization (aCGH), SNP, multiplex ligation-dependent probe amplification (MLPA), and ...
7 January 2013). "Genomic responses in mouse models poorly mimic human inflammatory diseases". Proceedings of the National ... Voskoglou-Nomikos, T; Pater, J; Seymour, L (15 September 2003). "Clinical predictive value of the in vitro cell line, human ... including issues with the design and execution of the tests themselves. For example, researchers have found that many rats and ... Animal Testing Animal model BALB/c C57BL/6 Mouse models of colorectal and intestinal cancer Preclinical imaging Rat Park ...
Additional tests examined sensitivity to errors in phylogenetic inference, lack of genomic data, and the accuracy of the ... Langille et al tested the accuracy of this genome prediction step using leave-one-out cross validation on the input set of ... "Predictive functional profiling of microbial communities using 16S rRNA marker gene sequences". Nature Biotechnology. 31 (9): ... Test datasets included human microbiome samples from the Human Microbiome Project, soil samples, diverse mammalian samples, and ...
Testing for association between RNA-Seq and high-dimensional data. GPSeq GPSeq This is a software tool to analyze RNA-seq data ... GMAP GMAP A Genomic Mapping and Alignment Program for mRNA and EST Sequences. HISAT HISAT. HISAT is a fast and sensitive ... Importantly, CRAC improves its predictive performance when supplied with e.g. 200 nt reads and should fit future needs of read ... S4 SequenceSummary objects allow specific tests and functionality to be written around the data collected. RNA-SeQC RNA-SeQC is ...
Li CJ, Li JQ, Liang XF, Li XX, Cui JG, Yang ZJ, Guo Q, Cao KJ, Huang J (Mar 2010). "Point-of-care test of heart-type fatty acid ... Commercial tests include a Cardiac Array on Evidence MultiStat; and an automated biochemistry assay (both by Randox ... genomic structure and mutation analysis in human breast tumors". Genomics. 34 (1): 63-8. doi:10.1006/geno.1996.0241. PMID ... showed that measuring H-FABP in combination with troponin increased the diagnostic accuracy and with a negative predictive ...
demonstrated a remarkable genomic conservation during the past 1000 years and a close similarity between modern and ancient ... This can be used as a diagnostic test for the presence of bacilli in body lesions of suspected leprosy patients. The difficulty ... In one Ethiopian study, the following criteria had a sensitivity of 94% with a positive predictive value of 98% in diagnosing ... Information from the completed genome can be useful to develop diagnostic skin tests, to understand the mechanisms of nerve ...
... and Comparative Genomic Hybridization (CGH). These tests can also be performed prenatally to detect aneuploidy in a pregnancy, ... This has therefore suggested that the presence of an abnormal number of chromosomes might be an effective predictive biomarker ... Recent advances have allowed for less invasive testing methods based on the presence of fetal genetic material in maternal ... Loss of tumor suppressor p53 gene often results in genomic instability, which could lead to the aneuploidy genotype. In ...
Enzyme testing is performed for a wide range of metabolic disorders to confirm a diagnosis suspected based on screening tests. ... Array comparative genomic hybridization is a new molecular technique that involves hybridization of an individual DNA sample to ... predictive medicine. Medical genetics encompasses many different areas, including clinical practice of physicians, genetic ... The geneticist will establish a differential diagnosis and recommend appropriate testing. These tests might evaluate for ...
Predictive testing is useful for young people to avoid serious complications of the disease. If patients with HSAN I receive ... The diagnosis is also supported by additional tests, such as nerve conduction studies in the lower limbs to confirm a sensory ... In patients with the mutations, global hypomethylation and local hypermethylation are observed in their genomic DNA. These ... Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation has been identified in the ...
The ability to test and analyze an individual's DNA to determine if the body can break down certain drugs through the ... First, would there be a type equity at both drug development and the accessibility to tests. The concern of accessibility to ... Overall, they are at greater risk of adverse effects, although as individuals their genotype is not necessarily predictive of ... There has been a dramatic increase in the amount of genomic information that is available. This information provides the ...
Based on a series of 493 neuroblastoma samples, it has been reported that overall genomic pattern, as tested by array-based ... and other laboratory tests. It may arise from any neural crest element of the sympathetic nervous system (SNS). ... PDX models are more predictive of clinical outcome as compared to conventional cancer cell line xenografts.[72] Neuroblastoma ... Further treatment is available in phase I and phase II clinical trials that test new agents and combinations of agents against ...
The Framingham Risk Score is a gender-specific algorithm used to estimate the 10-year cardiovascular risk of an individual. The Framingham Risk Score was first developed based on data obtained from the Framingham Heart Study, to estimate the 10-year risk of developing coronary heart disease. In order to assess the 10-year cardiovascular disease risk, cerebrovascular events, peripheral artery disease and heart failure were subsequently added as disease outcomes for the 2008 Framingham Risk Score, on top of coronary heart disease. The Framingham Risk Score is one of a number of scoring systems used to determine an individual's chances of developing cardiovascular disease. A number of these scoring systems are available online. Cardiovascular risk scoring systems give an estimate of the probability that a person will develop cardiovascular disease within a specified amount of time, usually 10 to 30 years. Because they give an indication of the risk of developing cardiovascular disease, they also ...
給定一個二元分類模型和它的閾值,就能從所有樣本的(陽性/陰性)真實值和預測值計算出一個 (X=FPR, Y=TPR) 座標點。. 從 (0, 0) 到 (1,1) 的對角線将ROC空间划分为左上/右下两个区域,在这条线的以上的点代表了一个好的分类结果(勝過隨機分類),而在这条线以下的点代表了差的分类结果(劣於隨機分類)。. 完美的預測是一个在左上角的点,在ROC空间座标 (0,1)点,X=0 代表着没有偽阳性,Y=1 代表著沒有偽阴性(所有的陽性都是真陽性);也就是說,不管分類器輸出結果是陽性或陰性,都是100%正確。一个随机的预测会得到位於从 (0, 0) 到 (1, 1) ...
Another way to understand in the context of medical tests is that sensitivity is the extent to which true positives are not missed/overlooked (so false negatives are few) and specificity is the extent to which positives really represent the condition of interest and not some other condition being mistaken for it (so false positives are few). Thus a highly sensitive test rarely overlooks a positive (for example, showing "nothing bad" despite something bad existing); a highly specific test rarely registers a positive for anything that is not the target of testing (for example, finding one bacterial species when another closely related one is the true target); and a test that is highly sensitive and highly specific does both, so it "rarely overlooks a thing that it is looking for" and it "rarely mistakes anything else for that thing." Because most medical tests do not have sensitivity and specificity values above 99%, "rarely" does not equate to certainty. But ...
