What is the Australian Node?
The Australian Node of the Human Variome Project is an electronic repository of genetic test results and interpretations collected from pathology laboratories conducting genetic testing around the country.
Information on genetic test results and interpretations is automatically collected from our partner laboratories in Australia at the same time as a report is issued to the medical practioner requesting the test. All information that can potentially be used to identify an individual is removed from the record before it is is securely transferred to the Node repository.
Access to the repository itself is available only to the staff of registered genetic testing laboratories within Australia and registered medical practitioners and genetic counsellors who see patients with diseases that posses a genetic component. Access to the Node is strictly managed and regularly reviewed by our Data Access Committee.
Some records may be made available to scientists who are undertaking specific research projects into the causes and potential treatments of genetic dieseases. Requests for access for research use must undergo review by a Human Research Ethics Committee before being referred to the Australian Node Data Access Committee.
Collecting all genetic test results and their interpretation at the national level has several benefits; both to the clinical service of patients and medical research. Pathology labs, whose remit is to test individuals for genetic changes and provide a report on the potential functional consequences of any discovered changes, will be able to draw on the collective experience of the entire country’s pathology labs and will provide an additional resource to inform such interpretations. Pathology labs will also be able to use this new information resource to design multi-institution quality assurance programs. This will potentially lead to:
- Allows continuous updating of information and testing assays.
- Provides quality assurance mechanisms for data generated within individual labs.
- Allows greater assurance of a gene’s pathogenicity if observed across a wide range of genetic backgrounds.
- Can give consistency of interpretation of genetic variation between different branches of the same family.
- Allows new areas of research to flourish, encourages collaboration and translation.
By linking the test result (molecular) data within the Australian Node repository to clinical data from hospitals and clinics within the country, medical researchers will be able to discover new insights into genetic disorders that may one day lead to better diagnosis and treatment options for affected individuals and their families, as well as creating a rich research platform in the areas of medical science (e.g. diagnostic procedures), health care (e.g. treatment and effectiveness) and bioinformatics (e.g. data mining).
The Human Variome Project Australian Node has the ability to increase health outcome for individual patients in two ways:
- Pathology staff at diagnostic laboratories will have a vast resource to draw from when interpreting the results of a genetic test that will enable them to provide a more accurate diagnosis to the clinician in less time.
- Clinical staff will be able to use this resource to find detailed clinical information about the effects of specific genetic variants, leading to a more personalised approach to genetic healthcare.
In addition, these improved patient health outcomes will have flow on benefits to the entire health system, including:
- increasing the efficiency and quality of genetic diagnostic services;
- lowering costs through the targeting of treatments to specific patients needs; and
- providing hard data on the state of play in regards to the genetic landscape of the Australian population to enable better planning of genetic healthcare services by local hospitals and State Governments.
The Australian Node of the Human Variome Project is just one of several HVP Country Nodes being actively developed around the world. These repositories, or HVP Country Nodes, are built, managed and resourced by individual countries to meet the information, ethical and legal requirements of those individual countries. The Human Variome Project Consortium facilitates their construction and operation via the creation of standards and systems, examples of which include: nomenclature standards, data visualisation tools and database software.
The Australian Node will be the first of these nodes to become operational. Currently we are working with four pathology laboratory partners to pilot the collection of information on genes involved in three diseases: breast cancer, colorectal cancer and Huntington’s disease. Once the national repository has been launched we are planning an aggressive expansion campaign to target more labs and more disease groups.
Eventually, data from the Australian Node of the Human Variome Project will flow to international resources and databases to contribute to the global sharing of genetic variation data as promoted by the Human Variome Project.
More information on the Human Variome Project and the HVP Country Node Program can be found on the Human Variome Project website.