Summary

  • Genetic services in Victoria cover diagnosis, screening and testing.
  • Genetic services provide counselling and information for individuals and families with, or at risk of, particular birth defects and inherited disorders.
  • The Genetic Support Network of Victoria (GSNV) supports many groups that provide a point of contact for parents and people with the same genetic condition.

Genetic services can help people who are affected by, or who are at risk of, inherited conditions or birth defects to make informed choices about their healthcare. Services provided include genetic diagnosis, screening and testing, counselling, information, advocacy and support.

You might want to access genetic services because a loved one has been diagnosed with a genetic condition and you are concerned about your, and your children’s, risk of developing the condition. 

Knowledge about genetics


Our understanding of genetics is expanding rapidly. It’s an exciting field, and new advances in technology have greatly improved our understanding of the role of inheritance in health and disease. 

The number of medical conditions associated with genes is growing. Consequently, genetic services have expanded from services for rare single gene and chromosome disorders (such as Huntington disease and Down syndrome) to include genetic services associated with a range of common, later onset medical conditions (such as heritable cancer and some heart conditions).

Types of genetic services provided


Genetic services currently available in Victoria include:

  • Carrier screening, which can tell you whether you and your partner ‘carry’ a genetic change for the same recessive condition such as Cystic Fibrosis. If both parents are carriers, they do not have the condition, but their children are at a higher risk of inheriting that condition 
  • Prenatal screening tests can tell you if you are at a higher risk of your baby being affected by a chromosomal condition such as Down syndrome. Examples of these tests include non-invasive prenatal testing (NIPT), combined first trimester screening and second trimester serum screening. 
  • Newborn screening – all newborn babies are screened for phenylketonuria (PKU), hypothyroidism, cystic fibrosis and other metabolic disorders.
  • Diagnostic testing can identify or rule out a specific genetic condition. You may be offered a diagnostic test in pregnancy such as an Amniocentesis or Chorionic Villus Sampling (CVS) if you receive a high risk result on your prenatal screening test or an abnormal ultrasound. 
  • If an individual in your family is diagnosed with a genetic condition, you may be offered predictive testing, to find out whether you are likely to develop this condition later in life.
  • Risk assessment of relatives who may carry or be at risk of a genetic condition. In some cases, families may carry genetic changes that can increase their risk of cancer. Family cancer clinics can help assess your individual risk and the utility of genetic testing. 
  • Genetic counsellors can help you navigate through the process and your future healthcare planning. And of course, there’s also your GP or healthcare team that can support you with advice and help plan for the future. 
  • Information, advocacy and support. The Genetic Support Network of Victoria (GSNV) is connected with a wide range of support groups throughout Victoria and Australia and can connect you with individuals and families affected by a genetic condition.
  • information and counselling for people considering pre-implantation genetic diagnosis
  • general information for individuals, health professionals and the community about genetic disorders and birth defects.
If appropriate, you would be referred to a publicly funded genetic service by your healthcare professional, usually a general practitioner or a medical specialist. They will tell you what’s involved.

Clinical genetic services


In Victoria, public genetic services are available at three metropolitan hub hospitals that provide outreach clinics to other metropolitan, regional and rural centres.

The three metropolitan hubs are:
Austin Hospital/Mercy Hospital for Women
Monash Medical Centre
Parkville precinct : Royal Melbourne Hospital, Royal Children’s Hospital/Victorian Clinical Genetics Services, Royal Women’s Hospital, Peter MacCallum Cancer Centre
Some clinics are general, covering all genetic conditions. Others are staffed to address specific conditions such as familial cancer, cardiology or neurogenetics. 
 
Some health services may offer the option of telehealth video consultations. This connects you to your clinician via a videolink. Contact you health service to find out if this is available to you. 

Genetic diagnostic laboratory services

Laboratory services include a range of genetic techniques to diagnose and help in managing particular genetic conditions. Once a genetic condition is identified in an individual, genetic testing to confirm a diagnosis can be offered to family members  who would like to know their risk of being affected or being a carrier of that condition. 

Genetic testing is provided by a number of public and private providers and is accessed through a clinical genetic service or some medical specialists. Genetic testing usually involves taking a sample of body tissue. The tissue type depends on the test and may usually involved a blood or saliva sample. It is important to note that not all conditions can be genetically tested for, and sometimes performing genetic tests may not result in an answer. 

Where a genetic test is not available in Victoria, a sample may be sent interstate or overseas for testing. It is important that you use accredited genetic tests that are referred by your doctor. Send away tests that you can perform yourself over the internet are not assessed for quality, and you cannot be certain that the results you receive are accurate. 

Providers of genetic diagnostic laboratory services in Victoria include:

Support groups for genetic disorders


The Genetic Support Network of Victoria (GSNV) aims to make sure that all people with a genetic disorder in Victoria have appropriate and accurate information and support to be able to manage the challenges to their health and wellbeing. The GSNV provides information, resources and help to support a number of existing genetic support groups and to aid the development of new groups.


Where to get help

More information

Genes and genetics

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A-Z of genetic conditions

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This page has been produced in consultation with and approved by: Department of Health and Human Services - Chronic Disease Prevention

Last updated: March 2014

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