A nucleic acid test (NAT) or nucleic acid amplification test (NAAT) is a molecular technique used to detect a particular pathogen (virus or bacterium) in a specimen of blood or other tissue or body fluid. It does so by detecting and amplifying the RNA or DNA of the pathogen, that is, making extra copies of its nucleic acids. This type of medical test was developed to shorten the window period, a time between when a patient has been infected and when they show up as positive by antibody tests such as ELISA. Whereas antibody positivity cannot occur until the immune system has had days or weeks to develop a sizable subpopulation of antibodies specific to the pathogen, a NAT can detect a pathogen as soon as it is present. The term includes any test that directly detects the genetic material of the infecting organism or virus, such as polymerase chain reaction, ligase chain reaction, and others. Their mode of use is usually that a suspected diagnosis is narrowed down on the basis of the history ...
... probes are hydrolysis probes that are designed to increase the specificity of quantitative PCR. The method was first reported in 1991 by researchers at Cetus Corporation, and the technology was subsequently developed by Roche Molecular Diagnostics for diagnostic assays and by Applied Biosystems (now part of Thermo Fisher Scientific) for research applications. The TaqMan probe principle relies on the 5´-3´ exonuclease activity of Taq polymerase to cleave a dual-labeled probe during hybridization to the complementary target sequence and fluorophore-based detection. As in other quantitative PCR methods, the resulting fluorescence signal permits quantitative measurements of the accumulation of the product during the exponential stages of the PCR; however, the TaqMan probe significantly increases the specificity of the detection. TaqMan probes were named after the videogame Pac-Man (Taq Polymerase + PacMan = TaqMan) as its mechanism is based on the Pac-Man principle. TaqMan probes consist of ...
The touchdown polymerase chain reaction or touchdown style polymerase chain reaction is a method of polymerase chain reaction by which primers avoid amplifying nonspecific sequences. The annealing temperature during a polymerase chain reaction determines the specificity of primer annealing. The melting point of the primer sets the upper limit on annealing temperature. At temperatures just above this point, only very specific base pairing between the primer and the template will occur. At lower temperatures, the primers bind less specifically. Nonspecific primer binding obscures polymerase chain reaction results, as the nonspecific sequences to which primers anneal in early steps of amplification will "swamp out" any specific sequences because of the exponential nature of polymerase amplification. The earliest steps of a touchdown polymerase chain reaction cycle have high annealing temperatures. The annealing temperature is decreased in increments for every subsequent set of cycles (the number of ...
... (NEAR) is a method for in vitro DNA amplification like the polymerase chain reaction (PCR). NEAR is isothermal, replicating DNA at a constant temperature using a polymerase (and nicking enzyme) to exponentially amplify the DNA at a temperature range of 55 °C to 59 °C. One disadvantage of PCR is that it consumes time uncoiling the double-stranded DNA with heat into single strands (a process called denaturation) . This leads to amplification times typically thirty minutes or more for significant production of amplified products.[better source needed] Potential advantages of NEAR over PCR are increased speed and lower energy requirements, characteristics that are shared with other isothermal amplification schemes. A major disadvantage of NEAR relative to PCR is that production of nonspecific amplification products is a common issue with isothermal amplification reactions. The NEAR reaction uses naturally occurring or engineered endonucleases that introduce a ...
... N.V. (now Fujirebio Europe N.V.) is an international in vitro diagnostics (IVD) company, with headquarters in Ghent, Belgium. The company develops and markets IVD testing solutions from specialized manual testing to fully automated routine testing that cover areas such as infectious diseases, oncology, genetic testing, thyroid, fertility, tissue typing, neurodegeneration and bone. The company was acquired in September 2010 by Japanese Fujirebio Inc., part of Miraca Holdings Inc., and changed name to Fujirebio Europe on October 1, 2013. The CEO of Fujirebio Europe N.V. is Christiaan De Wilde. Innogenetics was founded on 18 July 1985, by Erik Tambuyzer, Hugo Van Heuverswyn and Rudi Mariën. In 1992, the company launched the first commercial tests for cystic fibrosis in Europe (INNO-LiPA CFTR) and in 1993 the first commercial test for Hepatitis C virus (HCV) genotyping worldwide (INNO-LiPA HCV). In 1995, the first ...
In analytical chemistry, the detection limit, lower limit of detection, or LOD (limit of detection), is the lowest quantity of a substance that can be distinguished from the absence of that substance (a blank value) with a stated confidence level (generally 99%). The detection limit is estimated from the mean of the blank, the standard deviation of the blank and some confidence factor. Another consideration that affects the detection limit is the accuracy of the model used to predict concentration from the raw analytical signal. There are a number of different "detection limits" that are commonly used. These include the instrument detection limit (IDL), the method detection limit (MDL), the practical quantification limit (PQL), and the limit of quantification (LOQ). Even when the same terminology is used, there can be differences in the LOD according to nuances of what definition is used and what type of noise contributes to the measurement and calibration. The figure below illustrates the ...
... (NASDAQ: CPHD) is an American molecular diagnostics company that develops, manufactures and markets fully integrated systems for testing in the clinical market, and for application in its original non-clinical market. The company's systems enable rapid, sophisticated molecular testing for organisms and genetic-based diseases by automating otherwise complex manual laboratory procedures. It was the winner of 2006 Industrial Design Excellence Awards for its product, Reagent Bead Dispenser. It won the federal contract by "MRSA Reagent Test Kits" in 2012. One of the company's customer is U.S. Food and Drug Administration (FDA). Danaher acquired Cepheid on November 4, 2016. Cepheid was founded in March 1996 by Thomas Gutshall, Bill McMillan, Dr. Kurt Petersen, Dr. Greg Kovacs, Steven Young and Dr. Allen Northrup. The initial public offering was June 21, 2000 at $6 per share. Cepheid stock is traded on the Nasdaq Global Market System under the ticker symbol CPHD. The company's ...
ST's have two major advantages over conventional designs. The first is practical. Using the ST layout places the toroidal magnets much closer to the plasma, on average. This greatly reduces the amount of energy needed to power the magnets in order to reach any particular level of magnetic field within the plasma. Smaller magnets cost less, reducing the cost of the reactor. The gains are so great that superconducting magnets may not be required, leading to even greater cost reductions. START placed the secondary magnets inside the vacuum chamber, but in modern machines these have been moved outside and can be superconducting.[32] The other advantages have to do with the stability of the plasma. Since the earliest days of fusion research, the problem in making a useful system has been a number of plasma instabilities that only appeared as the operating conditions moved ever closer to useful ones for fusion power. In 1954 Edward Teller hosted a meeting exploring some of these issues, and noted that ...
