Genetic services in Victoria

Genetic services in Victoria

Genetic services can help people who are affected by, or 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 may choose to access a genetic service for a variety of reasons. You may be concerned about a family history of a specific condition, or want peace of mind when deciding to have a baby. You may be referred to a genetic service if certain symptoms arise, or if a family member receives a diagnosis of a genetic condition.

The precision of genetics and the ease of accessing and undergoing genetic testing has improved significantly within the last decade.

Knowledge about genetics

Our understanding of genetics is expanding rapidly. It’s an exciting field. New advances in technology have greatly improved our understanding of the role of inheritance in health and disease, and our ability to test for genetic and chromosomal conditions.

As our knowledge of genetics increases so does our understanding of the role genes play in conditions and diseases. This increased knowledge has allowed the expansion of genetic services. The number of medical conditions known to be associated with genes is growing. So more families and individuals are accessing genetic services for a wider variety of genetic conditions. Testing is now available across a wide range of healthcare settings.

Types of genetic services available in Victoria

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

predictive testing

– 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 whether genetic testing may be useful

genetic counselling

can help you navigate through the process and your future healthcare planning. Your GP or healthcare team can also support you with advice and help you plan for the future

information, advocacy and support

– t

he

Genetic Support Network of Victoria

(GSNV)

External Link

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.

provide

information and counselling for people having IVF who are considering pre-implantation genetic diagnosis

provide

general information for individuals, health professionals and the community about genetic conditions and birth anomalies.

If appropriate, your healthcare professional (for example, your general practitioner or medical specialist) can refer you to a publicly funded genetic service. The healthcare professional 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. All three of these ‘hubs’ are multifaceted in their healthcare approach and offer counselling alongside genetic testing.

The three metropolitan hubs are:

Austin

Health

External Link

offers genetic services through:

the Austin

Hospital

External Link

the Mercy Hospital for

Women

External Link

the Northern

Hospital

External Link

Monash Medical Centre Genetics

Clinic

External Link

Parkville precinct:

Royal Melbourne

Hospital

External Link

Royal Children’s

Hospital

External Link

/

Victorian Clinical Genetics

Services

External Link

Royal Women’s

Hospital

External Link

Peter MacCallum Cancer

Centre

External Link

.

Some clinics are general, covering all genetic conditions. Others are equipped to address specific conditions such as familial cancer, cardiology or neurogenetics.

Some health services may offer the option of

telehealth

External Link

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.

Note that not all conditions can be genetically tested for, and sometimes performing genetic tests may not result in an answer.

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 needed depends on the test, but usually involves a blood or saliva sample.

If a genetic test is not available in Victoria, a sample may be sent interstate or overseas for testing. Be sure to use accredited genetic tests to which you 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:

Victorian Clinical Genetics

Services

External Link

Monash Medical

Centre

External Link

Peter MacCallum Cancer

Centre

External Link

Victorian Cancer Cytogenetic Service at St Vincent’s

Hospital

External Link

.

Support groups for genetic disorders

The

Genetic Support Network of Victoria

(GSNV)

External Link

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. GSNV provides information, resources and help to support a number of existing

genetic support

groups

External Link

and to aid the development of new groups.

Where to get help

Your

GP (doctor)

Genetic Support Network of

Victoria

External Link

Tel. (03) 8341 6315

Cancer Council for familial cancer

services

External Link

Tel. (03) 13 11 20

Murdoch Children’s Research Institute newborn screening

program

External Link

Tel. (03) 8341 6200

Victorian Clinical Genetics

Services

External Link

Tel: 1300 11 8247

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