Order a test

How each test is ordered and funded varies. Some tests require referrals from specialists, and some require specific request forms and/or completed patient consent forms. See specific tests for details.

Advice to consider before requesting a genetic test

Genetic testing can provide important information about an individual’s health. It can diagnose genetic conditions and may predict future health problems.

Before undergoing any genetic testing, individuals should be provided with information by their doctor or genetic counsellor and have the opportunity to ask questions.

For individuals with a genetic condition, results of testing may help inform medical management and treatment. For otherwise healthy individuals, testing which reveals the chance of future health problems should still be undertaken with the advice of a doctor/genetic counsellor to explain the limitations and potential outcomes of testing. Genetic testing in the absence of a doctor-patient relationship may have unanticipated negative consequences.

This may occur when:

• The test is performed by a pathology laboratory that does not meet Australian regulatory standards.
• The test is poor quality and produces inaccurate results.
• Testing is conducted inappropriately, including in a setting without demonstrated evidence for its justification.
• An individual bases a healthcare decision on a misinterpretation of a result.
• The results of genetic testing lead to negative impacts for life insurance ratings.

VCGS believes the following should be considered the minimum requirements for medically meaningful genetic tests:

• Doctors requesting the test should make a determination about the medical relevance.
• The laboratory performing the testing must be accredited to perform the test to recognised Australian regulatory standards.
  • Overseas laboratories may present difficulties with quality assurance and access to legal redress if problems arise.
• Accredited laboratories should provide doctors and people considering genetic testing with sufficient information and access to expert help to order and interpret tests.
• Individuals should work with qualified health professionals such as doctors and genetic counsellors to make decisions affecting their personal health.
  • Individuals should be fully informed regarding what the test can and cannot say about his or her health.
  • Privacy concerns should be addressed prior to testing.
  • Potential impact on life insurance should be considered before arranging testing.
  • Access to genetic counselling to help people understand and adjust to genetic test results should be available.

Contact

For more information, please contact Justine Elliott, VCGS Clinical Genomics Service, on (03) 8341 6201 or [email protected].

Resources (Position Statements)

Human Genetics Society of Australasia (HGSA) - Direct to Consumer Genetic Testing
Royal College of Pathologists of Australasia (RCPA) - Genetic Tests that are Marketed Directly to Consumers
National Health and Medical Research Council (NHMRC) - Direct-to-Consumer (DTC) Genetic Testing
RACGP - Direct-to-consumer DNA testing and the general practitioner