Clinical Genetics at The Children's Hospital at Westmead

Contact details

Clinic appointments: 9845 3273 or fax 9845 3204

Adult genetics appointments or enquiries: 8890 9780 or fax 8890 9789.

Doctors wishing to discuss referral requirements please call 9845 3273.

Referrals for adult familial cancer counselling please call 8890 6947.

Outreach clinics details are listed at the end of the page.

The Clinical Genetics service at The Children's Hospital at Westmead provides consultation and counselling regarding diagnosis and therapy for children and adults with:

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

Genetic diagnostic consultation and counselling are also offered in association with the following clinics:

  • Limb Deficiency clinic (with Rehabilitation)
  • Craniofacial clinic (with Plastic Surgery)
  • Outreach genetics clinics are provided to the Western NSW Health District at Dubbo and at Orange

See specific clinic details below.

General Paediatric Genetics Clinic

The General Paediatric Genetics Clinic is responsible for the 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:  Thursdays, 9am - 12pm

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.

Consultants

  • Clinical A/Prof Lesley Adès
  • Clinical A/Prof Kristi Jones
  • Dr Sarah Josephi-Taylor
  • Dr Alan Ma
  • Dr Sarah Sandaradura
  • Dr Janine Smith
  • Clinical A/Prof Meredith Wilson

Referral Information

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 a geneticist and allocated to either General Genetics Clinic or another specialised Genetics Clinic if more appropriate. Inappropriate referrals or referrals with insufficient information will be returned to the referring doctor. Requests to see a specific 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 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

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)
  • A/Prof C Munns (Endocrinology)
  • Dr L Tofts (Rehabilitation)

Diagnostic Evaluation

For children with a suspected diagnosis of Osteogenesis Imperfecta, referral should be addressed to A/Prof Craig Munns 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

Children can be referred by a GP or specialist. All referrals should be in writing. 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.

Appointment Enquiries

  • 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

All Genetics 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

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

All referrals must be addressed to an attending specialist listed above. Email or fax the referral to Daralyn Hodgson, Manager Neurogenetics Clinical Services.

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)

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

All referrals must be addressed to Dr Angie Morrow. Email or fax the referral to Daralyn Hodgson, Manager Neurogenetics Clinical Services.

Enquiries

Department of Clinical Genetics

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

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

  • Clinical A/Prof Meredith Wilson, 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:

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)
  • Clinical A/Prof M Wilson (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 (Dr Janine Smith or 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

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 Maree Flaherty (Ophthalmologist)

Referral Information

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

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 Genetics Clinic (Westmead Hospital)

Adult Genetics Clinic (Westmead Hospital)

The Adult Genetics Clinic is responsible for the diagnosis, assessment and genetic counselling of adults with, or with a family history of, genetic disorders, syndromes or chromosomal abnormalities.

  • Where: University Clinic B, Westmead Hospital
  • When:  Mondays and Tuesdays, 2-5pm
  • Appointments: 02 9845 0918

Consultants

Westmead Hospital consultants

  • Dr Bernadette Hanna (Clinical Geneticist)
  • Children’s Hospital at Westmead consultants also attend

Referral Information

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. Requests to see a specific geneticist can be considered, but are not always possible.

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

Contact the Westmead Hospital switchboard on 02 8890 5555 and page the Westmead Fellow in Genetics.

Enquiries

Department of Genetic Medicine, Westmead Hospital

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

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

More information

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.

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
  • Clinical A/Prof Meredith Wilson

Referral Information

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 (Dr Janine Smith or 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

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

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

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
  • Fax: 02 6331 0474

Dubbo counsellor contact details

Western NSW Genetics Service

Dubbo Community Health Centre

2 Palmer Street, Dubbo, NSW 2830


  • Phone: 02 5853 2500

  • Fax: 02 5853 2580

Orange counsellor contact details

Community Health Centre

96 Kyte Street, Orange, NSW 2800

  • Phone: 02 6330 5677
  • Fax: 02 6331 0474

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