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

Location

Children's Assessment Centre (CAC) Level 3

Appointments

Ph: 9845 3205

Consultants *

Dr L Adès
A/Prof K Jones
Dr A Ma
Dr S Sandaradura
Dr J Smith
A/Prof M Wilson 

Clinic days

Thursdays 9am - 12pm

Method of referring

Referrals can be made either by phoning the Clinical Genetics Secretary on 9845 3205, followed by written referral from referring doctor, or directly by written referral from doctor. Referrals must be from a registered medical practitioner (GP, specialist or consultant) and directed to a clinical geneticist by name. All appointment requests are triaged by clinical staff and allocated to either General Genetics Clinic or another specialised Genetics Clinic if more appropriate. Requests to see a specific geneticist can be considered, but are not always possible.

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.

Clinic function

Diagnosis, assessment and genetic counselling of children with single or multiple congenital anomalies, dysmorphic features, syndromes, chromosomal disorders, disorders of special senses or of organ systems, serious developmental delay or unexplained abnormalities of growth.

Urgent referrals

Contact the Hospital switchboard on 9845 0000 and page the on-call Fellow in Genetics or the Clinical Geneticist

Bone Dysplasia Clinic

Location

Children's Assessment Centre (CAC) Level 3

Appointments

Ph: 9845 3205

Consultants *

Prof A Zankl (Clinical Genetics)
A/Prof C Munns (Endocrinology)
Dr L Tofts (Rehabilitation)

Clinic days

 Tuesdays, 9:30am - 12.30pm

Method of referring

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.

Clinic Function

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.

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

Tertiary Management

The bone dysplasia clinic only provides tertiary management for specific complications associated with bone dysplasias. Every child referred to the clinic should have a primary physician (GP or Paediatrician).

  • Referrals for ongoing management of children with a confirmed diagnosis of Achondroplasia or Hypochondroplasia should be addressed to Dr Louise Tofts, Rehabilitation Department, Children’s Hospital Westmead
  • Referrals for ongoing management of children with a confirmed diagnosis of Osteogenesis Imperfecta should be addressed to A/Prof Craig Munns, Endocrinology Department, Children’s Hospital Westmead
  • Referrals for ongoing management of children with other types of bone dysplasias should be addressed to Prof Andreas Zankl, Clinical Genetics Department, Children’s Hospital Westmead

 Urgent referrals

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

 

Connective Tissue Dysplasia Clinic (CTD)

Location

Children's Assessment Centre (CAC) Level 3

Appointments

Ph: 9845 3205

Consultants *

Dr L Adès (Clinical Genetics)
Dr A Ma (Clinical Genetics)
Dr L Tofts (Rehabilitation)

Clinic days

Tuesdays, 9.30am - 12.30pm

Method of referring

All referrals should be in writing. Referral requirements vary depending on the reason for referral and where the child lives.

Clinic function

The Connective Tissue Dysplasia Clinic provides tertiary diagnostic advice and tertiary rehabilitation services for children with Connective Tissue Disorders such as Marfan Syndrome, Ehlers-Danlos Syndrome and Hypermobility Syndrome. The clinic is a tertiary service, has a very limited capacity and will only accept referrals that fulfil strict criteria as outlined below.

Diagnostic Evaluation

All referrals should be addressed to Dr Lesley Ades or Dr Alan Ma, Clinical Genetics Department, Children’s Hospital Westmead. Please note, appointments only address diagnostic issues. Rehabilitation information is below.

Children need a referral from a paediatrician.

Children must have had an echocardiogram and an eye examination to look for features of a connective tissue dysplasia syndrome.

Referrals need to include:
  • a detailed description of the child'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

Children living outside Western Sydney and Western NSW Health Districts

Children should be referred to their local clinical genetics service in the first instance. 

Referrals to the Connective Tissue Dysplasia Clinic for tertiary diagnostic evaluation can be made by a clinical geneticist after an echocardiogram and an eye examination to search for features of a connective tissue dysplasia syndrome have been performed.

Management and Rehabilitation Needs

Referrals for advice on management and rehabilitation needs should be addressed to Dr Louise Tofts, Rehabilitation Department, Children’s Hospital Westmead. The Clinical Genetics Department does not provide ongoing management for children with Connective Tissue Dysplasias.

Urgent referrals

Phone the Hospital switchboard on 9845 0000 and page the on-call Fellow in Genetics or the Clinical Geneticist

Contact details

For questions regarding appointments with Drs Zankl, Munns, Ma, Ades:

Tina Willmore, Clinic Coordinator, Clinical Genetics 9845 3205

For questions regarding appointments with Dr Tofts:

Admin Officer, Rehabilitation Department, 9845 2131  or 9845 2132

 

Neurogenetics Clinic

Location

Children's Assessment Centre (CAC) Level 3

Appointments

Preferred - Email SCHN-CHW-Neurogenetics@health.nsw.gov.au or Ph 9845 1325

Consultants

A/Prof K Jones (Geneticist)
A/Prof M Wilson (Geneticist)
Dr S Sandaradura (Geneticist)
Dr R Webster (Neurologist)
Dr H Young (Neurologist)
Dr S Ardern-Holmes (Neurologist)
Dr M Menezes (Neurologist)

Clinic days

Wednesdays, 2 pm

Method of referring

Email Daralyn Hodgson, Manager Neurogenetics Clinical Services on SCHN-CHW-Neurogenetics@health.nsw.gov.au  or Fax 9845 3905 the written referral addressed to the attending specialist.

