Term Definition Examples of Techniques Used
Personalized medicine “The tailoring of medical treatment to the individual characteristics of each patient”10
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
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
RMMJ Rambam Maimonides Medical Journal Rambam Health Care Campus 2014 January; 5(1): e0002. ISSN: 2076-9172
Published online 2014 January 21. doi: 10.5041/RMMJ.10136.