Precision Medicine Terms Glossary: Precision Medicine Terms in 2024
A
Artificial Intelligence
Artificial Intelligence (AI) refers to the simulation of human intelligence in machines.
B
Big Data
Big Data refers to extremely large and complex datasets that are difficult to manage, analyze, and process using traditional data processing techniques.
Biobank
A Biobank is a collection of biological samples and related health information, used for research purposes.
Bioethics
Bioethics is the study of ethical issues arising from advances in biology and medicine.
Bioinformatics
Bioinformatics is the application of computer science and statistics to analyze and interpret biological data.
Biomarker
A Biomarker is a measurable indicator of a normal biological process, disease, or response to treatment.
Biomarkers
Biomarkers are measurable indicators of a biological condition or process, often used to predict, diagnose, or monitor diseases.
C
Cancer Genomics
Cancer Genomics is the study of the genetic changes and alterations that occur in cancer cells.
Cell Therapy
Cell Therapy involves the use of living cells, such as stem cells or immune cells, to treat or prevent diseases.
Chemoinformatics
Chemoinformatics is the application of computer science and information technology to solve problems in the field of chemistry.
Clinical Data
Clinical Data refers to information about patients or individuals obtained during the course of routine clinical care, including medical records, test results, and treatment history.
Clinical Decision Support
Clinical Decision Support provides healthcare professionals with actionable information and knowledge to enhance patient care.
Clinical Decision Support System (Cdss)
A clinical decision support system (CDSS) is a computer-based tool that provides healthcare professionals with evidence-based recommendations and guidelines to aid in clinical decision-making.
Clinical Genomics
Clinical Genomics is the integration of genomic information into clinical care for diagnosis, prognosis, and treatment.
Clinical Trial
A clinical trial is a research study that investigates the effects of new drugs, treatments, or interventions on human subjects.
Clinical Trials
Clinical Trials are research studies that evaluate the safety and efficacy of medical interventions on human subjects.
Cloud Computing
Cloud Computing is the delivery of on-demand computing resources, such as servers, storage, and applications, over the internet.
Companion Diagnostics
Companion Diagnostics are tests that are used to identify whether a patient is likely to respond to a specific targeted therapy.
Crispr-Cas9
CRISPR-Cas9 is a genome editing tool that allows for precise and specific modifications to the DNA sequence.
D
Data Analysis
Data Analysis is the process of inspecting, cleaning, transforming, and modeling data to uncover meaningful patterns, insights, and information.
Data Integration
Data Integration is the process of combining and analyzing data from different sources to generate meaningful insights.
Data Mining
Data Mining is the process of discovering patterns and extracting knowledge from large datasets.
Data Privacy
Data privacy refers to the protection of personal information and the regulation of its collection, storage, and usage.
Data Security
Data Security refers to the measures and protocols implemented to protect data from unauthorized access, alteration, or destruction.
Data Visualization
Data visualization is the representation of data and information in a visual format to facilitate understanding and analysis.
Deep Learning
Deep Learning is a subset of machine learning that uses artificial neural networks to model and understand complex patterns in data.
Diagnostic Biomarker
A Diagnostic Biomarker is a biomarker that can be used to identify the presence of a disease or condition in an individual.
Digital Health
Digital Health refers to the use of digital technologies and data to improve healthcare delivery and patient outcomes.
Dna Sequencing
DNA Sequencing is the process of determining the order of nucleotides in a DNA molecule.
Drug Discovery
Drug Discovery is the process of identifying and developing new therapeutic compounds.
Drug Repurposing
Drug repurposing refers to the identification and development of new uses for existing drugs.
Drug Resistance
Drug resistance is the ability of a microorganism, such as a bacteria or cancer cell, to withstand the effects of a drug that would normally kill or inhibit its growth.
Drug Response
Drug response refers to how a patient's body reacts to a drug, including its efficacy and side effects.
Drug Response Prediction
Drug Response Prediction is the use of genetic and genomic information to forecast an individual's response to a specific drug.
Drug-Drug Interaction
A Drug-Drug Interaction occurs when two or more drugs interact with each other and alter the effects or toxicity of one or both drugs.
E
Electronic Health Record
An Electronic Health Record (EHR) is a digital version of a patient's medical history, maintained by healthcare providers.
Electronic Health Record (Ehr)
An electronic health record (EHR) is a digital version of a patient's medical history, including diagnoses, medications, and test results.
Electronic Medical Record
An Electronic Medical Record (EMR) is a digital version of a patient's medical record, containing clinical data and information about their healthcare encounters.
