Clinical Genetics at The Children's Hospital at Westmead

The Clinical Genetics service at The Children's Hospital at Westmead 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 of WSLHD.

See specific clinic details below.

General Paediatric Genetics Clinic

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.

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

Referral Information

Our department uses Consultmed to manage referrals from clinicians. The Consultmed platform allows you to send e-referrals to us securely. Create an account to get started.

All referrals must be addressed to a consultant clinical geneticist. If unsure, please address to the Head of Department: A/Prof Kristi Jones

All referrals must include the following:

• Patients name
• Patients Date of birth
• Address
• Contact number
• Reason for referral
• Investigations/treatment to date
• Significant medical and family history
• Any relevant social information

Please indicate preferred language if an interpreter is required.

All referrals are triaged by the genetics team and allocated to General Genetics Clinic or another specialised Genetics service if appropriate. Inappropriate 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 clinic coordinator Tina Willmore on 9845 3205 if you require any further clarification before referring.

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.

Urgent referrals

Phone the Hospital switchboard on 02 9845 0000 and ask to page the on-call Genetics Fellow, Geneticist or Genetic Counsellor

Enquiries

• Department of Clinical Genetics
• Phone: 02 9845 3273
• Email: SCHN-CHW-ClinicalGenetics@health.nsw.gov.au

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, but there are many others. 

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

Consultants

• Prof A Zankl (Clinical Genetics)
• Dr L Tofts (Rehabilitation)
• Dr A Biggin
• Dr M Poon

Diagnostic Evaluation

For children with a suspected diagnosis of Osteogenesis Imperfecta, referral should be addressed to Dr Andrew Biggin or Dr Myra Poon and should include: 

• A detailed description of the child's medical history, including any relevant family history
• Results of biochemical investigations
• Results of bone density scans (if already performed)

 For children with all other types of bone dysplasias, referral should be addressed to Prof Andreas Zankl and should include:

• A detailed description of the child's medical history, including any relevant family history
• A complete skeletal survey on CD

Referral information for clinicians

A GP or specialist can refer children.

Our department is using Consultmed to manage referrals securely. Create an account to get started.

Referral requirements vary depending on the type of disorder and if the referral is for diagnosis or management.

Urgent referrals

• Phone the Hospital switchboard on 9845 0000 and ask to page the on-call Fellow in Genetics to discuss your requirements.

Referrals and appointment information for parents and carers

• Our department uses Consultmed to manage referrals. The Consultmed platform allows you to send e-referrals to us securely. Create an account to get started.

• Phone: (02) 9845 3205

Connective Tissue Dysplasia Clinic (CTD) 

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

• Where: Children's Assessment Centre (CAC), Level 3, The Children's Hospital at Westmead
• When:  Tuesdays, 9.30am - 12.30pm

NOTE: Ehlers Danlos syndrome type 3, hypermobility and/or joint laxity alone without one or more of the below ‘red flags’ is NOT an indication for genetics referral:

• A 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.

Consultants

• Clinical A/Prof Lesley Adès (Clinical Genetics)
• Dr Alan Ma (Clinical Genetics)
• Dr Louise Tofts (Rehabilitation)

Referral Information

Our department uses Consultmed to manage referrals from clinicians. The Consultmed platform allows you to send e-referrals to us securely. Create an account to get started.

All referrals must be addressed to a consultant clinical geneticist: Dr Lesley Adès or Dr Alan Ma.

Children MUST:

• Be referred by a paediatrician
• Have a paediatric cardiologist review including an echocardiogram AND an eye examination to look for features of a connective tissue dysplasia syndrome before they are referred to our clinic.

All referrals must include the following:

• Patients name
• Patients Date of birth
• Address
• Contact number
• Reason for referral
• Investigations/treatment to date
• Significant medical and family history
• Any relevant social information
• Detailed description of the patient's medical history and relevant family history
• Detailed description of clinical examination findings, specifically addressing the presence or absence of features suggestive of a connective tissue dysplasia
• Echocardiogram report, addressing the presence or absence of features suggestive of a connective tissue dysplasia
• Ophthalmologist's report, addressing the presence or absence of findings suggestive of a connective tissue dysplasia.

Please indicate preferred language if an interpreter is required.

Referrals without the information above will not be accepted.

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

Referrals for advice on management and rehabilitation needs should be addressed to Dr Louise Tofts, Rehabilitation Department, Children’s Hospital Westmead.

Urgent referrals

Phone the Hospital switchboard on 9845 0000 and ask to page the on-call Genetics Fellow, Geneticist or Genetic Counsellor.

Enquiries

Department of Clinical Genetics

• Phone: 02 9845 3273
• Email: SCHN-CHW-ClinicalGenetics@health.nsw.gov.au

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 LHD.