給定一個二元分類模型和它的閾值,就能從所有樣本的(陽性/陰性)真實值和預測值計算出一個 (X=FPR, Y=TPR) 座標點。. 從 (0, 0) 到 (1,1) 的對角線将ROC空间划分为左上/右下两个区域,在这条线的以上的点代表了一个好的分类结果(勝過隨機分類),而在这条线以下的点代表了差的分类结果(劣於隨機分類)。. 完美的預測是一个在左上角的点,在ROC空间座标 (0,1)点,X=0 代表着没有偽阳性,Y=1 代表著沒有偽阴性(所有的陽性都是真陽性);也就是說,不管分類器輸出結果是陽性或陰性,都是100%正確。一个随机的预测会得到位於从 (0, 0) 到 (1, 1) ...
രാസപരമായി എൻസൈമുകളെ സരളം (simple) എന്നും സങ്കീർണം (complex) എന്നും രണ്ടായി തിരിക്കാറുണ്ട്. സരള-എൻസൈമുകൾ[2] പ്രോട്ടീനുകൾ മാത്രമാണ്; അവ താരതമ്യേന സരളവുമായിരിക്കും. എന്നാൽ സങ്കീർണ-എൻസൈമുകളിൽ[3] പ്രോട്ടീൻ അംശത്തിനു പുറമേ പ്രോട്ടീനല്ലാത്ത ഒരു അംശം കൂടി ഉണ്ടായിരിക്കും. പ്രോട്ടീനല്ലാത്ത അംശത്തെ പ്രോസ്തെറ്റിക് ഗ്രൂപ്പ് [4] എന്നാണ് പറയാറുള്ളത്; പ്രോട്ടീനംശത്തെ അപ്പൊ എൻസൈം എന്നും. ...
... explored whether genetic counseling programs are incorporating instruction about the applications and techniques of predictive ... genomic testing (PGT) based on student recollection, and wheth ... tests and identify clinical situations warranting such testing ... Predictive genomic testing Genome sequencing Genomic medicine Genetic counseling Education Predictive testing ... Loud, J. (2010). Direct-to-consumer genetic and genomic testing: preparing nurse practitioners for genomic healthcare. The ...
Push for Predictive Genetic Tests. Matt Hancock, the UK health secretary, is calling for the swift rollout of predictive ... NEW YORK (GenomeWeb) - French molecular diagnostics firm Genomic Vision today said that revenues for the first half of 2015 ... Roche Gets CE Mark for Mutation Profiler Software for NGS Cancer Tests. ...
Figure 19: Cumulative Numbers of BRCA Gene Tests in the US and Europe, 2000-2012 129. Figure 20: Genomic Sequencing Costs, 2001 ... 7.1.2 Gene Test Analysis 130. 7.1.3 Gene-Testing Hardware 133. 7.1.4 Laboratory-Developed Tests 136. 7.2 Testing Volumes 140. ... Annualized Predictive Breast Cancer Gene Testing market revenue, annual cost of gene testing and breast cancer gene testing ... Pipeline analysis: Emerging breast cancer gene tests, both predictive gene tests and gene expression tests, emerging platform ...
... as well as issues surrounding specific applications of human genomic information for medicine and public health are all ... 22 Evaluation of predictive genetic tests for common diseases: bridging epidemiological, clinical, and public health measures A ... 30 Cytochrome P450 testing in the treatment of depression Iris Grossman, Mugdha Thakur, and David B. Matchar. ... 23 The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working Group ...
The purpose of this study is to better understand the impact of predictive genomic testing in the healthy adult population by ... Interventional study (clinical trial) - studies new tests, treatments, drugs, surgical procedures or devices. ... A Study to Evaluate Patient Experience and Satisfaction with Predictive Genomic Testing Ordered Through SL3. *. Location:. ... A Study to Evaluate Patient Experience and Satisfaction with Predictive Genomic Testing Ordered Through SL3. Rochester, MN ...
K. Offit, "Genomic profiles for disease risk: predictive or premature?" Journal of the American Medical Association, vol. 299, ... C. S. Bloss, B. F. Darst, E. J. Topol et al., "Direct-to-consumer personalized genomic testing," Human Molecular Genetics, vol ... L. Goldsmith, L. Jackson, A. OConnor, and H. Skirton, "Direct-to-consumer genomic testing: systematic review of the literature ... and use of direct-to-consumer personal genomic tests, United States, 2008," Genetics in Medicine, vol. 11, no. 8, p. 595, 2009. ...
To identify potential predictive biomarkers beyond the genomic alteration by which treatment is assigned or resistance ... paired t-tests for normally distributed biomarker values or McNemar tests for paired binary data). It will also be assessed ... Potential predictive biomarkers beyond the genomic alteration [ Time Frame: Baseline ]. Biomarkers measured prior to treatment ... t-tests (continuous biomarkers, possibly transformed), or non-parametric tests, as appropriate depending on the distribution of ...
genetic disease where predictive genetic testing became available.. And so in thinking about how people deal with genetic ... that we really didnt understand whether or not if tests are available. ... Is what were the psychological consequences of a positive test result?. Right, its a death sentence if you get the test result ... If you ask people with Huntington Disease before the test became. available, would they get the test, 70, 80% said they would. ...
The recent marketing of at home genomic test...In recent years more than two dozen companies have been marketing a r...In his ... genomic,tests,for,disease,risk,premature,biological,biology news articles,biology news today,latest biology news,current ... application of deep learning to create predictive models of ... a growing suite of powerful tools. The Allen Cell ... publicly ... At home genomic tests for disease risk premature. ...NEW YORK MARCH 18 2008--The recent marketing of at home genomic test...In ...
Genetic Counseling and Testingplus icon *Genetic Counseling. *Genetic Testing. *Evaluating Genomic Tests ... Evaluation of predictive genetic tests for common diseases: Bridging epidemiological, clinical, and public health measures A. ... We first give an overview of the development and progress in applications of genomic technologies with a focus on genomic ... The Evaluation of Genomic Applications in Practice and Prevention (EGAPP™) initiative: Methods of the EGAPP™ working group ...
Predictive correlation. test, tst1,-test[,1];tst2,-test[,2];tst3,-test[,3];tst4,-test[,4] ... Convergence and diagnostic tests were performed. The Gelman-Rubin convergence tests for all parameters of the three models were ... Several genomic prediction models incorporating G × E have been recently developed and used in genomic selection of plant ... 2014 A reaction norm model for genomic selection using high-dimensional genomic and environmental data. Theor. Appl. Genet. 127 ...
