Precision Medicine Glossary
AAV (Adeno-Associated Virus) vector
A type of virus engineered to deliver DNA to target cells. In gene therapy, the virus’s own genes are removed, and replaced with therapeutic DNA.
Biomarker
A molecule, gene or other characteristic that indicates the presence of a certain body process or disease.
Bioinformatician
Person who develops data algorithms and specialised software to analyse biological data, such as DNA or RNA sequences.
Bioinformatics
The use of algorithms and software to analyse biological data.
Chromosome
A structure found inside the nucleus of a cell. A chromosome is made up of proteins and DNA organised into genes. Each cell normally contains 23 pairs of chromosomes.
Clinical trial
A research investigation in which people volunteer to test new treatments, interventions, or tests.
Clinical genomic scientist
Person with a Fellowship of the HGSA (Molecular Genetics or the RCPA FSc (FFSc Medical Genomics or Biochemical Genetics) who interprets and reports genomic data to referring clinicians.
Clinical genomics
Is an emerging medical discipline that involves using genomic information about an individual as part of their clinical care (e.g. for diagnostic or therapeutic decision-making) and the health outcomes and policy implications of that clinical use (also used interchangeably with genomic medicine, precision medicine, personalised medicine, stratified medicine).
Clinical utility
The usefulness of the genomic test to the patient (i.e. to what extent does it influence the effectiveness of the proposed intervention or clinical decision making and result in improved clinical outcome).
Clinical validity
How well the test for the genetic variant being analysed predicts the presence or absence of the phenotype of the clinical disease or predisposition.
CRISPR
A genome editing tool.
De novo
A genetic alteration that is present for the first time in one family member because of a mutation in an egg or sperm of one of the parents, or a mutation that happens in the fertilised egg itself during early formation of the embryo. Also called de novo mutation, new mutation, and new variant.
DNA
Deoxyribonucleic acid, a self-replicating material which is present in nearly all living organisms as the main constituent of chromosomes. It is the carrier of genetic information, allowing this information to be passed from one generation to the next.
Epigenetics
Inherited changes that do not affect the DNA sequence but influence gene expression (see below).
Genomic knowledge
Includes information about the interpretation of genomic data and the implications of these findings, as well as relevant non-genomic clinical information.
Genomic medicine
Is an emerging medical discipline that involves using genomic information about an individual as part of their clinical care (e.g., for diagnostic or therapeutic decision-making) and the health outcomes and policy implications of that clinical use (also used interchangeably with clinical genomics, precision medicine, personalised medicine, stratified medicine).
Genomic services
Sequencing of tens, hundreds or thousands of genes or the whole genome, and analysis available for research, screening, or diagnostic purposes.
Genomic testing
Involves the analysis of multiple genes from a cell or tissue simultaneously using sophisticated computer-based algorithms.
Genotype
The part (DNA sequence) of the genetic makeup of a cell, and therefore of an organism or individual, which determines a specific characteristic (phenotype) of that cell/organism/ individual.
Lipid nanoparticle
A tiny particle made of lipids (a type of molecule) that can deliver drugs into cells.
Metabolite
A substance used or made when the body breaks down food, chemicals or its tissue for energy, growth, and repair (the metabolism).
Metabolomics
The study of metabolomes (the set of metabolites present within a cell or tissue) and their functions.
Microbiome
The totality of microorganisms and their collective genetic material present in or on the human body or in another environment.
Mutation
A genetic alteration that increases an individual’s susceptibility or predisposition to a certain disease or disorder. When a mutation is inherited, development of symptoms is more likely, but not certain. Also called deleterious mutation, disease-causing mutation, predisposing mutation, and susceptibility gene mutation. See variant.
Next-generation sequencing (NGS)
NGS also known as Massively Parallel Sequencing, is the catch-all term used to describe modern sequencing technologies which enable WGS and many other applications in genomics.
‘omics
Suffix that refers to the analysis of all the molecules of one type in a cell or tissue. For example: genomics (investigation of all DNA molecules in a cell), proteomics (all proteins), transcriptomics (all RNA molecules), metabolomics (all metabolites).
Organoid
A three-dimensional organ-like structure formed by cells.
