Table 1.
Definitions of Basic Science Techniques Utilized in Precision Medicine
| Genomics | The study of the entire complement or strategic sequences of genetic material. |
| Genome-Wide Association Studies (GWAS) | A form of study in which the researcher simultaneously probes all segments of the genome for evidence of association between single nucleotide polymorphisms and disease. |
| Exome Studies | Studies focused on the protein coding regions of the genome. Exome analyses focus on rare variants that are likely to be functional. This is in contrast to GWAS, which focuses on common variants that may or may not be related to functional proteins. |
| Epigenetics | The study of the regulation of gene activity by reversible modifications such as methylation of deoxyribonucleic acids (DNA). |
| Transcriptomics | The quantification of the relative levels of messenger ribonucleic acids (RNA) for a large number of genes in specific cells or tissues to measure differences in the expression levels of different genes. |
| Proteomics | The study of a comprehensive number of proteins, the products of gene transcription (including their expression and/or post-translational modifications). |
| Metabolomics | The study of a comprehensive number of small molecules (such as fatty acids, carbohydrates, and glycoproteins) that are the terminal downstream products of cellular processes. |
| Microbiomics | The study of the gut flora and their relative constituents by quantification of bacterial genomics. |
| Pharmaco-(genomics/proteomics/metabolomics) | The use of the aforementioned technologies to choose therapy, with the goal of maximizing efficacy and safety of therapy. |