Epigenetics
Epigenetics is the study of changes in gene expression or cellular phenotype that do not involve alterations in DNA sequence.
Exome Sequencing
Exome sequencing is the targeted sequencing of the protein-coding regions of the genome.
F
Functional Annotation
Functional Annotation is the process of assigning biological function to genes based on experimental evidence or computational predictions.
Functional Genomics
Functional Genomics is the study of how genes work and interact with each other within an organism.
Functional Medicine
Functional Medicine is a personalized approach to healthcare that focuses on identifying and addressing the root causes of illness.
G
Gene Expression
Gene Expression is the process by which information from a gene is used in the synthesis of a functional gene product.
Gene Therapy
Gene Therapy is an experimental approach that aims to treat or prevent disease by introducing genetic material into cells to modify or correct abnormal genes.
Genetic Counseling
Genetic Counseling is a process that helps individuals and families understand and cope with the genetic risk of inherited conditions.
Genetic Engineering
Genetic Engineering is the manipulation of an organism's genes to produce desired traits.
Genetic Epidemiology
Genetic Epidemiology is the study of how genetic factors contribute to the health and disease patterns within populations.
Genetic Testing
Genetic Testing is a laboratory method used to identify changes in genes, chromosomes, or proteins.
Genetic Variant
A genetic variant refers to a difference in DNA sequence compared to a reference.
Genetic Variation
Genetic Variation refers to differences in the DNA sequence among individuals.
Genome Assembly
Genome assembly is the process of piecing together the individual fragments of DNA sequence to reconstruct the complete genome.
Genome Editing
Genome Editing is a group of technologies that enable scientists to change an organism's DNA.
Genome-Wide Association Study
A Genome-wide Association Study (GWAS) is an approach to identify genetic variants associated with a specific trait or disease.
Genome-Wide Association Study (Gwas)
A genome-wide association study (GWAS) is a study that examines the entire genome of a large number of individuals to identify genetic variations associated with a particular trait or disease.
Genomics
Genomics is the study of the entire genetic material of an organism, including genes and non-coding DNA.
Genotype
Genotype refers to the genetic makeup or set of genes present in an organism.
Germline Mutation
A germline mutation is a genetic alteration that is present in the germ cells (i.e., sperm or egg cells) and can be passed on to offspring.
H
Healthcare Analytics
Healthcare Analytics involves the systematic analysis of healthcare data to improve patient outcomes and decision-making.
Hereditary Disease
A hereditary disease is a disorder that is passed down from one generation to another through changes or mutations in genes.
Heritability
Heritability refers to the proportion of phenotypic variance in a population that can be attributed to genetic factors.
Heterogeneity
Heterogeneity is the presence of diverse or dissimilar characteristics within a population or group.
High-Throughput Screening
High-Throughput Screening is a method for rapid and automated testing of large numbers of compounds or genes in various biological assays.
I
Immuno-Oncology
Immuno-oncology is a field of study that focuses on harnessing the body's immune system to fight cancer.
Immunotherapy
Immunotherapy is a type of treatment that harnesses the power of the immune system to recognize and eliminate cancer cells or other disease-causing agents.
Informed Consent
Informed Consent is the process of obtaining permission from an individual for a medical or research procedure after they have been fully informed of the risks and benefits.
Insilico Medicine
InSilico Medicine refers to the use of computer-based approaches, such as computational modeling and simulation, to study biological systems and develop treatment strategies.
L
Liquid Biopsy
A Liquid Biopsy is a non-invasive diagnostic test that detects genetic alterations in circulating tumor DNA.
M
Machine Learning
Machine Learning (ML) is a subset of AI that focuses on getting machines to learn from data.
Metabolomics
Metabolomics is the study of small molecules, known as metabolites, in an organism.
Mutation
A mutation is a permanent change in the DNA sequence that can alter the structure and function of a gene.
N
Network Analysis
Network analysis is the study of complex systems or networks, such as protein-protein interaction networks, to understand their structure and function.
Next-Generation Sequencing
Next-Generation Sequencing is a high-throughput method used to sequence DNA or RNA.
O
Omics
Omics is a collective term used to describe various large-scale biological data sets, such as genomics, proteomics, and metabolomics.
P
Patient Stratification
Patient stratification is the process of dividing a patient population into subgroups based on specific biological or clinical characteristics.
Personalized Medicine
Personalized Medicine is an approach that tailors medical treatment to an individual's unique characteristics.
