Clinical Genetics Service

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
Personal or family history of a genetic condition, or congenital abnormality Families where both biological parents are carrier of a genetic condition Previous genetics patient of the Women’s	Personal or family history of a genetic condition Ultrasound anomalies indicative of genetic condition High chance screening results Low chance screening with ultrasound anomalies	All criteria must be met: Infant <3 months; and Born at the Women’s; and Features of a suspected or known genetic condition

Exclusion

Planning a pregnancy	Pregnant	Newborn
Positive carrier screening results where only one biological parent has been tested Genetic risk assessment based on family history of cancer	Low chance screening result without ultrasound anomalies Family history of cancer with no other issues of concern Positive carrier screening results where only one biological parent has been tested (exception: Fragile X syndrome where only mother needs to be a carrier)	Infant >3 months with symptoms of a genetic condition Born at a hospital other than the Women’s

Referral Instructions

Essential information

All referrals must include the following

• Full name
• Address
• Date of birth
• Phone (preferably mobile)
• Email
• 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.

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