Clinical genetics, Sydney Children's Hospital, Randwick



Location: Outpatient department, level 0, Sydney Children’s Hospital, Randwick

About our service

The clinical genetics service offers consultative genetic advice and support for patients, families and health care professionals within South Eastern Sydney Local Health District and Illawarra Shoalhaven Local Health District.

Our team of clinical geneticists and genetic counsellors assist with exploring:

  • genetic diagnosis
  • genetic testing options
  • evaluation and explanation genetic test results
  • providing information/support to individuals and families as they adjust to diagnosis.

We also provide support to non-genetic specialists and health care providers (paediatricians, GPs, sub-specialists and others) caring for individuals and families with genetic conditions.

We accept outpatient referrals for children and adults living in Eastern Sydney and for children from other Local Health Districts already accessing services at Sydney Children’s Hospital, Randwick.

Referral process for clinicians

Our department is using Consultmed to manage referrals. The Consultmed platform allows health professionals to send e-referrals to us securely.   

Consultmed questions and technical support:

Referral and appointment process for parents and carers

Request a referral

To make an appointment at our clinic, you will need a referral from your GP, paediatrician or specialist. 

They will assess your child, discuss your concerns, and make a referral to the appropriate service.  

Track your referral

Our department uses Consultmed to manage referrals. Your referring clinician sends the e-referral to us using the secure Consultmed platform.  

Once we receive the referral, we will send you an email with your tracking information. We will update you as we process the referral and book your appointment. 

To receive these updates, please ask your referring clinician to include your email on the referral.  

If your clinician has questions about Consultmed or require technical support, they can contact  

Need support?

If you need help or have questions about the referral and appointment process, please contact us.

Clinic information

General Paediatric Genetics clinic

This clinic is responsible for the diagnosis, management and genetic counselling of children with a known or possible genetic condition.

Complex referrals or cases where a child is already a regular patient at Sydney Children’s Hospital, Randwick, will be considered.

Out-of-area referrals for initial diagnosis of uncomplicated genetic conditions will be directed to the genetics service of the patient's local health district.

Referrals are triaged by a member of the clinical genetic team and allocated to either a telehealth appointment or a face-to-face appointment at the appropriate clinic. A genetic counsellor may contact new patients before their clinic visit for previous medical information and results.

Incorrect referrals or insufficient information will be returned to the referring doctor. Requests to see a specific geneticist can be considered but are not always possible.

Clinic function: Diagnosis, assessment and genetic counselling of children with a suspected or confirmed rare genetic or chromosomal diagnosis, multiple congenital anomalies, dysmorphic features and/or intellectual disability.


  • Children: Outpatient department, level 0, Sydney Children’s Hospital, Randwick
  • Young adults: Bright Alliance building, level 7, corner of Avoca and High Street 

Advice and guidance for healthcare professionals:

Email service is for health care professionals managing patients and families with known or possible genetic conditions within the Sydney Children’s Hospital, Randwick, South Eastern Sydney Local Health

  • Please email
  • This email is for non-urgent advice and guidance only
  • A genetic counsellor will triage your request and provide written advice within 1-2 business days
  • Please ensure that you have provided us with your best available contact number in case we need to call you back
  • This email account is not checked on weekends or public holidays. 

Urgent referrals: Phone the hospital switchboard on (02) 9382 1111 and ask to page the on-call genetics fellow, clinical geneticist or genetic counsellor. 

Kids Cancer Genetics clinic

The Kids Cancer genetics clinic provides care for children and adolescents with a suspected or known increased genetic risk of tumours and/or cancer.

The clinic team is responsible for diagnosis, genetic counselling, risk assessment, ongoing management and surveillance to support a holistic, child and family-centred approach to care.

The clinic is part of the Kids Cancer Centre. We see children and adolescents in the outpatient clinic on C2North, located on Level 2 Sydney Children’s Hospital Randwick.

Prenatal clinic at the Royal Hospital for Women

The prenatal clinic is for women and their partners with a personal or family history of an inherited condition, fetal abnormality that may be a genetic disorder, or high-risk results on aneuploid screening.

We provide counselling and facilitate genetic testing and prenatal diagnosis, including Chorionic villus sampling (CVS) and amniocentesis.

Thalassaemia referrals:

Please order FBC, HbEPG, iron studies in both partners. Only refer to genetics if abnormalities are identified in both.

Referral indications include:

  • increased-risk aneuploidy results on screening
  • diagnosis or suspected fetal abnormality
  • personal or family history of a chromosomal/genetic condition
  • couples at increased reproductive risk (eg both known carriers of a recessive condition, consanguinity). 

We do not accept referrals for:

  • teratogen, please refer to MotherSafe
  • couples or individuals for reproductive carrier screening (currently available through GPs, obstetricians, private genetic counsellors and some women’s ultrasound services)
  • individuals who have had (or are considering) ‘direct to consumer’ genetic testing
  • individuals who have had (or are requesting) genetic testing relating to paternity. 

Include in referral:

  • investigations/treatment to date
  • significant medical and family history
  • any relevant social information
  • an indication for the preferred language if an interpreter is required

Clinic details: 

Wollongong Hospital genetic service

The service provides regular outreach clinics to children and adults at Wollongong Hospital. A local genetic counsellor is available for all enquiries.

Please note: There is no administration support, there may be a delay in returning voicemail or email enquiries. If the matter is urgent, please get in touch with the on-call genetics fellow or genetic counsellor (see The General Paediatrics Genetics clinic). 


Appointment information for families

Before the appointment

You've been referred to a clinical genetics service at the hospitals. You may already know your family has a genetic condition and want more information or wonder if someone in your family has a genetic condition.

At your appointment, we will talk with you about genetic conditions and do our best to answer any questions you have.

One of our genetic counsellors may contact you by phone or email to gather more information. For example, they may ask about your family health history to help us understand more about your/your child’s health conditions and how we can best support you and your family.

The appointment may be face-to-face or by confidential video link (telehealth).

Please bring your child’s “Blue Book” (Personal Health Record book), any specialist letters or relevant health information, and a Medicare card, if you have one.

Let us know if you want to invite a family member or friend. Feel free to bring a list of questions with you.

During the appointment

At the appointment, you'll see a genetic doctor and/or a genetic counsellor.

We sometimes have medical students or doctors and genetic counsellors in training; we will ask you if it is ok for them to join the appointment.

The appointment will last about 1 hour. We'll discuss your family history and you/your child’s health. We may examine you and/or your child. If you say it is ok, we may take photographs for the medical record.

We will discuss genes and how they can be linked to health problems. We can also explain any tests we recommend and what the results could mean.

We understand you might be worried about your or your child’s health. We will do our best to answer your questions and provide support. We offer tests if we think it could help with your/your child’s health care. But it is your choice. You do not have to have a genetic test if you do not think it is right for you, or your child.

At the end of the appointment, we can talk about the next steps for you/your child or your family.

After the appointment

We will write to your doctor(s) after the genetics appointment. It will include a summary of the patient's health issues, any planned tests, the results of tests, and helpful resources.

The letter may include information about any planned future visits with the genetics service. We often send you a copy of the letter too.

Last updated Sunday 4th February 2024

Patient and family support

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Our Aboriginal Hospital Liaison and Education officers play an important role in the care and welfare of and advocacy for Aboriginal patients and families, helping ensure a responsive and respectful patient journey.
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