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Glossary

of Significant Concepts in Data-Driven Solutions for Medical Research, Diagnostics, Health Science, Clinical Studies, and Precision Medicine

This glossary compiles 100 essential concepts, technical terms, methods, and abbreviations pivotal to understanding the landscape of data-driven solutions in medical research, diagnostics, health science, clinical studies, and precision medicine. It serves as a foundational resource for professionals navigating these interconnected fields.

This glossary provides a broad overview of the key terms and concepts that are foundational to the fields of medical research, diagnostics, health science, clinical studies, and precision medicine. It is intended to serve as a resource for professionals and students alike to deepen their understanding of these complex and rapidly evolving disciplines.

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3D Echocardiography: Also known as 3D Echo, this technique provides three-dimensional images of the heart, improving the assessment of cardiac function and anatomy, particularly valuable for diagnosing heart diseases and guiding heart surgery.

3D Ultrasound: An imaging technique that generates three-dimensional images of the fetus in utero, providing detailed anatomical information for prenatal diagnosis and treatment planning.

4D CT: An extension of 3D CT imaging that incorporates time as the fourth dimension, allowing for the visualization of dynamic processes within the body, such as blood flow and heart valve movements.

A

ACR (American College of Radiology): An organization that provides accreditation, research, and education in the field of radiology to improve patient care.

ADME (Absorption, Distribution, Metabolism, and Excretion): The pharmacokinetic properties of drugs that determine their overall effect and duration within the body.

AI (Artificial Intelligence): The simulation of human intelligence processes by machines, especially computer systems, applied in healthcare for diagnostics, treatment recommendations, and patient monitoring.

Algorithm: A set of rules or instructions given to an AI or machine learning model to perform data processing, calculations, or automated reasoning tasks.

ANOVA (Analysis of Variance): A statistical method used to compare the means of three or more samples to understand if at least one sample mean is different from the others.

API (Application Programming Interface): A set of protocols and tools for building software and applications, enabling different healthcare systems to communicate and share data.

B

Big Data: Extremely large data sets that may be analyzed computationally to reveal patterns, trends, and associations, especially relating to human behavior and interactions, crucial in health informatics

Bioinformatics: The application of computational tools and techniques to the capture and interpretation of biological data, often applied in genomics and proteomics.

Biomarker: A biological molecule found in blood, other body fluids, or tissues, indicating a normal or abnormal process, or a condition or disease.

Biostatistics: The application of statistics to a wide range of topics in biology, including the planning, analysis, and interpretation of data from biological research.

Biospecimen: Samples of biological material, such as urine, blood, tissue, cells, DNA, RNA, and proteins, used for diagnostic or research purposes.

Bioprinting: A form of 3D printing that uses bioinks made of living cells to create tissue-like structures that imitate natural tissues, used in tissue engineering and regenerative medicine.

Blockchain: A system of recording information in a way that makes it difficult or impossible to change, hack, or cheat, with potential applications in securing patient data.

C

Clinical Decision Support Systems (CDSS): Computer-based programs that analyze data within EHRs to provide recommendations to healthcare providers for patient care.

Clinical Trials: Research studies performed on people that are aimed at evaluating a medical, surgical, or behavioral intervention.

Clustering: A machine learning technique that involves grouping data points in such a way that objects in the same group are more similar to each other than to those in other groups.

Cone Beam CT (CBCT): A variation of traditional computed tomography (CT) that uses a cone-shaped X-ray beam to produce detailed three-dimensional images of the bone structure, particularly useful in dental and maxillofacial surgery.

CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats): A genome editing technology that allows researchers to easily alter DNA sequences and modify gene function.


CRISPR-Cas9: A unique technology that enables geneticists and medical researchers to edit parts of the genome by removing, adding, or altering sections of the DNA sequence.

Cross-Validation: A model validation technique for assessing how the results of a statistical analysis will generalize to an independent data set.

CGH (Comparative Genomic Hybridization): A molecular cytogenetic method for analyzing copy number variations (CNVs) relative to ploidy level in the DNA of a test sample compared to a reference sample, without the need for culturing cells.

CT Scan (Computed Tomography Scan): A diagnostic imaging technique that uses a combination of X-rays and computer technology to produce cross-sectional images (often called slices) of the body.

