Glossary
Advanced therapies / advanced therapy medicinal products: Medicines for human use that are based on genes, tissues, or cells
Cascade testing: The process by which biologically-related family members are informed about a genetic condition that has been discovered within their family, followed by stepwise testing of family members.
Coding: Medical coding is the transformation of health care diagnosis, procedures, medical services, and equipment into universal medical alphanumeric codes. Many individual rare diseases still lack a specific code in the most commonly used medical coding systems, leading to under recognition of the importance of rare conditions.
Congenital anomaly: A structural or functional change that occurs while an individual is in the womb.
CRISPR-Cas9: A technique used to edit the genome, which was adapted from a naturally occurring genome editing system present in bacteria. CRISPR-Cas9 is short for clustered regularly interspaced short palindromic repeats and CRISPR-associated protein 9.
Diagnostic odyssey/journey: The time between when a symptom or feature of a rare disease is first noted to when a final diagnosis is made. Often called an odyssey because for many people it can take years for a diagnosis to be reached and may involve several incorrect diagnoses.
Gene therapy: A medical therapy that treats or prevents disease by correcting the underlying genetic problem.
Genetic/genomic testing: Analysis of a person’s genetic material (DNA) to identify variants that could be associated with a condition or the chance of developing a condition.
Genomic reanalysis: Re-examination of DNA sequence data from a previous genomic test.
Health promotion: A process that encourages and enables people to increase control over, and to improve, their health.
Natural history study: A preplanned observational study that tracks the course of a disease over time, usually in the absence of any therapeutic intervention.
People living with rare disease: Individuals with a rare disease, as well as their family, carers, and support people.
Phenotype: An individual’s observable traits, such as eye colour, height, and blood type, which is influenced by both the person’s genetic makeup and environmental factors.
Registry: A dedicated database capturing information about people with specific conditions or types of conditions.
Undiagnosed disease program: A research program, often a collaboration between multiple researchers and institutes, that utilises the latest genomic technologies and emerging analytic tools to find diagnoses for undiagnosed individuals.
Variant: A permanent change in the DNA sequence that makes up a gene. These may be either inherited from a biological parent or occur spontaneously during a person’s lifetime (either before or after they are born).
Variant of uncertain significance: A genetic variant identified by genetic or genomic testing that may or may not cause disease. The pathogenicity is unknown because insufficient data is available.
Abbreviations
| ACSQHC | Australian Commission on Safety and Quality in Health Care |
| CAR-T | Chimeric antigen receptor T-cell |
| CPD | Continuing Professional Development |
| GARD | Genetic and Rare Disease Information Center |
| HIV | Human immunodeficiency virus |
| MBS | Medicare Benefits Schedule |
| NDIS | National Disability Insurance Scheme |
| RACGP | Royal Australian College of General Practitioners |
| RACP | Royal Australasian College of Physicians |
| RARE | Rare Awareness Rare Education |
| RArEST | Rare Disease Awareness, Education, Support and Training |
| TORCH | Congenital infections of toxoplasmosis, syphilis, hepatitis B, rubella, cytomegalovirus, herpes simplex, and others |
| UDNI | Undiagnosed Diseases Network International |
| UDP | Undiagnosed Diseases Program |