However, the clinical significance of these genomic alterations re … ... demonstrating the feasibility of comprehensive genomic profiling in a clinical setting. ... The genomic profile of FFPE HNSCC tumors obtained through routine clinical practice is comparable with frozen tumors studied in ... Predictive Value of Tests Actions. * Search in PubMed * Search in MeSH * Add to Search ...
Predictive tests were done in 6 families; in total, the mutation was identified in all of the 13 affected women tested, ... The genomic sequence of human BRCA2 exon 12 to exon 13 was amplified by PCR from a Family A patient LCL using the following ... Genetic testing for BRCA1/2 was proposed to women based on individual and/or family history, as published (8). Index cases (i.e ... Genomic DNA from Family A index case was amplified with intron 12 primers: 5′-TGATGCCATTACCGATCAGA-3′ (c.6937+348-c.6937+367) ...
... outside the scope of the original research objective or diagnostic test being performed ... 2008) Creating and evaluating genetic tests predictive of drug response. Nature Reviews Drug Discovery 7(7): 568-574. ... Many clinician researchers have difficulty in separating their clinical and research obligations when genomic testing straddles ... The number of genetic tests is increasing much faster than the number of testing laboratories. In the past 20 years, the number ...
Genomic profiles for disease risk: predictive or premature? JAMA 2008;299:1353-5.doi:10.1001/jama.299.11.1353 ... For testing, t-tests and χ2 tests were used to compare age and proportions of participants between the groups with and without ... Direct-to-consumer personalized genomic testing. Hum Mol Genet 2011;20:R132-R141.doi:10.1093/hmg/ddr349 ... Public knowledge of and attitudes toward genetics and genetic testing. Genet Test Mol Biomarkers 2013;17:327-35.doi:10.1089/ ...
Alternatives to Animal Testing, Experimentation and Dissection - All of Gods creatures have rights, includes both human and ... Thats the research and testing that has been analyzed the most and shown to have no predictive value. Stoping that research ... Ennever, F.K., T.J. Noonan, and H.S. Rosenkranz, The predictivity of animal bioassays and short-term genotoxicity tests for ... Seok, J., et al., Genomic responses in mouse models poorly mimic human inflammatory diseases. Proceedings of the National ...
Our participants showed a positive attitude towards predictive genetic testing. We identified four main topics: 1) Anumeric ... Our participants showed a positive attitude towards predictive genetic testing. We identified four main topics: 1) Anumeric ... Aim: Analysis of lay attitudes and risk perceptions of German lay people on genetic testing with a special focus on how they ... Analysis of lay attitudes and risk perceptions of German lay people on genetic testing with a special focus on how they deal ...
... genomic,test,can,personalize,breast,cancer,treatment,medicine,medical news today,latest medical news,medical newsletters, ... They found that their genetic test was highly sensitive and very predictive for chemotherapy response. The test was more ... Rubicon Genomics Announces a Licensing Agreement With Abbott to Develop and Commercialize DNA Methylation Cancer Tests. 5. ... Another genomic test commonly used in clinical practice, OncotypeDX, does not identify all four tumor types. "Our test is the ...
Title: Framing the trajectories of decision-making in the context of predictive and prenatal genetic and genomic tests. Funder ... Psychological and sociomoral frames in genetic counseling for predictive testing. In: Sarangi, S. K., Candlin, C. and Knapp, K ... The negotiation of therapeutic frames in counselling for predictive genetic testing. Journal of Medical Genetics 38(Sup.1), pp ... The negotiation of therapeutic frames in counselling for predictive genetic testing. Journal of Medical Genetics 38(Sup.1), pp ...
launched the Oncotype DX AR-V7 Nucleus Detect test. The AR-V7 protein is a prognostic and predictive biomarker. This test aids ... This has led to a boost in demand for early cancer screening tests and procedures. Increasing focus of research institutes to ... For instance, in March 2018, Genomic Health, Inc. ...
Middle East Version In Vitro Diagnostic Testing Services Market - Market research report and industry analysis - 10060920 ... In Vitro Diagnostic Testing Services Market Trends and Forecasts 2016 to 2019 Latin America, Africa & ... 4. Laboratory, Molecular Diagnostics and Genomic Testing Recent Developments 4.1 Recent Developments - Importance and How to ... 2.4.45 Predictive Biosciences, Inc. 2.4.46 Enzo Biochem, Inc. 2.5 National and Regional Diversity 3. Market Trends 3.1 Factors ...
Volume & Price Forecasts by Laboratory Department.2016 to 2019 - Europe Version In Vitro Diagnostic Testing - Market research ... 4. Laboratory, Molecular Diagnostics and Genomic Testing Recent Developments 4.1 Recent Developments - Importance and How to ... 2.4.45 Predictive Biosciences, Inc. 2.4.46 Enzo Biochem, Inc. 2.5 National and Regional Diversity 3. Market Trends 3.1 Factors ... 4.19 FDA Gets Pushback on Move to Regulate Lab Developed Tests 4.20 Cancer Genetics, Inc. Announces Partnership with BARC ...
... highlight the scientific and societal ramifications of integrating genomics and genetic testing into our healthcare system, ... A May 2009 Medicare coverage decision involving genomic testing, and the passage of the Genetic Information Nondiscrimination ... "Research is needed to evaluate the predictive value of genomic tests and their potential to improve the use of clinically ... By 2008, testing was available for more than 1,300 conditions. Most tests are offered in clinical settings, and some can be ...
Genetic Counseling and Testingplus icon *Genetic Counseling. *Genetic Testing. *Evaluating Genomic Tests ... Predictive genetic testing for the identification of high-risk groups: a simulation study on the impact of predictive ability. ... Predictive value of testing for multiple genetic variants in multifactorial diseases: implications for the discourse on ethical ... Do we need genomic research for the prevention of common diseases with environmental causes?. Khoury MJ, Davis R, Gwinn M, ...