CRP (C-Reactive Protein): A blood test marker for inflammation in the body, which can indicate conditions such as infections and chronic diseases.

Custom Implants and Prosthetics: The use of 3D printing technology to create patient-specific implants and prosthetic devices based on individual anatomical data, improving the fit and function of these devices.

D

Data Integration: The process of combining data from different sources to provide a unified view, often used in healthcare to combine data from various electronic health records (EHRs).

Data Mining: The practice of examining large databases to generate new information and identify patterns, trends, and relationships in health data.

Deep Learning: A subset of machine learning in AI that has networks capable of learning unsupervised from data that is unstructured or unlabeled.

Dental 3D Printing: The application of 3D printing in dentistry to create dental implants, crowns, bridges, dentures, and orthodontic devices tailored to the specific measurements of a patient's oral cavity.

Digital Health: The convergence of digital technologies with health, healthcare, living, and society to enhance the efficiency of healthcare delivery and make medicines more personalized and precise.

DNA Sequencing: The process of determining the nucleic acid sequence – the order of nucleotides in DNA.

DNA Microarrays: A technology used to measure the expression levels of large numbers of genes simultaneously or to genotype multiple regions of a genome.

Dx (Diagnosis): The identification of the nature and cause of a certain phenomenon, which in healthcare refers to the determination of a disease or condition.

E

EHR (Electronic Health Record): A digital version of a patient’s paper chart, making information available instantly and securely to authorized users.

Epidemiology: The study and analysis of the distribution, patterns, and determinants of health and disease conditions in defined populations.

Epigenetics: The study of changes in organisms caused by modification of gene expression rather than alteration of the genetic code itself.

ePRO (Electronic Patient-Reported Outcomes): Electronic systems that collect data reported directly by patients about how they feel or function in relation to a health condition or its therapy.

ELISA (Enzyme-Linked Immunosorbent Assay): A plate-based assay technique designed for detecting and quantifying substances such as peptides, proteins, antibodies, and hormones.

EMR (Electronic Medical Record): A digital version of the traditional paper-based medical record for an individual, representing a medical record within a single facility, such as a doctor's office or a clinic.

F

FDA (Food and Drug Administration): The U.S. federal agency responsible for protecting and promoting public health through the control and supervision of food safety, tobacco products, dietary supplements, prescription and over-the-counter pharmaceutical drugs, vaccines, biopharmaceuticals, medical devices, and more.

FHIR (Fast Healthcare Interoperability Resources): A standard describing data formats and elements and an application programming interface for exchanging EHRs.

Functional Genomics: The study of the relationship between genes and their function, particularly in the context of pathways and networks.

FACS (Fluorescence-Activated Cell Sorting): A specialized type of flow cytometry that enables a researcher to sort a heterogeneous mixture of cells into two or more groups, one cell at a time, based on the specific light scattering and fluorescent characteristics of each cell.

fMRI (Functional Magnetic Resonance Imaging): An imaging technique used to measure and map brain activity through changes in blood flow.

G

Genomics: The study of genomes, the complete set of DNA within a single cell of an organism, including its structure, function, evolution, and mapping.

GCP (Good Clinical Practice): An international quality standard that is provided by ICH (International Council for Harmonisation), governing clinical trials on human subjects.

GWAS (Genome-Wide Association Studies): Studies that involve scanning complete sets of DNA, or genomes, of many participants to find genetic variations associated with a particular disease.

H

Health Informatics: The interdisciplinary study of the design, development, adoption, and application of IT-based innovations in healthcare services delivery, management, and planning.

HL7 (Health Level Seven International): A set of international standards for the exchange, integration, sharing, and retrieval of electronic health information.

HRV (Heart Rate Variability): The physiological phenomenon of variation in the time interval between heartbeats, used as an indicator of the autonomic nervous system's activity.

HbA1c (Hemoglobin A1c): A test that measures the average levels of blood glucose (sugar) over the past 3 months, used to diagnose and monitor diabetes.

HLA Typing (Human Leukocyte Antigen Typing): A test that identifies the major histocompatibility complex proteins in the body, important for organ transplantation compatibility.

I

Immunotherapy: Treatment that uses certain parts of a person’s immune system to fight diseases such as cancer.

