Glossary

Clinical genetics service – A specialist clinic for individuals and families who have, or are at risk of having, a genetic condition. They provide genetic testing, education, support and health advice.    

Clinically actionable genetic information – A genetic variant where the effect on your health is well understood and there are actions that can be taken to improve your health or prevent 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.

Gene – A section of DNA that is the basis of inheritance. Genes encode instructions to make particular components of your body, usually proteins.

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.

Geneticist – A doctor who specialises in genetic disorders or conditions. They use genetic information and DNA tests to diagnose, treat, manage or prevent inherited genetic disorders and diseases and conditions influenced by genetic factors.

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.

Genome – A complete set of instructions to make and operate a person. The entire set of a person’s genetic material including all their genes (approximately 20,000).

Genomics – the study of genes and other information encoded in a person’s genome—the complete set of instructions in our DNA.

Genome sequencing – A laboratory technique used to read the sequence of letters or bases in a DNA molecule, represented by the letters A, C, G, and T.

Research result — information that arises from a research study that might be important for the health of a study participant or the health of their relatives.

Variant or genetic variant (gene change) – A change in the DNA sequence of a gene.