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.
Knowledge about genetics
Our understanding of genetics is expanding rapidly. This is, in part, due to the decreasing cost to analyse a person’s genes.
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 services provided
Genetic services currently available in Victoria include:
- population screening of newborns and second trimester foetuses for selected genetic conditions
- information and counselling for people considering pre-implantation genetic diagnosis, prenatal diagnosis or following diagnosis of a foetal anomaly
- diagnostic, predictive testing and counselling services for people affected by, or at risk of, birth defects, genetic disorders of childhood or later onset genetic disorders such as familial cancer
- identification and risk assessment of relatives who may carry or be at risk of a genetic disorder
- laboratory testing of individual samples to identify changes in genetic makeup that may lead to or increase the risk of having a heritable medical condition or inform treatment
- information, advocacy and support for individuals with a genetic condition and their families
- general information for individuals, health professionals and the community about genetic disorders and birth defects.
Services are provided mainly in outpatient settings with hospital ward consultations provided as needed.
Screening refers to a test that is offered to all people, regardless of previous family history. Carrier testing is a type of screening and is generally used for those known to be at risk. Second trimester and newborn screening are routinely available to all expectant mothers and babies in Victoria and may lead to referral to specialist genetic services for follow up depending on results.
Screening and testing services available in Victoria include:
- Maternal serum screening (MSS) – MSS is offered to all pregnant women for the detection of Down syndrome and neural tube defects.
- Newborn screening – all newborn babies are screened for phenylketonuria (PKU), hypothyroidism, cystic fibrosis and another 20 metabolic disorders.
- Carrier screening for cystic fibrosis (CF) – screening for CF carriers is currently available on a fee-for-service basis.
- Thalassaemia screening – couples in antenatal care are offered screening for haemoglobinopathies.
Entry to publicly funded genetic services is usually by referral from a doctor (general practitioner or medical specialist). Self-referral to a Familial Cancer Centre for heritable cancers is also available.
Clinical genetic services
Public genetic services are available at five metropolitan hub hospitals, with periodic services available at some other metropolitan, regional and rural centres.
The five metropolitan hubs are:
- Austin Hospital/Mercy Hospital for Women
- Royal Melbourne Hospital
- Monash Medical Centre
- Peter MacCallum Cancer Centre
- Victorian Clinical Genetics Services/Royal Children’s Hospital.
Outpatient clinics may be weekly or up to three-monthly, with inpatient consultations as needed. Familial cancer services for people with, or at risk of, an inherited cancer are provided by the Austin and Royal Melbourne Hospitals, Monash Medical Centre, Peter MacCallum Cancer Centre and privately at Cabrini Hospital in Malvern.
Genetic diagnostic laboratory services
Laboratory services include a range of genetic techniques to diagnose and help in managing particular genetic conditions. Genetic testing is provided by a number of public and private providers and is accessed through a clinical genetic service or some medical specialists.
Where a genetic test is not available in Victoria, a sample may be sent interstate or overseas for testing.
Providers of genetic diagnostic laboratory services in Victoria include:
- Victorian Clinical Genetics Services, which also hosts the statewide newborn screening and maternal screening programs
- Monash Medical Centre, which provides statewide thalassaemia and haemoglobinopathy testing
- Peter MacCallum Cancer Centre, which provides cancer genetic testing
- Victorian Cancer Cytogenetic Service at St Vincent’s Hospital, which provides cancer cytogenetic testing.
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.
Thalassaemia Australia encourages and facilitates the formation and development of support groups for people with thalassaemia and related haemoglobin conditions and their families. It also provides an advocacy service for people with haemoglobin conditions designed to increase awareness in the general community and, on request, to act as a spokesperson on behalf of affected people and families.
Where to get help
- Your doctor
- Genetic Support Network of Victoria Tel. (03) 8341 6315
- Thalassaemia Australia Tel. (03) 9888 2211
- Familial cancer services Tel. (03) 13 11 20
- Newborn Screening program Tel. (03) 8341 6200
Things to remember
- Genetic services in Victoria cover diagnosis, screening and testing, 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.
This page has been produced in consultation with and approved by:
Department of Health and Human Services - Chronic Disease Prevention
Content on this website is provided for education and information purposes only. Information about a therapy, service, product or treatment does not imply endorsement and is not intended to replace advice from your doctor or other registered health professional. Content has been prepared for Victorian residents and wider Australian audiences, and was accurate at the time of publication. Readers should note that, over time, currency and completeness of the information may change. All users are urged to always seek advice from a registered health care professional for diagnosis and answers to their medical questions.