IoT (Internet of Things): The network of physical objects—“things”—that are embedded with sensors, software, and other technologies for the purpose of connecting and exchanging data with other devices and systems over the internet, applicable in remote patient monitoring.

ICU (Intensive Care Unit): A special department of a hospital or health care facility that provides intensive treatment medicine.

IHC (Immunohistochemistry): A method for detecting antigens (e.g., proteins) in cells of a tissue section by exploiting the principle of antibodies binding specifically to antigens in biological tissues.

M

Machine Learning: A subset of AI that provides systems the ability to automatically learn and improve from experience without being explicitly programmed.

mHealth (Mobile Health): Medical and public health practice supported by mobile devices, such as mobile phones, for health services and information.

Microbiome: The collective genomes of the microorganisms (composed of bacteria, bacteriophage, fungi, protozoa, and viruses) that live inside and on the human body.

IoMT (Internet of Medical Things): A collection of medical devices and applications that connect to healthcare IT systems through online computer networks.

mRNA (Messenger RNA): A single-stranded RNA molecule that is complementary to one of the DNA strands of a gene, used in some vaccines to trigger an immune response.

MALDI-TOF MS (Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry): An analytical technique used to identify and sequence biomolecules and to diagnose diseases.

MRI (Magnetic Resonance Imaging): A technique that uses a magnetic field and radio waves to create detailed images of the organs and tissues within the body.

MRI 3D Reconstruction: The process of creating three-dimensional models from the two-dimensional slice data acquired through MRI scans, enhancing the visualization of complex anatomical structures.

N

Nanotechnology: The manipulation of matter on an atomic, molecular, and supramolecular scale, potentially useful in various medical applications, including drug delivery and diagnostics.

NLP (Natural Language Processing): The ability of a computer program to understand human language as it is spoken and written, referred to as natural language, used in analyzing patient records and literature.

NGS (Next-Generation Sequencing): A method used to sequence DNA and RNA much more quickly and cheaply than the previously used Sanger sequencing, and is a key component of genomics research.

NMR (Nuclear Magnetic Resonance): A spectroscopic technique to observe local magnetic fields around atomic nuclei, used in advanced medical imaging to provide detailed images of the human body.

O

Omics: A field of study in biology ending in -omics, such as genomics, proteomics, or metabolomics, that involves the collective characterization and quantification of pools of biological molecules that translate into the structure, function, and dynamics of an organism or organisms.

Orthopedic 3D Printing: The use of 3D printing to manufacture orthopedic implants, such as knee and hip joints, customized to fit the unique anatomy of individual patients, enhancing the success rates of orthopedic surgeries.

P

Personalized Medicine: A medical model using characterization of individuals’ phenotypes and genotypes (e.g., molecular profiling, medical imaging, and lifestyle data) to tailor the right therapeutic strategy for the right person at the right time.

Pharmacogenomics: The study of how genes affect a person’s response to drugs, combining pharmacology and genomics to develop effective, safe medications and doses tailored to a person’s genetic makeup.

Pharmaceutical 3D Printing: The production of drugs and drug delivery devices through 3D printing, allowing for personalized medicine with customized dosages and release profiles based on individual patient needs.

Precision Medicine: An approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.

Predictive Analytics: The use of data, statistical algorithms, and machine learning techniques to identify the likelihood of future outcomes based on historical data.

Patient-Centric Care: A way of thinking about healthcare that deeply respects and responds to the preferences, needs, and values of patients.

Proteomics: The large-scale study of proteomes, a set of proteins produced in an organism, system, or biological context.

PCR (Polymerase Chain Reaction): A method widely used in molecular biology to rapidly make millions to billions of copies of a specific DNA sample, allowing scientists to take a very small sample of DNA and amplify it to a large enough amount to study in detail.

PET (Positron Emission Tomography): An imaging test that helps reveal how your tissues and organs are functioning, often used to detect cancer, heart problems, and brain disorders.

Q

QoL (Quality of Life): An individual's perception of their position in life in the context of the culture and value systems in which they live and in relation to their goals, expectations, standards, and concerns. It's a broad concept affected in a complex way by the person's physical health, psychological state, level of independence, social relationships, personal beliefs, and their relationship to salient features of their environment.