  • Genetic tests look at the unique genetic material (genes) of patients' tumor cells. (
  • Another genomic test commonly used in clinical practice, OncotypeDX, does not identify all four tumor types. (
  • This test aids physicians in taking therapeutic decisions in patients suffering from metastatic castration-resistant prostate cancer (mCRPC) by accurately detecting a splice variant of the androgen receptor protein (AR-V7) in the nucleus of circulating tumor cells (CTCs). (
  • 7. Tissue biopsies remain the gold standard source of tumor material for genomic testing. (
  • Many such promising markers are under investigation, including tumor PD-L1 expression or tumor mutational burden (TMB), but their use is limited by their requirement for sufficient tissue for testing. (
  • It will be interesting to test whether combining blood TMB with tumor PD-L1 expression gives even greater predictive power, particularly as PD-L1 levels could also be tested in blood. (
  • Tumor mutational burden can reveal genomic information and has shown some improvement over PD-L1 or in combination with PD-L1 as a biomarker, Gandara explained. (
  • In the case of prostate cancer, a genomic test can help predict the aggressiveness of the tumor, enabling the patient to select the most appropriate course of care. (
  • New genomic sequencing technologies have enabled the detection of tumor aberrations from circulating tumor DNA (ctDNA), which is DNA shed from tumor cells into the circulation. (
  • The Oncotype DX ® portfolio of breast, colon and prostate cancer tests applies advanced genomic science to reveal the unique biology of a tumor in order to optimize cancer treatment decisions. (
  • We can look at H&E-stained slides and make sure we are selecting the best area of tumor for molecular analysis and we can assess the number of tumor cells available for testing. (
  • The panel allows us to test small tumor biopsies for 46 cancer genes and help oncologists determine treatment strategy. (
  • The new assay, Oncotype DX Prostate Cancer Test, will potentially give tens of thousands of men increased confidence that they can safely forgo aggressive treatment and instead enter a program of active surveillance, where their tumor is monitored over time, deferring surgery or radiation and potentially avoiding the sexual and/or bowel and bladder dysfunction side-effects that can result from those treatments. (
  • This test represents the beginning of a personalized approach to the management of prostate cancer, whereby patients and their physicians are given additional information about the characteristics of a tumor that can be used to select the most appropriate course of action," said Dr. Ballantine Carter, the director of the Division of Adult Urology at Johns Hopkins Medicine in Baltimore. (
  • In this analysis, which incorporated clinical risk to genomic risk, high vs low clinical risk was determined from tumor size and histologic grade. (
  • In his talk at the AACR - PCF Conference, Cooperberg presented results from studies in which several biomarker tests were evaluated for their ability to refine CAPRA and related scores in predicting tumor aggressiveness. (
  • The Oncotype DX Genomic Prostate Score (GPS) is a similar test that examines the expression of 17 aggressive tumor-predictive genes in biopsy specimens. (
  • 1 The genomic prostate score derived from tumor-based gene expression patterns in the tumor was also associated with clinical tumor recurrence when assessed in adjacent normal prostate tissue, but the strength of the association was less robust than in tumor. (
  • To determine genomic alterations in head and neck squamous cell carcinoma (HNSCC) using formalin-fixed, paraffin-embedded (FFPE) tumors obtained through routine clinical practice, selected cancer-related genes were evaluated and compared with alterations seen in frozen tumors obtained through research studies. (
  • Diagnostic screening of the BRCA1/2 genes in breast cancer families is mostly done on genomic DNA. (
  • Technicians screen samples of genes that may cause deafness at a medical testing lab in Zhengzhou, Henan province, on Feb 20, 2016. (
  • The faulty gene, which gave her an 80 percent chance of developing breast cancer and a 40 percent chance of ovarian cancer, had been detected via a genomic test, which identifies changes to chromosomes, proteins and genes. (
  • We used genomic prediction to partition genetic variants into gene ontology (GO) terms and constituent genes, and identified GO terms and genes with high prediction accuracies in both social environments and for GSEI. (
  • We performed genomic prediction across environments, and identified genes in common between the social environments that turned out to be enriched for genome-wide associated variants. (
  • Entre un 0 y un 90% de cepas, dependiendo del fármaco que se considere, eran resistentes aunque no presentaban mutaciones en los genes incluidos en los sistemas comerciales. (
  • Predictive genomic testing is exciting to science and health professionals alike because it promises to help them find ways to modify human biochemistry long before potentially dangerous hereditary genes are "switched on" and sometimes-irreversible diseases take hold. (
  • Prenatal testing is diagnostic testing of a fetus before birth to detect abnormalities in the chromosomes or genes. (
  • Pusztai says the team analyzed 780 different combinations before winnowing the test down to a small set of genes. (
  • The new test-a 17- gene predictive "signature"-measures the amount of RNA expressed by these various genes, with some genes making large amounts of RNA and others making little. (
  • It was through these initial analyses that a group of over 700 candidate genes was winnowed down to the current 17 subset used in the predictive signature test now offered by Genomic Health. (
  • The genes associated with the strongest predictive value of the genomic prostate score in normal tissue were those representing stromal response and androgen signaling. (
  • The FOLLOW IT panel is a multiplex, NGS genomic assay designed for rapid deployment into labs around the world. (
  • Specialized in in vitro assay development for predictive toxicology and a co-developer of the GARD platform, Dr Johansson is passionate about bringing the latest advances in technology to practical use for the benefit of society. (
  • Recently launched by Genomic Health Inc, the Onco type DX prostate cancer assay is similar (in the sense that it assays gene expression) to the Onco type DX breast cancer assay used to determine whether women with node-negative early breast cancer should be treated with chemotherapy and whether women with ductal carcinoma in situ should receive radiation. (
  • We are optimistic that the same will be true for the prostate cancer assay," said Eric A. Klein, MD , Cleveland Clinic, lead author of the study on the Oncotype DX prostate cancer test presented at the Annual Meeting. (
  • It is the largest and fastest growing assay in genomic medicine, and over six million tests have been performed globally as of late 2017. (
  • The genomic test technology is patented and will be distributed through University Genomics, a company co-owned by Washington University, the University of Utah and the University of North Carolina. (
  • This year University Genomics is working with Associated Regional and University Pathologists Inc., a reference laboratory at the University of Utah, to provide a site where the 50-gene test will be available. (
  • Clinical laboratory testing is positioned to directly benefit from the explosion in biotechnology, especially genomics. (
  • Its passage is a major step toward effectively managing and appropriately integrating into our health care system the power of genomics and genetic testing. (
  • To stay abreast of advances in genetics and genomics, health care professionals should attain competencies in this area, learn to use point-of-care decision-support tools related to genetic testing and diagnoses, and counteract the spread of misconceptions about the certainty, sensitivity, and cost of genetic test results. (
