| Personalized medicine |
“The tailoring of medical treatment to the individual characteristics of each patient”10 |
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| Genomics |
“The study of all of a person’s genes (the genome), including interactions of those genes with each other and with the person’s environment”117 |
Genome-wide association studies |
| Genome-wide association study (GWAS) |
“An approach used in genetics research to look for associations between many (typically hundreds of thousands) specific genetic variations (most commonly single-nucleotide polymorphisms) and particular diseases”118 |
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| Epigenetics |
“Changes in gene expression and cellular phenotypes that are mitotically stable but that occur without accompanying changes in primary DNA sequence”22 |
Studies of gene methylation patterns |
| Transcriptomics |
“The quantitative study of all genes expressed in a given biological state”25 |
Gene expression microarrays; RNA sequencing25 |
| Proteomics |
Large-scale analysis of all the proteins in an organism, tissue type, or cell (called the proteome). Proteomics can be used to reveal specific, abnormal proteins that lead to diseases |
Matrix-assisted laser desorption/ionization28; mass spectroscopy; electrospray ionization29 |
| Metabolomics (metabolic profiling) |
“Measurements of the metabolome, which represents the entire collection of all small-molecule metabolites present in any biological organism”36 |
Nuclear magnetic resonance; mass spectrometry36 |
| Pharmacogenomics |
“Pharmacogenomics is the study of an individual’s interaction with a specific drug based upon the genetic make-up of the individual”39 |
“Pharmacogenomics studies the influence of genetic variations on the patient’s response to specific drugs, such as the correlation between the efficacy or toxicity of a certain drug and a specific gene expression or a single-nucleotide polymorphism”39 |
| Bioinformatics |
“Information technology as applied to the life sciences, especially the technology used for the collection and analysis of genomic data”118 |
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