Pharmaceutical Industry
The Pharmaceutical Industry involves the discovery, development, and manufacture of drugs for use as medications.
Pharmacodynamics
Pharmacodynamics is the study of the physiological effects of drugs and their mechanisms of action.
Pharmacoepidemiology
Pharmacoepidemiology is the study of how drugs are used, their effects on populations, and the factors that influence drug utilization and outcomes.
Pharmacoepigenomics
Pharmacoepigenomics is the study of how epigenetic factors influence an individual's response to drugs.
Pharmacogenetics
Pharmacogenetics is the study of how an individual's genetic makeup influences their response to drugs.
Pharmacogenomic Testing
Pharmacogenomic testing is a type of genetic testing that predicts an individual's response to specific medications based on their genetic makeup.
Pharmacogenomics
Pharmacogenomics is the study of how a person's genes affect their response to drugs.
Pharmacokinetic Variability
Pharmacokinetic variability refers to differences in the rate and extent to which drugs are absorbed, distributed, metabolized, and excreted among individuals.
Pharmacokinetics
Pharmacokinetics is the study of how a drug is absorbed, distributed, metabolized, and excreted by the body.
Pharmacovigilance
Pharmacovigilance is the science and activities related to the detection, assessment, understanding, and prevention of adverse effects or any other drug-related problem.
Phenome-Wide Association Study
A Phenome-wide Association Study (PheWAS) is an approach to identify relationships between genetic variations and a range of phenotypes.
Phenomics
Phenomics is the study of all measurable phenotypes of an organism.
Phenotype
Phenotype refers to an individual's observable characteristics resulting from the interaction between genes and the environment.
Phenotypic Screening
Phenotypic Screening is a drug discovery approach that screens compounds based on their ability to alter a cellular phenotype.
Polygenic Risk Score
A Polygenic Risk Score is a numerical value that estimates an individual's genetic risk for a particular disease.
Population Genetics
Population Genetics is the study of genetic variation and evolutionary processes within populations.
Population Health
Population Health refers to the health outcomes, patterns of health determinants, and policies that impact the health of a specific population.
Precision Medicine
Precision Medicine is an approach to healthcare that takes into account individual variability in genes, environment, and lifestyle for each person.
Prognostic Biomarker
A Prognostic Biomarker is a biomarker that provides information about the likely course of a disease or the likelihood of treatment success.
Proteomics
Proteomics is the study of all the proteins produced by a cell, tissue, or organism.
R
Regulatory Genomics
Regulatory Genomics is the study of how genes are regulated and controlled by non-coding regions of the genome.
S
Single Nucleotide Polymorphism
A Single Nucleotide Polymorphism (SNP) is a variation at a single position in a DNA sequence among individuals.
Single-Cell Analysis
Single-Cell Analysis is a method for studying individual cells, enabling the investigation of cellular heterogeneity and the identification of rare cell types.
Single-Nucleotide Polymorphism
A Single-Nucleotide Polymorphism (SNP) is a variation at a single position in a DNA sequence.
Single-Nucleotide Polymorphism (Snp)
A single-nucleotide polymorphism (SNP) is a variation at a single position in a DNA sequence.
Somatic Mutation
A somatic mutation is a genetic alteration that occurs in non-germline cells and is not inherited by future generations.
Structural Variant
A structural variant is a variation in the DNA structure, such as insertions, deletions, duplications, or inversions, that can affect gene function or expression.
Systems Biology
Systems Biology is an interdisciplinary field that studies and models complex biological systems.
T
Targeted Therapy
Targeted Therapy is a type of treatment that uses drugs or other substances to identify and attack specific cancer cells.
Telehealth
Telehealth refers to the use of telecommunications technology to deliver healthcare services, education, and information remotely.
Telemedicine
Telemedicine is the remote delivery of healthcare services, including medical consultations, diagnosis, and treatment, using telecommunications technology.
Therapeutic Biomarker
A Therapeutic Biomarker is a biomarker that indicates the likelihood or potential response of an individual to a specific treatment or therapeutic intervention.
Transcriptomics
Transcriptomics is the study of all the RNA molecules transcribed from a genome.
Translational Research
Translational Research bridges the gap between scientific discoveries and their application in clinical practice.
V
Variant
A variant refers to a difference in the DNA sequence compared to a standard or reference sequence.
Variant Calling
Variant calling refers to the process of identifying genetic variations, such as single-nucleotide polymorphisms (SNPs) and small insertions or deletions (indels), from genomic sequencing data.