• Where: Children's Assessment Centre (CAC), Level 3, The Children's Hospital at Westmead
• When:  Wednesdays, 2pm - 5pm

Consultants

• Dr S Ardern-Holmes (Neurologist)
• Clinical A/Prof K Jones (Clinical Geneticist)
• Dr S Josephi-Taylor (Clinical Geneticist)
• Dr M Lorentzos (Neurologist)
• Dr M Menezes (Neurologist)
• Dr S Sandaradura (Clinical Geneticist)
• Dr E Tantsis (Neurologist)
• Dr R Webster (Neurologist)
• Dr H Young (Neurologist)

Clinical Nurse Specialists

Lisa Tang ( Neuromuscular Clinical Nurse Specialist)
Sally Maspero (Neurofibromatosis Clinical Nurse Specialist)

Referral Information

Our department uses Consultmed to manage referrals from clinicians. The Consultmed platform allows you to send e-referrals to us securely. Create an account to get started.

Initial referrals must be from a specialist while subsequent referrals must be from a registered medical practitioner (GP or specialist). Requests to see a specific geneticist or neurologist can be considered, but are not always possible. All appointment requests are triaged by clinical staff and appointments may be allocated to another Clinic (Genetics or Neurology) 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 9845 0000 and ask to page the on-call Neurogenetics Fellow.

Enquiries

Department of Clinical Genetics

Neurogenetics Clinical Service via (Daralyn Hodgson, Manager Neurogenetics Clinical Services)

• Phone: 02 9845 1325
• Email: SCHN-CHW-Neurogenetics@health.nsw.gov.au

Neuromuscular Management

Neuromuscular Management is a multidisciplinary management clinic 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 Management Team.

• Where: Occupational Therapy Department, Level 2, The Children's Hospital at Westmead
• When:  Wednesdays, 2pm - Monthly

Staff

• Dr Angie Morrow, Rehabilitation Specialist
• Lisa Tang, Neuromuscular Clinical Nurse Specialist

Referral Information

Our department uses Consultmed to manage referrals from clinicians. The Consultmed platform allows you to send e-referrals to us securely. Create an account to get started.

All referrals must be addressed to Dr Angie Morrow.

Enquiries

Department of Clinical Genetics

Neurogenetics Clinical Service via (Daralyn Hodgson, Manager Neurogenetics Clinical Services)

• Phone: 02 9845 1325
• Email: SCHN-CHW-Neurogenetics@health.nsw.gov.au

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.

• Where: Children's Assessment Centre (CAC), Level 3, The Children's Hospital at Westmead
• When:  Mondays, Monthly

Staff

• Prof A Zankl, Clinical Geneticist 
• Dr Louise Tofts, Rehabilitation specialist

Referral Information

Please note: this clinic is multidisciplinary, held in conjunction with the Kids Rehab Limb Clinic. Patients referred to both genetics and Kids Rehab will be seen at same day appointment wherever possible.

All referrals must include the following:

• Patients name
• Patients Date of birth
• Address
• Contact number
• Reason for referral
• Investigations/treatment to date
• Significant medical and family history
• Any relevant social information

Please indicate preferred language if an interpreter is required.

All Clinical Genetics referrals must be addressed to a consultant clinical geneticist: A/Prof Meredith Wilson. Genetics appointments are booked via the genetics department. Queries re: appropriate referrals to genetics can be directed to Lucy Kevin, genetic counsellor.

A separate referral to a Kids Rehab specialist (Dr Louise Tofts) is usually required for all new referrals. Kids Rehab appointments are booked via:

• Phone: 02 9845 2131
• Email: SCHN-CHW-KidsRehab@health.nsw.gov.au

Urgent Referrals

For urgent genetics referrals contact the CHW Switchboard (02 9845 0000) and ask to page the on-call Genetics Fellow, Geneticist or Genetic Counsellor.

Genetic Dermatology Clinic (with Dermatology Department)

The Genetic Dermatology 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.

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

Consultants

• Clinical A/Prof Lesley Adès (Clinical Geneticist)
• Dr Alan Ma (Clinical Geneticist)
• Dr Sarah Josephi-Taylor (Clinical Geneticist)
• Dr Sarah Sandaradura (Clinical Geneticist)
• Dr Janine Smith (Clinical Geneticist)
• Consultant dermatologists from CHW Dept Dermatology

Referral Information

All referrals must be addressed to a consultant Clinical Geneticist. If unsure, please address to head of department (Clinical A/Prof Kristi Jones).

All referrals must include the following:

• Patients name
• Patients Date of birth
• Address
• Contact number
• Reason for referral
• Investigations/treatment to date
• Significant medical and family history
• Any relevant social information

Please indicate preferred language if an interpreter is required.

