Sorry, you need to enable JavaScript to visit this website.

Skip to main content


Precision Medicine Glossary

Precision Medicine Glossary

The list below is not intended to be an exhaustive compendium of precision medicine (PM) terminology, but seeks to explain many terms used on our site and other vehicles that discuss this field.

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

Clinical utility (of a Dx): The ability of a diagnostic to meaningfully influence treatment decisions.

Companion diagnostic: A diagnostic test mentioned in a drug or device label and required for its approval and use

Complementary diagnostic (CoDx): A diagnostic test that is associated with but not required for approval or use of a drug

Diagnostic (Dx): Tool or technology that delivers information to make better treatment decisions. Can be an assay, imaging, an algorithm, a remote monitoring device, etc.

Diagnostics and precision medicine: Information for making better treatment decisions that identifies specific patients, for a specific treatment solution, at a specific time

Disease Interception: Detection of asymptomatic disease or predisposition to disease

Disease Monitoring: Understand the course of disease or effect of therapy to evaluate success or failure and potential to need revised therapy

Dx adoption/uptake: The rate at which health care providers acquire the necessary capabilities (i.e. equipment, training) to administer a diagnostic assay (to be distinguished from the testing rate – the percentage of disease prevalent patients who received a Dx test)

Genomics: The study of an organism’s complete genetic material, including genes and their functions

Genomic sequencing: A laboratory method used to determine the entire genetic makeup of a specific organism or cell type. This method can be used to find changes in areas of the genome that may be important in the development of specific diseases, such as cancer

Initial diagnosis: The first clinical determination of the presence of a disease

In-vitro diagnostic (IVD): From the Latin, “within the glass”. A method of performing a diagnostic test outside of a living organism, usually within a laboratory. IVD testing is used to examine specimens derived from the human body in order to provide information regarding a physiological or pathological state. The name reflects the fact that historically such tests were conducted in glass vessels, such as test tubes.

In-vivo testing: From the Latin, ‘in vivo’ – ‘within the living’ - where the tests are conducted within a whole, living organism to observe the overall effect of an experiment on a living subject.

Laboratory Developed Test (LDT): A diagnostic test designed, manufactured and used only by a single laboratory

Negative predictive value (NPV): The probability that a patient receiving a negative test value actually does not carry the biomarker or disease of interest

Outcome: A specific result or effect that can be measured. Examples of outcomes include decreased pain, reduced tumor size, and improvement of disease

Personalized medicine: The use of genetic or other biomarker information to make treatment decisions tailored for individuals, segments or strata of patients

Point of Care (POC) Testing: Clinical testing performed at or near the site where clinical care is delivered, e.g. clinics, physicians’ offices, hospitals

Positive predictive value (PPV): The probability that a patient receiving a positive test value actually carries the biomarker or disease of interest

Precision Medicine: Stratification of a patient population to identify the best responders to a treatment and improve the outcome in each patient segment.

Predictive response: An assessment of the most probable response to a particular treatment in an individual patient

Prognostic assay: A test that determines the severity of a disease and/or likelihood of recovery 

Real World Data (RWD): Healthcare data used for decision-making that is collected in usual care settings and is not derived from conventional randomized controlled trials

Real World Evidence (RWE): New insights or conclusions generated from data obtained in usual care settings [RWD] in a range of non-interventional (observational) studies, ncluding primary data collection and analyses of secondary data

Response monitoring: An assessment of the actual response of an individual patient to a particular treatment

Sensitivity: The probability that a test will assign a positive value to a patient who carries a biomarker or disease

Specificity: The probability that a test will assign a negative value to a patient who does not carry a biomarker or disease

Targeted Therapy: A type of treatment that uses drugs or other substances to attack specific types of cancer cells with less harm to normal cells

Treatment algorithm: A prescribed sequence of clinical steps to treat a given condition, often with specific medications indicated based on patient information and disease presentation

Source: Genetics in Medicine, The In Vitro Diagnostics directive 98/79/EEC; World Health Organization; U.S. National Cancer Institute

Precision Medicine

Precision Medicine

Donna Williams, Family
Donna Williams, Family