Quantitative Analysis: The use of mathematical and statistical modeling, measurement, and research that aims to understand or predict behavior or events through numerical data.

R

Randomized Controlled Trial (RCT): A study design that randomly assigns participants into an experimental group or a control group to measure the effect of an intervention.

Real-World Data (RWD): Data relating to patient health status and/or the delivery of health care routinely collected from a variety of sources.

Real-World Evidence (RWE): Clinical evidence regarding the usage and potential benefits or risks of a medical product derived from analysis of RWD.

Regenerative Medicine: A branch of translational research in tissue engineering and molecular biology which deals with the process of replacing, engineering, or regenerating human cells, tissues, or organs to restore or establish normal function.

RNA-Seq (RNA Sequencing): A next-generation sequencing (NGS) method that provides the ability to look at alternative gene spliced transcripts, post-transcriptional modifications, gene fusion, mutations/SNPs and changes in gene expression over time, or differences in gene expression in different groups or treatments.

S

Single-Cell Sequencing: A next-generation sequencing technology that allows for the sequencing of individual cells, providing a higher resolution of cellular differences and a better understanding of the function of an individual cell in the context of its microenvironment.

SNP (Single Nucleotide Polymorphism): A DNA sequence variation occurring when a single nucleotide in the genome differs between members of a biological species or paired chromosomes in an individual.

Surgical Guides and Models: 3D printed tools and anatomical models customized for individual patients, used by surgeons for planning and practicing complex surgical procedures before performing them on the patient.

Synthetic Biology: An interdisciplinary branch of biology and engineering, the development of new biological parts, devices, and systems, or the re-design of existing, natural biological systems for useful purposes.

Systems Biology: An approach in biology that focuses on complex interactions within biological systems, with the aim of understanding how these interactions give rise to the function and behavior of that system.

SNV (Single Nucleotide Variant): A variation in a single nucleotide that occurs at a specific position in the genome, known to be a common type of genetic variation among people.

SPECT (Single Photon Emission Computed Tomography): A nuclear medicine tomographic imaging technique using gamma rays, which provides true 3D information.

T

Telehealth: The distribution of health-related services and information via electronic information and telecommunication technologies. It allows long-distance patient and clinician contact, care, advice, reminders, education, intervention, monitoring, and remote admissions.

Transcriptomics: The study of the transcriptome—the complete set of RNA transcripts that are produced by the genome, under specific circumstances or in a specific cell—using high-throughput methods, such as microarray analysis.

Translational Medicine: A rapidly growing discipline in biomedical research that aims to expedite the discovery of new diagnostic tools and treatments by using a multi-disciplinary, highly collaborative, "bench-to-bedside" approach.

TDM (Therapeutic Drug Monitoring): The clinical practice of measuring specific drugs at designated intervals to maintain a constant concentration in a patient's bloodstream, thereby optimizing individual dosage regimens.

Tissue Microarray: A technology that allows for the simultaneous analysis of multiple tissue samples, often used in cancer research.

U

US (Ultrasound): An imaging method that uses high-frequency sound waves to produce images of structures within your body, commonly used for diagnosing and monitoring medical conditions.

V

Variant of Concern (VoC): A term used in genomics, especially in the context of infectious diseases, to describe a genetic variant that may have an impact on disease spread, disease severity, vaccine and treatment efficacy, or diagnostic accuracy.

Virology: The study of viruses and viral diseases, including the distribution, biochemistry, physiology, molecular biology, ecology, evolution, and clinical aspects of viruses.

Virtual Health: The use of enabling technology, such as telehealth and telemedicine, to deliver health services in a way that is independent of time or location.

VUS (Variant of Uncertain Significance): A term used in genetic testing to describe a variation in a genetic sequence for which the significance to the disease process is not known.

W

Wearable Technology: Devices worn by individuals that collect data related to health and fitness, which can be used for monitoring physiological data, such as heart rates, sleep patterns, and physical activity.

WGS (Whole Genome Sequencing): The process of determining the complete DNA sequence of an organism's genome at a single time.

X

Xenotransplantation: The transplantation of living cells, tissues, or organs from one species to another, such as from pigs to humans, a field of research for addressing organ transplant shortages.

X-Ray: A quick, painless test that produces images of the structures inside your body, particularly your bones.

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