Clinical genetics, The Children's Hospital at Westmead

Contact

Phone: (02) 7825 3273 

Adult genetics: (02) 8890 9780 

Email: SCHN-CHW-ClinicalGenetics@health.nsw.gov.au

Mailing address: Department of Clinical Genetics, The Children’s Hospital at Westmead, Locked Bag 4001, Westmead NSW 2145

About our service

Clinical genetics is the specialty of medicine that involves the diagnosis and management of hereditary disorders. It also includes genetic counselling for individuals and families with, or at risk of genetic conditions. 

The Clinical Genetics service provides consultation and counselling regarding diagnosis and therapy for children with:

  • inheritable disorders
  • chromosomal abnormalities
  • dysmorphic syndromes
  • non-syndromic congenital anomalies
  • familial cancer. 

Genetic consultation and counselling are also offered in association with most other clinical services in the hospital.

Outreach genetics clinics are provided to the Western NSW Health District at Dubbo and at Orange. 

Prenatal genetics services are offered to couples that are part live within the Western Sydney Local Health District catchment area. 

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: helpdesk@consultmed.co

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 helpdesk@consultmed.co.  

Need support?

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

Phone: (02) 7825 3273 

Email: SCHN-CHW-ClinicalGenetics@health.nsw.gov.au

 

Clinic information

General paediatric genetics clinic

The clinic diagnoses 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.

Please let us know your preferred language if an interpreter is required.

A genetic counsellor will usually contact new patients before their clinic visit to obtain a preliminary family tree and check if relevant previous medical information and results are available.

Referrals:

Referrals are triaged by the genetics team and allocated to the appropriate clinic or service. 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. Please get in touch with the clinic coordinator on (02) 7825 3205 if you require any further clarification before referring.

Urgent referrals: Phone the hospital switchboard on (02) 7825 0000 and ask to page the on-call genetics fellow, geneticist or genetic counsellor. 

Bone dysplasia clinic

The bone dysplasia clinic provides diagnostic advice and tertiary management for children with bone dysplasias.

Bone dysplasias are rare genetic disorders affecting skeletal development and typically present with skeletal abnormalities such as limb or spine deformities, short stature, or bone fragility.

Common examples include Achondroplasia and Osteogenesis Imperfecta. 

This clinic does not cater for children with Connective Tissue Disorders such as Marfan Syndrome, Ehlers-Danlos Syndrome and Hypermobility Syndrome. For these disorders, see Connective Tissue Dysplasia clinic below.

  • Where: Children's Assessment Centre (CAC), Level 3, The Children's Hospital at Westmead
  • When:  Tuesdays, 9:30am - 12:30pm

Urgent referrals: Phone the hospital switchboard on (02) 7825 0000 and ask to page the on-call fellow in genetics to discuss your requirements.

Connective Tissue Dysplasia (CTD) clinic

The Connective Tissue Dysplasia (CTD) clinic provides a tertiary diagnostic advice and tertiary rehabilitation services for children with Connective Tissue Disorders such as Marfan Syndrome or genetic forms of Ehlers-Danlos Syndrome.

Please let us know preferred language if an interpreter is required.

The Clinical Genetics Department does not provide ongoing management for children with Connective Tissue Dysplasias.

Note: Ehlers Danlos syndrome type 3, hypermobility and/or joint laxity must have one or more of the below to be eligible for referral

  • personal or family history of one or more of the following ‘red flags’, in the presence of hypermobility (Beighton score >4 in adults, >6 in children)
  • echocardiogram evidence of thoracic aortic enlargement, vascular dissection or extensive varicosities
  • ectopia lentis
  • extensive widened atrophic scars and poor would healing/ recurrent large hernias
  • severe scoliosis
  • personal/family history of organ rupture
  • recurrent pneumothoraces.

Clinic details: 

Urgent referrals: Phone the hospital switchboard on (02) 7825 0000 and ask to page the on-call fellow in genetics to discuss your requirements.

Neurogenetics clinic

The Neurogenetics Clinic is responsible for diagnosis, management and genetic counselling of children with neuromuscular disorders and complex neurocutaneous disorders (neurofibromatosis and tuberous sclerosis).

Referrals for initial diagnosis of uncomplicated neurocutaneous disorders, including neurofibromatosis, will be directed to the genetics service of the individual’s local health district. 

Urgent referrals: Phone the hospital switchboard on (02) 7825 0000 and ask to page the on-call neurogenetics fellow.

Neuromuscular management clinic 

The clinic is for children with neuromuscular disorders, including muscular dystrophies, myotonic dystrophy and spinal muscular atrophy.

Children referred to this clinic will usually have been seen previously through the Neurogenetics clinic or by a neurologist, but direct referrals from paediatricians can also be accepted after discussion with the Neuromuscular department. 

Genetic limb clinic (with Rehabilitation department)

The Genetic limb clinic is responsible for the assessment of children with congenital limb abnormalities, for diagnosis, genetic investigation and genetic counselling.

Please indicate preferred language if an interpreter is required.

Please note: this clinic is held in conjunction with the Kids Rehab Limb clinic. Patients referred to both genetics and Kids Rehab will be seen at a same day appointment wherever possible. A separate referral to a Kids Rehab is usually required for all new referrals. 

