Precision medicine: Glossary of terms

AI / Artificial intelligence*

Automated algorithms that can replicate human intelligence and learning with the ability to store, analyse and draw conclusions from information.

Biomarker*

A biological indicator, such as a genetic or molecular characteristic of a patient, which can be found in tissue, blood, urine or other bodily fluids. Biomarkers can be measured to identify underlying pathological or physiological processes.

Biopsy*

Procedure where a tissue sample is taken from the body to analyse for indications of a disease.

Chronic disease (vs. long term illness)^†

A disease where symptoms persist for an extended period of time, usually a year or longer, generally slow in progression and which requires ongoing medical attention. In contrast to long-term illnesses, chronic diseases have no cure, and not all are life-threatening. Examples of chronic diseases include chronic kidney disease, asthma and chronic obstructive pulmonary disease.

CRISPR-Cas9^¶

CRISPR-Cas9 is a naturally occurring protection system found in bacteria to combat and destroy invading viruses. This system has been adapted by scientists to facilitate precise gene editing of DNA in cells. 

Diagnostic test*

Tests used to help determine the suitability of a patient for a certain medicine. They can also be used to identify a disease or its cause.

DNA^¶

Deoxyribonucleic acid (DNA) contains the genetic information that defines the development and function of a living organism.

Gene^¶

A basic unit of hereditary which passes from parent to child containing a sequence of DNA.

Genetic*

Traits or processes relating to a particular gene.

Genome^¶

The entire DNA information contained within a cell.

Genetics / Genomics*

The study of genes and heredity, specifically the way that certain traits are passed down from one generation to the next.
 

Genomics is the study of the entirety of the DNA information within a cell (the genome), including both coding and noncoding regions. This research helps medical professionals to discover why some people get sick from certain infections, environmental factors, and behaviours, while other people don’t.

Genotype^¶

The genetic make-up of an individual organism. 

Heterogeneity / Heterogeneous*

Diversity of characteristics within an individual or disease group. These could include differing causes of diseases, biomarkers or symptoms.

Knowledge graph^#

‘Living’ maps of disease that analyse vast amounts of health and patient-related data to see potential interactions between gene targets, expression and disease. Relationships are detected and analysed using machine learning and AI. By discovering previously unknown patterns in the data, scientists are able to draw better and faster conclusions across a range of complex diseases, for example, identifying new targets to prioritise. 

Machine learning*

A branch of artificial intelligence which uses algorithms to process data. It improves automatically with experience, ‘learning over time’, helping to find connections and conclusions within expansive data sets (e.g. patient records) far more rapidly than a human would ever be able to.

Metabolomics*

The study of all chemical processes involving metabolites.

Multi-omics^§

A biological analysis approach where multiple data sets from different omics groups are combined – including genomics, proteomics, transcriptomics, and metabolomics.

Mutation^¶

An alteration in an organism’s DNA sequence at a specific location in the genome.

Novel target^††

A previously unidentified or untargeted molecule, protein or receptor being explored to see if a drug or therapy can interact and alter its function or behaviour.

Patient cohorts*

A group of patients that share a common trait or condition. Patient cohorts are used to build comprehensive biomedical databases or biobanks which include clinical and molecular data from patients with diseases to provide molecular insights to drive research and drug discovery.

Patient subgroup / population**

A specific group of individuals with common characteristics e.g., specific disease drivers, ethnicity, age or risk factors.

Pharmacogenomics^¶

An important aspect of precision medicine that explores how DNA affects a person’s response to a drug.

Phenotype^¶

The set of observable traits in an individual that arise from a combination of its genotype and environment (e.g., height and hair colour).

Precision medicine^||

Precision medicine involves developing therapies more targeted to underlying drivers of disease in order to match the right treatment to the right patient at the right time. 

Proteomics*

The study of the entirety of proteins within an organism or cell.

Sequencing^¶

Techniques to determine the sequence / primary structure of a biological polymer. For example, DNA sequencing aims to determine the exact order of the four nucleotide bases of a strand of DNA of an individual patient.

Single nucleotide polymorphism (SNP)^¶

A DNA variation caused by a single nucleotide (base pair) at a specific position in the genome.

Targeted therapy / treatment*

Specifically designed or selected to interact / interfere with particular molecular targets.

Transcriptomics*

The study of the complete set of RNA molecules within a cell.

Variant*

In genetics, a genetic variant refers to any difference in the DNA sequence between two genomes.