All referrals are triaged by a Clinical Geneticist and allocated to either Genetic Dermatology Clinic or General Paediatric Genetics Clinic if more appropriate. Inappropriate referrals or referrals with insufficient information will be returned to the referring doctor. Requests to see a specific Clinical Geneticist can be considered but are not always possible. Please contact clinic coordinator Tina Willmore on 9845 3205 if you require any further clarification before referring.

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

Urgent referrals

Phone the Hospital switchboard on 9845 0000 and ask to page the on-call Genetics Fellow, Geneticist or Genetic Counsellor.

Enquiries

Department of Clinical Genetics

• Phone: 02 9845 3273
• Email: SCHN-CHW-ClinicalGenetics@health.nsw.gov.au

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.

• Where: Eye Clinic, Level 3, The Children's Hospital at Westmead
• When:  Mondays, 1.30 pm - Monthly

Consultants

• Prof Robyn Jamieson (Clinical Geneticist)
• Dr Kate Leahy (Ophthalmologist)

Referral Information

Our department uses Consultmed to manage referrals from clinicians. The Consultmed platform allows you to send e-referrals to us securely. Create an account to get started.

All Genetics referrals must be addressed to a consultant clinical geneticist as above.

All referrals must include the following:

• Patients name
• Patients Date of birth
• Address
• Contact number
• Reason for referral
• Investigations/treatment to date
• Significant medical and family history
• Any relevant social information

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 9845 0000 and page on-call Fellow in Genetics or Clinical Geneticist.

Enquiries

Department of Clinical Genetics

• Phone: 02 9845 3273
• Email: SCHN-CHW-ClinicalGenetics@health.nsw.gov.au

Craniofacial Genetic Counselling (including Craniofacial Clinic)

The Craniofacial Clinic is a multidisciplinary clinic for diagnosis, assessment and treatment of craniofacial malformations, 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.

Appointments: 02 9845 0918

Consultants

• Dr D Marucci (Plastic Surgery)
• Dr R Gates (Plastic Surgery)
• Dr J Smith (Clinical Geneticist)

Referral Information

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

For Craniofacial surgery, contact the Hospital switchboard, 9845 0000 and page on-call Registrar. For Genetics, page on-call Fellow in Genetics or Clinical Geneticist via the switchboard.

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.

• Where: Women's Health Clinics, Westmead Hospital
• When:  Tuesdays, 9.30am – 12.30pm

For thalassaemia referrals, PLEASE order FBC, HbEPG, iron studies in both partners. Only refer to genetics if abnormalities identified in both.

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.

Genetic Counsellor - Prenatal  Service Lead 

• Lucy Kevin

Consultants

Westmead Hospital consultants

• Dr Bernadette Hanna (Clinical Geneticist)

Children’s Hospital at Westmead consultants

• Clinical A/Prof Lesley Adès
• Dr Alan Ma
• Dr Sarah Sandaradura

Referral Information

Our department uses Consultmed to manage referrals from clinicians. The Consultmed platform allows you to send e-referrals to us securely. Create an account to get started.

Please clearly indicate that the referral relates to a current pregnancy and include EDD.

Due to the urgent nature of these cases, please call our department to check the referral has been received.

Please include your name and contact details.

All Genetics referrals must be addressed to a consultant clinical geneticist. If unsure, please address to head of department (Clinical A/Prof Kristi Jones).

All referrals must include the following:

• Patients name
• Patients Date of birth
• Address
• Contact number
• Reason for referral
• EDD/LMP
• Investigations/treatment to date
• Significant medical and family history
• Any relevant social information

Please indicate preferred language if an interpreter is required.

Urgent referrals

For urgent referrals or to discuss a clinical concern, contact the CHW Switchboard (02 9845 0000) and ask to page the on-call Genetics Fellow, Geneticist or Genetic Counsellor.

Enquiries

Department of Clinical Genetics

• Phone: 02 9845 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

Genetic counselling for a current pregnancy is provided by Clinical Genetics at Children’s Hospital Westmead.

• Phone: 02 9845 3273
• Email: SCHN-CHW-ClinicalGenetics@health.nsw.gov.au

Outreach Clinics

The Department of Clinical Genetics at 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

Please note: appointments are accessed via Bathurst office

Urgent referrals

For urgent referrals or to discuss a clinical concern, first contact the local genetic counsellor, but if not available, call CHW Switchboard (02 9845 0000) and ask to page the on-call Genetics Fellow, Geneticist or Genetic Counsellor.

Referral guides

• Clinical Genetics referral guide
• Out of area referrals guide
• Chromosome microarray referrals
• Connective Tissue Dysplasia genetic referrals
• Thalassaemia testing, Autism Spectrum disorder & MTHFR resource guide
• Consanguinity & Teratogen exposure referral information