Table 1 –

Selected Current and Emerging Genomic Concepts and Terminology

Term	Definition
Artificial intelligence (AI)	An umbrella term lacking formal definition that encapsulates the abilities of computers to sense, reason, act and adapt without being programmed to do so (NIH, 2018). AI technologies are increasingly being used to combine omic data with clinical information in electronic health records.
Machine learning (ML)	Type of AI that uses algorithms whose performance improves as more data are used over time (NIH, 2018).
Deep learning (DL)	A subset of ML in which multilayered neural networks learn from vast amounts of data (NIH, 2018).
Big data	An emerging paradigm and health care ecosystem characterized by large-scale volume, variety, and velocity of biomedical data fields, types, structures, and processes (Luo et al., 2016). Examples include genetic/genomic sequence, cancer tumor expression data, electronic health record information, imaging/radiology data, clinical transcription patient notes, and many others.
Genomic medicine (health care)	Emerging health care discipline that involves use of genomic information about a patient as part of their clinical care and the health outcomes and policy implications of that clinical use (NHGRI, 2020d).
Omics	Scientific field associated with the measurement and analysis of large number of molecular measurements within a tissue or a cell (National Academies of Sciences Engineering, and Medicine, 2012).
Genomics	Study of all of a person’s genes (the genome), including interactions of those genes with each other and with the person’s environment (NHGRI, 2020e).
Metabolomics	The study of complete sets of small molecule metabolites and any relevant metabolic intermediates within a biological sample including carbohydrates, amino acids, lipids, nucleic acids, drug metabolite products, signaling molecules and others (National Academies of Sciences Engineering, and Medicine, 2012).
Microbiome	The interaction, function and structure of micro-organisms living in and on the human body (Regan et al., 2018).
Proteomics	The study of proteins expressed by an organism, tissue, or cell (National Academies of Sciences Engineering, and Medicine, 2012).
Transcriptomics	The study of complete sets of RNA transcripts from DNA in a cell or tissue, such as ribosomal RNA (rRNA), messenger RNA (mRNA), transfer RNA (tRNA), micro RNA (miRNA), and noncoding RNA (ncRNA), and others (National Academies of Sciences Engineering, and Medicine, 2012).
Precision medicine	An emerging approach for targeted disease prevention and treatment that takes into account people’s individual variations in genes, environment and lifestyle (Collins & Varmus, 2015).
Precision health	An approach that builds on precision medicine and includes targeted prevention and health promotion activities that work best for each unique person outside the setting of a doctor’s office or hospital, including evaluation of information from: family health history, personal smart devices and mobile health applications, social media and others (CDC, 2019).
Precision public health	An expansion of precision medicine that extends to beyond the individual to entire populations: delivering the “right intervention at the right time to the right population,” (CDC, 2018).