Amino acid – The chemical building blocks that make proteins. There are 20 amino acids, which combine in different ways to make specific proteins.


Base – One of the four chemical components of DNA that form the cross links (or rungs) of the DNA double helix: adenine (A), thymine (T), guanine (G) and cytosine (C).

Bioinformatician – A scientist who applies computer science to areas of biology. Bioinformaticians are involved in the analysis of biological data – such as genetic data.


Cell – The building blocks of our bodies. They provide structure, take in nutrients from food, and perform all of our bodies’ important functions. Each of the body’s trillions of cells contains a copy of a person’s unique genetic code.

Chromosome – A structure found in most living cells that carries genetic material. In people, chromosomes are thread-like structures of DNA wound around proteins called histones. All of our cells – apart from sperm and egg cells – have 46 chromosomes in each cell.

Clinical geneticist – A medical specialist who is an expert in inherited disease.


DNA (Deoxyribonucleic acid) – The molecule that contains a person’s unique genetic instructions, encoded within the sequence of DNA bases or nucleotides. Genes are sections of DNA.

DNA sequencing – The process of identifying the order of nucleotides (bases) in a section of DNA.

Enzyme – A type of protein that helps carry out chemical reactions in the body.

Epigenetics – The study of the biological processes that modify or mark DNA in a way that tells it what to do, where to do it, and when to do it.

Exome – The portion of the genome consisting of genes that encode proteins. The exome makes up 1-2 % of the whole genome.


Gene – A section of DNA that is the basis of inheritance. Each gene contains the code for a particular molecule, usually a protein (that the body needs to function properly).

Gene panel – A collection of genes to be sequenced together, usually linked by being associated with the same genetic condition or biological process.

Genetic counsellor – A health professional who has specialised training in genetics and counselling, and provides individuals and families with information about genetic testing, genetic conditions and risk.

Genetics – The field of biology concerned with genes, genetic variation, and heredity in living things.

Genetic support group – Groups that provide people with genetic conditions and their families with information, support and community resources. There are hundreds of support groups for people affected by genetic conditions in Australasia and internationally.

Geneticist/genomicist – A scientist or clinician whose speciality is the study of the genome.

Genome – The entirety of a person’s genetic material including all their genes (approximately 20,000) and the genetic material between genes. More than 6 billion bases or DNA letters.

Genomics – The study of the genomes of individuals — part of the wider field of genetics.

Genotype – A person’s unique genetic makeup. Can also refer to genes or sections of genes that relate to a particular characteristic.


Mendelian – Usually referring to a condition or trait that is inherited by sexual reproduction, in a traceable pattern. Genetic conditions that are caused by changes in a single gene are sometimes described as Mendelian conditions or monogenic conditions.


Nucleus – A structure found within most cells that contains an entire copy of a person’s genetic information.


Pathologist – A medical specialist who is an expert in the diagnosis of disease. Genetic pathologists focus on genetic causes of disease diagnosis.

Pharmacogenomics – The branch of genomics that looks at how people are likely to respond to medicines based on their genetic makeup. Commonly used interchangeably with pharmacogenetics.

Phenotype – Observable (or measurable) characteristics, such as their height or blood type. A person’s phenotype results from the interaction of genes and the environment.

Personalised or precision medicine – The tailoring of medical decisions to individual patients based on advance knowledge of genetic, environmental, and lifestyle factors.

Protein – A large molecule made up of one or more chains of amino acids. Proteins have a variety of roles in the body to help it to function properly.

Variant – A change in the DNA sequence of a gene.

Whole exome sequencing (WES) – The process of determining and analysing the sequence of all the known protein coding genes in a person’s genome (known as the exome).

Whole genome sequencing (WGS) – The process of determining and analysing the complete DNA sequence of a person’s genome.