  • On October 24, 2012 , the National Human Genome Research Institute (NHGRI) and the Center for Medical Technology Policy (CMTP) convened a workshop to explore innovative ways in which genomics-based tests could be covered by public and private payers while generating evidence of the test's impact on medical outcomes, and to develop an action plan enabling future reimbursement of such tests and large-scale sequencing. (
  • To develop a plan for future application of refined and novel reimbursement policy tools to evaluate the clinical utility, and the actual effect on the care of patients, of genomics-based tests. (
  • Through a series of case analysis exercises, develop a "reimbursement policy" strategy that 1) facilitates the collection of clinical and resource utilization data pertaining to genomics-based tests, 2) informs payer and developer decision-making in a manner that balances the need for methodological rigor, and 3) incorporates the lessons learned from prior initiatives. (
  • VANCOUVER, British Columbia & FOUNTAIN VALLEY, Calif.--( BUSINESS WIRE )--Contextual Genomics, a leading cancer genomics company, and Lab Genomics, a personalized medicine company providing state of the art molecular genetic testing in Southern California, announced that they have signed an agreement enabling Lab Genomics to offer Contextual Genomics' quality assured Next Generation Sequencing (NGS) based ctDNA cancer genomic testing to patients in Southern California and other parts of the United States. (
  • Under the terms of their agreement, Lab Genomics will offer the FOLLOW IT ® panel, a test detecting cell-free circulating tumour DNA in plasma to patients diagnosed with cancer. (
  • This partnership with Contextual Genomics, adding FOLLOW IT liquid biopsy cancer testing for our customers, provides a critical less invasive alternative testing option for cancer patients where tissue biopsy is difficult or not available. (
  • Contextual Genomics develops cost-effective and clinically actionable molecular tests that guide diagnosis and treatment of cancer. (
  • These customized tests are offered by our partner laboratories around the world with Contextual Genomics conducting cloud-based bioinformatics services via a SaaS model. (
  • Lab Genomics, LLC was cultivated with the ideal in mind of providing state of the art molecular genetic testing with the end goal of the best quality of life possible for the patient. (
  • The practicing oncologist would like to do one test that tells all about genomics and immunophenotype rather than order different tests," David Gandara, MD, director of the Thoracic Oncology Program at the University of California Davis Comprehensive Cancer Center, told MedPage Today . (
  • Having pioneered genomic testing in the corporate workplace over 10 years ago, we would like to share our real-world experience and knowledge to help you clarify your goals and objectives about DNA testing, shorten your learning curve in understanding what genomics can do, identify the program you need and help you to maximize your investment by setting metrics early on and realizing measurable and sustainable outcomes. (
  • social, ethical and legal issues in genomics and genetic testing, and neuroethics. (
  • People in Wales will in future receive a quicker diagnosis and more personalised treatments as part of a new strategy to harness new cutting-edge gene testing genomics technologies in the Welsh NHS. (
  • With more than 900,000 patients tested in more than 90 countries, the Oncotype DX tests have redefined personalized medicine by making genomics a critical part of cancer diagnosis and treatment. (
  • In this webinar, attendees will learn how genomics and machine learning can provide a highly accurate method for both skin and respiratory sensitization assessment of chemicals, including "difficult-to-test" substances. (
  • Our course aims to provide participants with some baseline knowledge of genomics, an overview of the clinical applications of genomic medicine, the skills to evaluate the clinical validity and utility of new tests, and an appreciation of the associated ethical and social issues inherent in this field. (
  • The remaining five lessons focus on five applications of genomics and present the material as case studies, highlighting the strengths, limitations, and issues that arise in the use of each test. (
  • This week, Drs. Nussbaum and Norton will describe the use of genomics in the reproductive setting: carrier testing, non-invasive prenatal screening, prenatal diagnosis of Mendelian diseases, and newborn screening. (
  • Genomic analysis and in vitro assays revealed that members of the gut microbiota play important roles in enhancing the life quality of the host. (
  • Both panels are multiplex, next-generation sequencing genomic assays designed for rapid deployment into labs around the world. (
  • 5. List the following genomic assays in order of increasing complexity: (A) targeted hot-spot sequencing (B) companion diagnostics (C) comprehensive genomic profiling. (
  • This presentation will introduce the developmental phases of the GARD assays and discuss the technological origins of the observed high predictive performance, as well as how the assays help industries overcome their specific challenges in safety testing in a broad applicability domain, as well as illustrate how GARD assays facilitate efficient decision-making in compliance with the principles of the 3Rs. (
  • How customers across the chemical industry use the assays for skin and respiratory sensitization testing. (
  • Today, when molecular assays are a routine part of laboratory testing, standardization has become an issue. (
  • Predictive genetic testing - in contrast to diagnostic tests - aims at the risk assessment of how likely it is to develop a particular disease (especially a multifactorial disease) in the following years based on a statistical, probabilistic analysis ( Genetic Alliance, 2009 ). (
  • This research can enhance the potential for targeted drug development, for screening and diagnostic tests, and for understanding the etiology of chronic diseases. (
  • In attendance were representatives from several stakeholder communities, including government, public and private payers of health insurance, manufacturers of genetic diagnostic tests, and academia. (
  • Over time, the same discoveries are also leading toward the development of improved treatment, prevention strategies and more accurate diagnostic tests, with life-saving results. (
  • Diagnostic tests are intended to definitively determine whether a patient has a particular problem. (
  • Genomic Health , Inc. (NASDAQ: GHDX) is the world's leading provider of genomic-based diagnostic tests that help optimize cancer care, including addressing the overtreatment of the disease, one of the greatest issues in healthcare today. (
  • These genetic diagnostic tests represent approximately $3 billion in health-care costs, informing and driving about 50 percent of all treatment decisions in the $5.5 trillion global health-care market. (
  • that can be assessed by the Kronecker product of variance-covariance matrices of genetic correlations between environments and genomic kernels through markers under two linear kernel methods, linear (genomic best linear unbiased predictors, GBLUP) and Gaussian (Gaussian kernel, GK). (
  • We assessed additional clinical findings as predictors of a genomic disorder using multivariate analysis, and found the likelihood of a genomic abnormality doubled when the finding of microcephaly was combined with dysmorphic features. (
  • Effect of training-sample size and classification difficulty on the accuracy of genomic predictors. (
  • INTRODUCTION: As part of the MicroArray Quality Control (MAQC)-II project, this analysis examines how the choice of univariate feature-selection methods and classification algorithms may influence the performance of genomic predictors under varying degrees of prediction difficulty represented by three clinically relevant endpoints. (