Urgent referrals: Phone the hospital switchboard on (02) 7825 0000 and ask to page the on-call fellow in genetics to discuss your requirements.

Genetic dermatology clinic (with Dermatology department)

The clinic is responsible for the diagnosis, genetic testing and genetic counselling of children with prominent dermatologic features e.g. ectodermal dysplasias, vascular malformations, hypopigmentation or hyperpigmentation (not suspected NF1).

Consultant dermatologists join in diagnostic assessment and provide skin treatment advice as indicated.

Please indicate preferred language if an interpreter is required.

Referrals:

Referrals are triaged by the genetics team and allocated to the appropriate clinic or service. 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. Please phone the clinic coordinator on (02) 7825 3205 if you require any further clarification before referring.

A genetic counsellor will usually contact new patients prior to their clinic visit to for relevant previous medical information. 

Urgent referrals: Phone the hospital switchboard on (02) 7825 0000 and ask to page the on-call genetics fellow, geneticist or genetic counsellor. 

Genetic eye clinic (with Ophthalmology department)

The Genetic Eye Clinic is responsible for the diagnosis, assessment and genetic counselling of children and families with genetic eye disorders, especially where examination of multiple family members (parents and siblings) is required for genetic counselling.

Examples include Retinitis pigmentosa, Leber Congenital Amaurosis, Stargardt disease, Cone-rod dystrophies, Aniridia and ocular anterior segment disorders.

Please indicate preferred language if an interpreter is required.

All appointment requests are triaged by clinical staff and allocated to either Genetic Eye or another Genetics Clinic if more appropriate.

A Genetic Counsellor will usually contact new referrals prior to clinic visit to obtain a preliminary family tree and check if relevant previous medical information is available.

Urgent referrals: Phone the hospital switchboard on (02) 7825 0000 and ask to page the on-call genetics fellow, geneticist or genetic counsellor. 

Craniofacial genetic counselling (including Craniofacial clinic)

The Craniofacial clinic is for diagnosis, assessment and treatment of craniofacial malformations, and is coordinated through the Plastic Surgery department.

It is attended by staff from plastic surgery, neurosurgery, orthodontics and genetics. The clinic format does not permit formal genetic counselling, but patients requiring genetic counselling will be identified and options for follow-up suggested.

  • Where: Outpatients clinic, level 2, The Children's Hospital at Westmead
  • When:  Friday 9am - 2 pm, every two weeks, a clinical geneticist attends every 4 weeks.
  • Phone: (02) 7825 0918

Referrals:

Referrals for the Craniofacial clinic are made through the secretary of the Craniofacial unit. Patients being referred specifically for genetic diagnosis and counselling for craniofacial disorders should be referred to a general Genetics clinic (paediatric or adult).

Urgent referrals: Phone the hospital switchboard on (02) 7825 0000 and ask to page the on-call genetics fellow, geneticist or genetic counsellor. 

Prenatal clinic (Westmead Hospital)

The Prenatal clinic is for women and their partners who have a personal or family history of an inherited condition, or a fetal abnormality suggestive of an underlying genetic disorder.

Due to the urgent nature of these cases, please call our department to check the referral has been received. Please indicate preferred language if an interpreter is required.

  • Where: Women's Health Clinics, Westmead Hospital
  • When:  Tuesdays, 9:30am – 12:30pm

This clinic does not accept referrals for:

  • couples or individuals for reproductive carrier screening without a family history of a recessive genetic disorder
  • pregnant women with a high risk due to advanced maternal age or first trimester screening investigations, who have not yet had a diagnostic test
  • couples who have had recurrent miscarriages where the cause is not due to a chromosomal anomaly
  • consanguinity
  • teratogen exposure.

Urgent referrals: Phone the hospital switchboard on (02) 7825 0000 and ask to page the on-call genetics fellow, geneticist or genetic counsellor. 

Department of Clinical Genetics and Genetic counselling for a current pregnancy is provided by Clinical Genetics at The Children’s Hospital at Westmead

Genetic counselling for familial cancer is provided by the Familial Cancer Service at Westmead Hospital

Outreach clinics

The Clinical Genetics department at The Children's Hospital at Westmead provides regular outreach clinics to adults and children of the Greater Western Local Health District, with clinics in Orange and Dubbo.  

The clinics are coordinated by the local genetic counsellors based at Bathurst and Dubbo.

Please note: If patients live closer to another clinical genetics service which can offer an appropriate service for the patient, we may recommend contacting that service, as waiting lists are often shorter elsewhere. Not all sites offer a full range of sub-specialty genetics clinics.

Bathurst counsellor contact details:

  • Western NSW Genetics Service
  • Bathurst Community Health Centre
  • Howick Street, Bathurst, NSW 2795
  • Phone: (02)6330 5677

Dubbo counsellor contact details:

  • Western NSW Genetics Service
  • Dubbo Community Health Centre
  • 2 Palmer Street, Dubbo, NSW 2830

  • Phone: (02) 5853 2500


Orange counsellor contact details:

  • Community Health Centre
  • 96 Kyte Street, Orange, NSW 2800
  • Phone: (02) 6330 5677
  • appointments via Bathurst office

Our research

Our research is integrated into the Western Sydney Genetics Program based at both The Children’s Hospital at Westmead and the Sydney Children's Hospital, Randwick.

Last updated Monday 19th February 2024

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