Pathogen genomics
The utilisation of genomic and metagenomics data gathered from high throughput technologies (e.g. sequencing or DNA microarrays), to understand microbe diversity and interaction as well as host-microbe interactions involved in disease states.
Penetrance
The percentage risk an individual will develop a condition at a certain age.
Personalised Medicine
Personalised Medicine term is historically used interchangeably with “precision medicine.” In recent years, this term has been used less about specific therapeutics, partly due to a misconception that personalised medicine involves developing unique therapeutics for a single individual. However, the term is still sometimes used in clinical care settings to refer to the concept of making treatment decisions that consider all aspects of a patient’s medical condition, social factors, and environment to optimize a therapeutic regimen for each person. (See Precision Medicine)
Pharmacogenomics
The study of how the actions of, and reactions to, medicines vary with the patient’s genes using large datasets.
Phenotype
Is the composite of an organism’s observable characteristics or traits, such as its morphology, development, biochemical or physiological properties, and behaviours.
Population health
Health discipline focusing on understanding health and disease in the community, and on improving health and well-being through priority health approaches addressing the disparities in health status between social groups.
Precision Medicine
Precision medicine is an emerging approach for disease treatment and prevention that takes into account individual variabilities in genes, environment and lifestyle for each person. This offers great hope for patients from a broad spectrum of conditions and diseases, including patients with rare diseases. At its forefront is the development of personalised or precision medicine which is being delivered as our understanding of fields like genomics grows. The New Frontier – Delivering better health for all Australians (aph.gov.au)
Precision medicine is a tailored treatment or prevention approach that utilises patient-specific genomic, lifestyle, and environmental data. Precision medicine accounts for individual and population-wide variability in these factors when designing treatments and contrasts traditional approaches where treatment is “one size fits all.” The goal of a precision medicine approach is to maximise disease prevention efforts or therapeutic responses for each individual while minimising harmful side effects. For many common (and rare) diseases, a combination of genomic, lifestyle, and environmental factors play an important role in disease onset, progression, and individual treatment response. Identifying and understanding this complex network allows researchers to develop more targeted therapeutics for subsets of individuals. Contrary to popular belief, precision medicine approaches are not always narrowly focused. Instead, many may be applicable across broad populations. Precision medicine is often known also as “personalised medicine” (See also clinical genomics, genomic medicine, precision medicine, stratified medicine).
Predisposition
The possibility of inheriting a condition, disease, or disorder due to genes passed from parent to child.
Proteomics
The study of proteomes (sets of proteins within a cell or tissues) and their functions.
Psychosocial
Involving psychological and social factors.
RNA
Ribonucleic acid, is a molecule similar to DNA. It is responsible for translating information from the genes into proteins.
Somatic
An alteration in DNA that occurs after conception and is not present in the germline (see above). Somatic variants can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children. Somatic variants can (but do not always) cause cancers and other diseases.
Stem cell
A cell with the potential to develop into many different types of cells in the body.
Stratified medicine
Stratifying cohorts of patients by subclass of disease or the likelihood of responding to a particular therapy, intervention, or disease management strategy. The term “stratified medicine” reflects the effects of medicines at the population level, while the term “personalised or precision medicine” refers to individualised treatment based on genetic information. (See also clinical genomics, genomic medicine, personalised medicine, precision medicine).
Tissue typing
The assessment of the immunological compatibility of tissue from separate sources, particularly before organ transplantation.
Transcriptomics
The study of transcriptomes (the total of all the messenger RNA molecules expressed from the genes of an organism) and their functions.
Variant
An alteration in the genetic sequence that may be benign pathogenic, or of unknown significance. See mutation.
Variant of unknown significance
A variation in a genetic sequence for which the association with disease risk is unclear.
Vector
A genetically engineered carrier that delivers a gene into a cell. Certain viruses are often used as vectors because they can deliver the new gene by infecting the cell.
Virome
The genomes of all the viruses that inhabit a particular organism or environment.
Whole exome sequencing
A laboratory technique for sequencing all the known protein-coding regions of DNA in an organism’s genome (known as the exome).
Whole genome sequencing
A laboratory process is used to determine nearly all of the approximately 6 billion letters of an individual’s complete DNA sequence.