  • They found that their genetic test was highly sensitive and very predictive for chemotherapy response. (
  • In 2007, United Healthcare (UHC) agreed to pay for a gene-expression profiling test, OncotypeDX by Genomic Health (GH), designed to quantify the likelihood of disease recurrence in women with breast cancer and to predict whether adjuvant chemotherapy would be beneficial as part of a Performance-base Risk Sharing Agreement (PBRSA). (
  • Genomic tests improve prediction of breast cancer response to chemotherapy, hormon. (
  • SAN ANTONIO -- Researchers at The University of Texas M. D. Anderson Cancer Center have developed two genomic tests to better predict how breast cancer patients will respond to chemotherapy or hormonal therapy. (
  • In presentations Dec. 14-15 at the San Antonio Breast Cancer Symposium, the research team reports on a highly sensitive multiple-gene test designed to predict response to chemotherapy, performed before surgery at M.D. Anderson, and a genomic index that gauges 10-year survival for patients who receive post-operative hormonal therapy with the drug tamoxifen. (
  • The only test elevated to 'strongly consider' guideline inclusion with level 1 evidence, Oncotype DX continues to be distinguished as the only genomic test predictive of chemotherapy benefit. (
  • The study results, published in The New England Journal of Medicine , demonstrated that the Oncotype DX Breast Recurrence Score test definitively identifies the vast majority of women with early-stage breast cancer who receive no benefit from chemotherapy, and the important minority of women for whom chemotherapy benefit can be life-saving. (
  • We are pleased NCCN continues to clearly distinguish Oncotype DX from other genomic tests based on clinical evidence and the critical importance of predicting chemotherapy benefit,' said Steven Shak, M.D., chief scientific and medical officer, Genomic Health. (
  • This new strengthened NCCN guidelines, combined with the recent inclusion of Oncotype DX in international guidelines, demonstrates global support for Oncotype DX as the only 'preferred' test to guide optimal treatment based on its unique ability to predict chemotherapy benefit. (
  • The company's flagship product, the Oncotype DX Breast Recurrence Score ® test, is the only test that has been shown to predict the likelihood of chemotherapy benefit as well as recurrence in invasive breast cancer. (
  • CHICAGO - A year ago, results from TAILORx made a big splash by showing that use of the 21-gene signature ( Oncotype DX , Genomic Health) could identify women with breast cancer who do not need chemotherapy. (
  • That finding - which was the primary endpoint of TAILORx - showed that after 9 years of follow-up, postmenopausal women with hormone receptor-positive (HR+), human epidermal growth factor receptor 2-positive (HER 2+), node-negative breast cancer with intermediate genomic risk did not benefit from the addition of chemotherapy (CT) to endocrine therapy. (
  • Integration of genomic and clinical risk offers the potential for greater precision in prognosis and ultimately guiding the use of adjuvant chemotherapy," said lead author Joseph A. Sparano, MD, from the Montefiore Medical Center in New York City. (
  • With this new analysis, it is clear that women ages 50 or younger [premenopausal] with a Recurrence Score result between 16 and 20 and low clinical risk do not need chemotherapy," Sparano commented in a press release from Genomic Health. (
  • Incidental findings are most likely to become more frequent due to advances in genome‐wide technology and decreases in the cost of testing. (
  • The genetic literacy of healthcare professionals and public alike need to be considered when discussing genome‐wide testing technologies and attempts need to be made to increase knowledge across the board. (
  • and to interpret the results of genome-wide testing for risk of common disease. (
  • We have found that the networks, and their structure, provide unique insight into how genetic elements interact with each other and the structure of the network has predictive power for identifying SNPs likely to be associated with phenotype through genome wide association studies. (
  • However, the guideline failed to adequately reference the current clinical application of high-resolution genome-wide array-based comparative genomic hybridization (aCGH). (
  • The models included ordinary genomic BLUP models (GBLUP), using genome-wide SNP markers of varying densities (1-220 k), a genomic identity-by-descent model (IBD-GS), using linkage analysis of sparse genome-wide markers, as well as a classical pedigree-based model. (
  • Standard-of-care testing relies on tissue, which is limited by biopsy-related risks, specimen insufficiency, and lab processing duration, which hamper timely optimal treatment selection," she noted. (
  • At the AUA meeting, Genomic Health reported that they have validated these results in seven separate studies involving over 1,000 men diagnosed at biopsy with prostate cancer. (
  • 2 The test, developed jointly by investigators at UCSF and the Cleveland Clinic, significantly predicted the aggressiveness of disease ( P = .002) beyond clinical factors (including prostate-specific antigen [PSA] level and Gleason Score obtained at biopsy. (
  • In the past, use of active surveillance has been limited to some extent by the absence of a validated genomic tool to more accurately distinguish between low- and high-risk diseases at the time of biopsy," he added. (
  • This phase II MATCH trial studies how well treatment that is directed by genetic testing works in patients with solid tumors or lymphomas that have progressed following at least one line of standard treatment or for which no agreed upon treatment approach exists. (
  • In Dr. Hedvat's service, testing for RNA typically involves looking for abnormal RNA transcripts in solid tumors, such as sarcoma fusion gene transcripts, to establish a definitive diagnosis or a differential diagnosis, for example, Ewing's sarcoma. (
  • Research has shown that in men whose tumors turned out to be high-risk, those men tended to test positive for this 17-gene "signature," say those involved with the test. (
  • 2009). Health-related direct-to-consumer genetic tests: a public health assessment and analysis of practices related to Internet-based tests for risk of thrombosis. (
  • Matt Hancock, the UK health secretary, is calling for the swift rollout of predictive genetic tests, the Guardian reports. (
  • Gene testing in Europe is mostly carried out by the state funded health sector, but increasingly private companies are offering breast cancer gene tests to physicians. (
  • Public awareness and use of direct-to-consumer genetic tests: results from 3 state population-based surveys, 2006," American Journal of Public Health , vol. 99, no. 3, pp. 442-445, 2009. (
  • A volunteer subject with no known significant health problems who participates in research to test a new drug, device or intervention. (
  • to produce genomic information that would improve our health. (
  • Diagnostically conclusive predictive genetic test results increasingly affect patients' perceived responsibility for their health (e.g. (
  • 2.4.41 Genomic Health, Inc. (
  • Now, genomic discoveries are revolutionizing science, allowing consumers to acknowledge disease risk factors more accurately, pursue treatment options, and maintain their health. (
  • Critics have cited the "arbitrary nature of the categories" it creates (such as the protected tests listed above) and have predicted that insurers might overlook "clearly relevant information such as family history in their risk assessment," instead relying even more "on current health status when setting rates, even when it has only slight value in predicting future illness. (
  • According to Chen, genomic testing, which is recognized by China's health authorities, is mainly used for the diagnosis and treatment of cancers, but accurately predicting the risk of cancer is difficult. (
