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Glossary
Pages 253-268

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From page 253...
... Allelic variant -- an alteration in the normal sequence of a gene, the significance of which is often unclear until further study of the genotype and corresponding phenotype occurs in a sufficiently large population. Complete gene sequencing often identifies numerous allelic variants (sometimes hundreds)
From page 254...
... Bias -- the systematic but unintentional erroneous association of some characteristic with a group in a way that distorts a comparison with another group. Bioinformatics -- a field of study focused on developing fast, efficient computational procedures for data reduction, data mining, and literature search techniques and developing biologically informative annotations related to DNA/RNA sequence, gene/protein expression, or the interaction of pathways, networks, phenotypes, and druggable targets.
From page 255...
... Participants, caregivers, outcome assessors, and analysts are all candidates for being blinded. Blinding of certain groups is not always possible; for example, if treatment involves active patient participation, such as attending a therapy session, the participant cannot be blinded to the type of treatment provided.
From page 256...
... Clinical trial -- a formal study carried out according to a prospectively defined protocol that is intended to discover or verify the safety and effectiveness of procedures or interventions in humans. Clinical utility -- evidence of improved measurable clinical outcomes, and a test's usefulness and added value to patient management decision making compared with current management absent testing.
From page 257...
... Current Procedural Terminology (CPT®) -- a listing of descriptive terms and identifying codes for reporting medical services and procedures, designed to standardize the terminology used for medical, surgical, and diagnostic services.
From page 258...
... DNA sequence information is important to investigating the functions of genes. Enrichment trial design -- the only patients entered into the clinical trial are those with positive test results at screening.
From page 259...
... applicant must show that the medical device is "substantially equivalent" to a device that is already legally marketed for the same use. Fluorescence in situ hybridization (FISH)
From page 260...
... Human epidermal growth factor receptor 2 (HER2) -- a growth factor receptor that is used as a breast cancer biomarker for prognosis and treatment with the drug trastuzumab (Herceptin)
From page 261...
... -- a Food and Drug Administration designation that allows an investigational device to be used in a clinical study to collect safety and effectiveness data supporting a premarket approval application or a premarket notification submission. Laboratory-developed tests (LDTs)
From page 262...
... Metabolome -- the complete set of small-molecule metabolites found with a biological sample (including metabolic intermediates in carbohydrate, lipid, amino acid, nucleic acid, and other biochemical pathways, along with hormones and other signaling molecules, as well as exogenous substances, e.g., drugs and their metabolites)
From page 263...
... Overfitting -- occurs when the model-fitting process unintentionally exploits characteristics of the data that are due to noise, experimental artifacts, or other chance effects that are not shared among datasets, rather than to the underlying biology that is shared among datasets. Pathway biomarker -- a biomarker that can be detected in one or several key steps along a biochemical pathway that may be perturbed in cancer cells.
From page 264...
... -- a highly sensitive technique that uses radioactive probes to image in vivo tumors, receptors, enzymes, DNA replication, gene expression, antibodies, hormones, drugs, and other compounds and processes. Precision medicine -- tailoring of medical treatment to the individual characteristics of each patient to classify individuals into subpopulations that differ in their susceptibility to a particular disease or their response to a specific treatment.
From page 265...
... Prospective clinical trial -- a clinical trial in which patients are identified and then followed forward in time. Prospective–retrospective clinical study -- an analysis using archived specimens from previously conducted prospective clinical trials that addressed the intended clinical use of the test.
From page 266...
... -- a measure of how often a test correctly identifies patients with a specific diagnosis. It is calculated as the number of truepositive results divided by the number of true-positive plus false-negative results.
From page 267...
... Such validation is particularly important because omics-based tests typically involve computational models whose parameters can be "overfit" in any single dataset, leading to an overly optimistic sense of the test's accuracy. Statistical significance -- a result that is unlikely to have happened by chance.
From page 268...
... Trastuzumab -- see human epidermal growth factor receptor 2 (HER2)


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