Appendix 1: Glossary and abbreviations

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.

ACSQHCAustralian Commission on Safety and Quality in Health Care
CAR-TChimeric antigen receptor T-cell
CPDContinuing Professional Development
GARDGenetic and Rare Disease Information Center
HIVHuman immunodeficiency virus
MBSMedicare Benefits Schedule
NDISNational Disability Insurance Scheme
RACGPRoyal Australian College of General Practitioners
RACPRoyal Australasian College of Physicians
RARERare Awareness Rare Education
RArESTRare Disease Awareness, Education, Support and Training
TORCHCongenital infections of toxoplasmosis, syphilis, hepatitis B, rubella, cytomegalovirus, herpes simplex, and others
UDNIUndiagnosed Diseases Network International
UDPUndiagnosed Diseases Program