  • The Guidelines address genetic testing for variations in germ line DNA sequences or products arising directly from changes in heritable genomic sequences that predict effects on the health, or influence the health management, of an individual. (
  • A crucial issue is the reimbursement of genetic testing by the health insurance companies. (
  • Hopefully, in the near future, health insurance companies that are established in emerging countries may agree to cover the costs of genetic diagnostic testing of their clients, and thus offer this new technology to patients and their at-risk relatives. (
  • The Fisher exact test was used to identify significant differences in information content.Both the advertisements and the brochures emphasized health care and technology information and provided assurances of good health and incentives to self-refer. (
  • Maintaining that breast cancer alone kills some 458,000 people each year, according to the World Health Organization, Angelina Jolie said that it is necessary to ensure that more women can access gene testing and lifesaving preventive treatment. (
  • Elective testing is generally not paid for by health insurance companies. (
  • Predictive toxicology is a discipline that aims to proactively identify adverse human health and environmental effects in response to chemical exposure. (
  • The two tests currently available are Onco type DX (Genomic Health, Redwood City, California) and Prolaris (Myriad Genetic Laboratories, Salt Lake City). (
  • It also might be appropriate for a subset of intermediate-risk men with low-volume disease who might be assigned to active surveillance," said H. Jeffrey Lawrence, MD , Senior Director of Medical Affairs at Genomic Health, at ASCO. (
  • Use of the test tripled the number of patients who were good candidates for active surveillance and identified a smaller number of patients who despite low-risk status had more aggressive disease and were candidates for immediate treatment," stated principal investigator Peter R. Carroll, MD, MPH , Professor and Chair of the Department of Urology at the University of California (UCSF), San Francisco in a news release from Genomic Health. (
  • Genomic Health is in the process of building a dossier of evidence for insurers. (
  • Since its incorporation into clinical care in the US in October 2011, analysis of circulating cell-free (cf) DNA in the plasma of pregnant women -- non-invasive prenatal testing (NIPT) - has revolutionized prenatal screening and diagnosis for fetal chromosome abnormalities. (
  • As one of the leaders of the clinical introduction of genetic testing for breast and colon cancer over the past decade, Dr. Offit argues for the cautious introduction of new whole genome testing, preferably in the setting of ongoing clinical trials. (
  • most of the competency projects mentioned above predated the era of whole-exome/whole-genome sequencing, which has only been possible on a clinical basis for the past year or two yet is likely to become the mainstay of testing in the next few years. (
  • Whole genome sequencing (WGS) will be used to test baseline and follow-up marrow cell DNA, seeking copy number variations in chromosomes 1 and 2 or 22, and structural variations in chromosomes 11 and 14, consistent with the known genetic abnormalities in AL and with clonal LC gene use. (
  • The companies claim that the tests can predict heart disease, most forms of cancer, diabetes, Alzheimer's disease and even obesity. (
  • They are relevant to tests for heritable DNA variants that predict the response profile of an individual to a drug or course of therapy and that affect susceptibility to disease, patient prognosis, counselling, treatment and family planning. (
  • Pharmacogenomic tests (also called pharmacogenetics) provide information that can help predict how an individual will respond to a medication. (
  • In his JAMA commentary, Dr Offit offers several caveats and recommendations to help doctors and counselors as they consider offering these research-based tests in clinical practice. (
  • Dr Offit voices concerns about the scientific accuracy of some of these tests, because they have not yet been validated in forward looking (prospective) clinical studies. (
  • According to Dr. Offit, this limits the sources of information available to consumers about these tests and their accuracy from those marketing the tests. (
  • Dr. Offit also expresses apprehension that once these self ordered test results are relayed, individuals receiving the results may not also receive counseling regarding appropriate medical interventions for prevention and early detection of genetic disorders. (
  • The workshop was structured around exploration of four case studies followed by discussions focused on developing an actionable "reimbursement policy" strategy for genetic and genomic tests. (
  • With its Oncotype IQ ® Genomic Intelligence Platform, the company is applying its world-class scientific and commercial expertise and infrastructure to lead the translation of clinical and genomic big data into actionable results for treatment planning throughout the cancer patient journey, from diagnosis to treatment selection and monitoring. (
  • For the purpose of this study, PGT was defined as the use of genome-based testing to assess a person's risk, or susceptibility, of developing a disorder with either a known or suspected genetic component. (
  • Primary and secondary outcome measures The primary outcome variable was the willingness to undergo genetic testing to determine the risk of salt-sensitive hypertension, and the secondary variables were age, sex, education level, family history and concerns about hypertension. (
  • Analysis of lay attitudes and risk perceptions of German lay people on genetic testing with a special focus on how they deal with the numerical information. (
  • The researchers concluded that although the tests can suggest a higher level of risk, they fail to prompt changes that could reduce those risks. (
  • Further, it must be participative, because patients, their at-risk relatives, and the potential consumers of genetic testing should be aware of the pros and cons of this new technology. (
  • In addition, an adult positive-mutation carrier may have several at-risk children to be tested. (
  • Carrier testing is typically offered to individuals who are considering pregnancy or are already pregnant, have a family history of a specific genetic disorder and to people in ethnic backgrounds that have an increased risk of specific genetic conditions. (
  • When the team analyzed whether women benefited from CT, they found that women in the group of RS 11 to 25 were not impacted by integrating clinical risk to genomic risk. (
  • Both tests can identify which low-risk patients are "truly" at low risk and can be managed by active surveillance and which ones should seek immediate treatment. (
  • A genomic prostate score ranging from 0 to 100 is derived from the prostate specimen to determine the level of risk. (
  • The [genomic prostate score] helps assign men with newly diagnosed low-risk prostate cancer to active treatment or not. (
  • Patients with type II EC have a high relapse risk and poor prognosis, particularly those belonging to the 'copy number high' EC genomic subgroup [ 2 ]. (
  • By adding Guardant360, the rate of detection increased by 48 percent, from 60 patients to 89 patients, which included those whose samples were negative by tissue (7), not tested (16), or did not have enough material (6) for the tissue-based tests. (
  • GARD - Genomic Allergen Rapid Detection - is a next-generation, animal-free testing strategy framework for assessment and characterization of chemical sensitizers. (
  • Since completion of the sequencing of the human genome, the power of the genetic-and now the genomic-approach has increased enormously, providing new tools to diagnose and even treat both rare and common genetic conditions. (
  • As the cost of sequencing an entire genome drops to about $1,000-roughly the cost of a typical MRI exam today-suddenly the test will become affordable for millions of people. (