Clinical genetics, The Children's Hospital at Westmead

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.

• Where: Children's Assessment Centre (CAC), level 3, The Children's Hospital at Westmead
• When:  Thursdays, 9am - 12pm
• Phone: (02) 7825 3273
• Email: SCHN-CHW-ClinicalGenetics@health.nsw.gov.au

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. 

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.

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: 

• Where: Children's Assessment Centre (CAC), level 3, The Children's Hospital at Westmead
• When:  Tuesdays, 9:30am - 12:30pm
• Phone: (02) 7825 3273
• Email: SCHN-CHW-ClinicalGenetics@health.nsw.gov.au

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

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. 

• Where: Children's Assessment Centre (CAC), level 3, The Children's Hospital at Westmead
• When:  Wednesdays, 2pm - 5pm
• Phone: (02) 7825 1325
• Email: SCHN-CHW-Neurogenetics@health.nsw.gov.au

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

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. 

• Where: Occupational Therapy department, level 2, The Children's Hospital at Westmead
• When:  Wednesdays, 2pm, monthly
• Phone: (02) 7825 1325
• Email: SCHN-CHW-Neurogenetics@health.nsw.gov.au

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. 

• Where: Children's Assessment Centre (CAC), level 3, The Children's Hospital at Westmead
• When:  Mondays, monthly
• Phone: (02) 7825 2131
• Email: SCHN-CHW-KidsRehab@health.nsw.gov.au

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

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. 

• Where: Children's Assessment Centre (CAC), level 3, The Children's Hospital at Westmead
• When: Thursdays, 9am - 12pm, every 3 months
• Phone: (02) 7825 3273
• Email: SCHN-CHW-ClinicalGenetics@health.nsw.gov.au

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

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.

• Where: Eye Clinic, Level 3, The Children's Hospital at Westmead
• When:  Mondays, 1:30pm, monthly
• Phone: (02) 7825 3273
• Email: SCHN-CHW-ClinicalGenetics@health.nsw.gov.au

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

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. 

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

• Phone: (02) 7825 3273
• Email: SCHN-CHW-ClinicalGenetics@health.nsw.gov.au

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

• Phone: 02 8890 6947
• Email: WestmeadFCS@health.nsw.gov.au

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