Glossary
Biomarker
Characteristic that can be objectively measured and evaluated as an indicator of normal biologic processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention.
Genome
Entirety of an organism's hereditary information as encoded either in DNA or, for many virus types, in RNA. Leaving mutations aside, the genome is fairly static for any given cell line.
Genomics
Study of the genome of a biological organism. It includes efforts to determine the entire DNA sequence of organisms and fine-scale genetic mapping efforts. Research of single genes does not fall within the definition of genomics, unless its aim is to elucidate the effect of a gene on, its place in, and its response to the entire genome’s networks.
Mass spectrometry
Analytical technique for the determination of the elemental composition of samples or molecules. The technology consists of ionizing chemical compounds to generate charged molecules or molecule fragments and measuring their mass-to-charge ratios. It has both qualitative and quantitative uses. Qualitative uses include identifying unknown compounds or determining the isotopic composition of elements in a molecule. Quantitative uses include quantifying the amount of a compound in a sample.
Metabolome
Sum of all small-molecule metabolites, e.g., metabolic intermediates, hormones, and other signaling molecules, of a biological organism. By definition, the metabolome should exclude enzymes, genetic material, and structural molecules, such as glycosaminoglycans, and other polymeric units that are degraded to small molecules but do not otherwise participate in metabolic reactions.
Metabolomics
Study of the metabolome of a biological organism. Metabolomics provides a functional readout of changes determined by the genetic blueprint, regulation, protein abundance and modification, and environmental influences.
Personalized medicine
Personalized medicine uses new methods of molecular analysis to better manage a patient’s disease or predisposition toward a disease. It aims to achieve optimal medical outcomes by helping physicians and patients choose the disease management approaches likely to work best in the context of a patient’s genetic and environmental profile. Such approaches may include genetic screening programs that more precisely diagnose diseases and their subtypes or help physicians select the type and dose of medication best suited to a certain group of patients.
Predictive biomarker
Biomarker predicting which patients are likely to benefit from a drug. Predictive biomarkers require comparison of a drug effect in marker-positive and marker-negative patients.
Prognostic biomarker
Biomarker indicating the aggressiveness of a disease. Prognostic biomarkers are indicative of patient outcome but are not used to predict the effect of a therapeutic intervention.
Proteome
Sum of all proteins produced by a given species at a certain point in time. Unlike the genome, which is fairly static for a given cell line, the proteome varies with time.
Proteomics
Study of the proteome of a biological organism. In addition to proteins, peptides (low molecular weight proteins) can also be detected by proteomic technologies. Unlike genomics, which provides only a static snapshot of the various ways in which the cell might use its proteins, proteomics reflects the variations proteins are subject to with time and changing conditions.
Systems biology
Computational integration of data generated from genomics, transcriptomics, proteomics, and metabolomics. By adding to our current understanding of the health and disease continuum, system biology is thought to lead new opportunities for personalized medicine.
Transcriptome
Sum of all RNA molecules produced in a given cell or cell population. Unlike the genome, which is fairly static for a given cell line, the transcriptome can vary with environmental conditions.
Transcriptomics
Study of the transcriptome of a biological organism. Transcriptomics, or expression profiling, assesses the expression level of RNAs in a cell population and provides information on the relative amounts of RNA. However, RNA levels are not directly proportional to the expression level of the proteins they code for. Also, many transcripts are translated into more than one protein, and many proteins form complexes with other proteins and only function in their presence.
