Supporting women and pregnant people to navigate diagnostic testing and family planning for individuals or couples at an increased chance of a genetic condition.
Genetic counselling facilitates informed decision making by helping individuals understand:
- The implications of a genetic condition for themselves and their families
- The range and suitability of tests available to them, and the meaning of their test results.
Services available
Multidisciplinary team of clinical geneticists and genetic counsellors providing:
- Advice, education and further testing for individuals and couples planning to conceive or currently pregnant with concerns about:
- a history of a genetic condition in their family
- a genetic problem in pregnancy
- a previous or current fetal anomaly in pregnancy
- risks for future pregnancies
- Advice and further testing for newborns with a suspected or known genetic condition
- Advice to health professionals providing perinatal care to individuals with increased chance of a genetic condition
- Referral as required to other specialities/clinics e.g. Maternal Fetal Medicine or Abortion Service
Referral criteria
Inclusion
Clinical Genetics is available to patients for whom the Women’s is the closest hospital offering this service and who meet one of the criteria below.
Planning a pregnancy |
Pregnant |
Newborn |
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Exclusion
Planning a pregnancy |
Pregnant |
Newborn |
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Referral Instructions
Essential information
All referrals must include the following
- Full name
- Address
- Date of birth
- Phone (preferably mobile)
- Medicare number
- Aboriginal or Torres Strait Islander status
- Interpreter and language required
- Referrer details (name, practice address, phone, fax, email, provider number)
- Relevant medical history
- Details of familial genetic conditions
- If pregnant:
- EDD
- Maternity hospital referred to
Investigations
Preconception patients:
- Carrier Screening Results for both intended biological parents
- If available: Any relevant genetic testing results for both intended biological parents
- If available: Any relevant genetic testing results from family members
Pregnant patients:
- If available: Carrier Screening results for both biological parents
- Non-Invasive Prenatal Testing (NIPT), Combined First Trimester Screen (cFTS) or Maternal Serum Screen Test (MSST)
- All pregnancy ultrasound/s
- Routine pregnancy blood test results including blood group
Infants < 3 months:
- If available: Any relevant genetic testing results
- If available: Other relevant investigation as relevant to referral i.e. ultrasounds/x-rays
MBS now supports limited genetic testing for all Medicare eligible individuals who are pregnant or are planning a pregnancy. The rebates cover genetic reproductive carrier testing for cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS). |
Send Complete Referral
GPs and other specialist doctors can refer directly to the Clinical Genetics Service.
Please send Clinical Genetics referrals to:
- Fast Fax: (03) 8345 2179 (directly to Genetics)
Note: If your patient also requires maternity care, a complete maternity referral must also be sent via Fast Fax (03) 8345 3036 or email referrals@thewomens.org.au
In detail: Maternity Referrals
For more information: How referrals are processed
Clinic locations
The Clinical Genetics service operates from:
- The Royal Women’s Hospital, Parkville
- Joan Kirner Women’s and Children’s Hospital, St Albans
Clinical Genetics referrals can be made to either service and will usually be triaged to the service where the patient is likely to receive antenatal care.
Appointments
Face-to-face and telehealth options are available
Most genetics referrals for pregnant patients will be triaged as urgent and seen within a week. Non-urgent appointments for non-pregnant patients will usually be seen within 12 weeks.
Which service can I refer to if my patient is not eligible?
- Children over 3 months of age with symptoms of a genetic condition
- Please refer to the Royal Children’s Hospital https://www.rch.org.au/specialist-clinics/referring-information/
- Adult genetic testing for their own health
- Please refer to an adult service below
- Royal Melbourne Hospital https://www.thermh.org.au/services/genetic-medicine/adult-genetics
- Austin Hospital https://www.austin.org.au/genetics/referrals
- Monash Hospital https://monashhealth.org/health-professionals/referrals/genetics/
- Please refer to an adult service below
- Cancer risk assessment for pregnant people
- Please refer to an adult service below
- Low chance screening without ultrasound anomalies
- No referral needed
My patient is a carrier of SMA or CF, what do I do?
- Organise testing of their partner
- If their partner is not a carrier, then they are considered low chance and do not need to be referred
- We do not accept referrals for women whose partners have not been tested
- If they are both carriers please refer them to our service.
My patient tested positive for FXS on carrier screening, what do I do?
Please refer. Only the mother needs to be a carrier, you do not need to test the partner.
My patient is pregnant and has a family history of cancer, what do I do?
Please refer them to their local Familial Cancer Centre:
https://www.cancervic.org.au/cancer-information/genetics-and-risk/family-cancer-centres
Related information
Date reviewed: 24 June 2025
Date reviewed: 24 June 2025