Genetics is the study of the functions and composition of individual genes. Genomics is the examination of all genes and how they interact with each other and the environment. Advances in genomic knowledge and technologies are providing new insights into the genetic causes of disease, and leading to the development of new treatments and management strategies. These applications extend from very rare conditions through to common, complex diseases such as diabetes and cancer.
What does genomics mean for health?
Almost all known diseases have a genetic basis. Some diseases result directly from a genetic change, such as Duchenne muscular dystrophy. Other diseases, including diabetes and some cancers, can arise from a genetic predisposition. In these cases, an individual’s genes interact with the environment to increase the person’s risk of developing a disease. Understanding the genetic contribution to disease is a key step in developing treatments, management approaches or methods of minimising risk.
The integration of genomic knowledge and technologies into health services will enhance health and wellbeing for the population by enabling:
- earlier and more precise disease detection and diagnosis
- earlier intervention
- new treatments tailored to the individual.
What are genomic technologies?
Genomic technologies are tools that aid clinicians in the diagnosis and treatment of patients. They do this by providing an understanding of the individual’s genetic makeup (genotype), which can be used in conjunction with a thorough understanding of the patient’s clinical presentation (phenotype).
Traditional genetic technologies are those that enable the sequencing of one gene at a time. More recent genomic technologies allow complete sequencing of multiple genes – rapidly and simultaneously. This technique is known as massively parallel sequencing (MPS). MPS is sometimes referred to as next-generation sequencing. This distinguishes it from first-generation or single-gene sequencing, which remains a valuable tool for clinicians today.
Continued development of genomic technologies has driven improved diagnostic accuracy and comparatively lower costs. This provides an opportunity to integrate genomic technology into healthcare, to support the delivery of effective and efficient services for the benefit of the community.
Genomics in WA Health
The incorporation of genetic and genomic advances into WA Health service delivery occurs primarily through Genetic Services of WA (GSWA). GSWA provides a comprehensive statewide diagnostic and confidential counselling service in clinical genetics.
GSWA requests for genetic testing are undertaken primarily by PathWest Laboratory Medicine WA (external site), through its Department of Diagnostic Genomics. The laboratory utilises genetic and genomic technologies to seek a medical diagnosis. The test results are then forwarded to the referring clinician to assist with managing the patient’s care.
The translation of genomic research into healthcare practice is supported by the Office of Population Health Genomics (OPHG), within the Public Health Division. OPHG supports the Health Service Providers responsible for implementing genomics knowledge and innovations, and develops evidence-based public policy that guides government action on genomics issues at the state and national levels.
Examples of how genomic technology is being incorporated into the healthcare system in WA include its use within the following services:
- The Rare and Undiagnosed Diseases Diagnostic Service, which is a diagnostic pathway for genetic conditions delivered through GSWA.
- The Undiagnosed Diseases Program WA, which aims to provide a definitive diagnosis for people with complex and long-standing medical conditions.
Information for consumers
A wide range of information on genetic conditions and genetic testing (Healthy WA) is available for consumers.