Initial referrals must be from a registered medical practitioner (specialist or consultant) / subsequent referrals must be from a registered medical practitioner (GP, specialist or consultant) and can be directed to any Clinical Geneticist/ Paediatric Neurologist listed above. Requirements will be advised at booking by genetic staff. 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.

Clinic function

Diagnosis, assessment and genetic counselling of children with neurogenetic disorders including neurofibromatosis, tuberous sclerosis, neuromuscular disorders and hereditary ataxias

Urgent referrals

Contact the Hospital switchboard, 9845 0000 and page on-call Neurogenetics Fellow

Neuromuscular Management (with Rehabilitation Department)

Location

Occupational Therapy Department, Level 2

Appointments

Preferred Email:  SCHN-CHW-Neurogenetics@health.nsw.gov.au  or Ph 9845 1325.

Consultants *

Dr A Morrow (Rehabilitation Specialist)
Helena Young (Occupational Therapist)
Meghan Harman (Physiotherapist)
Mariam Farid (Neuromuscular Social Worker)

Clinic days

Wednesdays, 2 pm, Monthly

Method of referring

Email Daralyn Hodgson, Manager Neurogenetics Clinical Services on SCHN-CHW-Neurogenetics@health.nsw.gov.au  or Fax 9845 3905 the written referral to the attending specialist.

Clinic function

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.

Urgent referrals

Email Daralyn Hodgson, Manager Neurogenetics Clinical Services, on SCHN-CHW-Neurogenetics@health.nsw.gov.au  or fax the written referral to Fax 9845 3905, or phone the Neurogenetics Fellow on call via the Hospital switchboard on 9845 0000.

Genetic Limb Clinic (with Rehabilitation Department)

Location

Children's Assessment Centre (CAC) Level 3

Appointments

9845 3273 (Genetics) or 9845 2230 (Rehabilitation)

Consultants *

A/Prof M Wilson (Genetics)
Dr L Tofts
Dr A Epps (Rehabilitation)

Clinic days

Monday 9am monthly (Genetics), fortnightly 10am (Rehab)

Method of referring

Most patients at the Limb Clinic are seen only by Paediatric Rehabilitation team. These appointments are booked through Paediatric Rehabilitation Department, and do not involve the Genetics staff. A geneticist attends the Limb Clinic monthly to see specifically referred patients. It is recommended that all newly referred patients with a congenital limb anomaly are seen by the Geneticist as well as the Rehabilitation team.

Referrals for Genetics can be made either by phoning the Clinical Genetics Secretary on (9845 3273), followed by written referral from referring doctor, or directly by written referral from doctor. Referrals must be from a registered medical practitioner (GP, specialist or consultant) and should be directed to Dr Wilson (Genetics). Separate referrals will be required if child is booked to see both Genetics and Rehabilitation. Requirements will be advised at booking by genetic staff. All appointment requests are triaged by clinical staff and appointments may be allocated to 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.

Clinic function

Diagnosis, genetic counselling and rehabilitation management of children with congenital or acquired limb deficiencies. Genetic investigation and counselling is offered where appropriate. Referrals for counselling during pregnancy, when limb deficiency has been identified on prenatal ultrasound, are treated as urgent (see below).

Urgent referrals

Contact the Hospital switchboard, 9845 0000 and page on-call Fellow in Genetics or Clinical Geneticist

Genetic Dermatology Clinic (with Dermatology and Dental Departments)

Location

Children's Assessment Centre (CAC) Level 3

Appointments

9845 3205

Consultants *

Dr L Adès
Dr Peter Hogan (Dermatology)
A/Prof K Jones
Dr A Ma
Dr S Sandaradura
A/Prof M Wilson
Dr A Ming (Dermatology)

Clinic days

Thursday, 9am, every three months

Method of referring

Referrals can be made either by telephone contact with Clinical Genetics secretary 9845 3205, followed by written referral from referring doctor, or directly by written referral from doctor. Referrals must be from a registered medical practitioner (GP, specialist or consultant) and directed to a clinical geneticist by name. All appointment requests are triaged by clinical staff and allocated to either Genetic Dermatology or another Genetics Clinic if more appropriate. 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.

Clinic function

Diagnosis, assessment and genetic counselling of children with genetic disorders involving the skin and/or teeth/nails/hair, including the ichthyoses, ectodermal dysplasias and DNA repair disorders. A dermatologist is in attendance and a paediatric dentist may also be present, depending on availability.

Urgent referrals

Contact the Hospital switchboard, 9845 0000 and page on-call Fellow in Genetics or Clinical Geneticist

Genetic Eye Clinic (with Ophthalmology Department)

Location

Eye Clinic Level 3

Appointments

Ph 9845 3205

Consultants *

Prof R Jamieson (Genetics)
Dr M Flaherty (Ophthalmology)

Clinic days

Monday, 1.30 pm, Monthly

Method of referring

Referrals can be made either by phoning the Clinical Genetics secretary on 9845 3205, followed by written referral from referring doctor, or directly by written referral from doctor. Referrals must be from a registered medical practitioner (GP, specialist or consultant) and directed to clinical geneticist by name. 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.

Clinic function

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, eg retinoblastoma, retinal dystrophies, albinism

Urgent referrals

Contact the Hospital switchboard, 9845 0000 and page on-call Fellow in Genetics or Clinical Geneticist

Craniofacial Genetic Counselling (including Craniofacial Clinic)

Location

Level 2 Outpatient Clinics

Appointments

9845 0918

Consultants *

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

Clinic days

Friday 9am - 2 pm, every two weeks, a Clinical Geneticist attends every 4 weeks.

Method of referring

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).

Clinic function

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.

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.

 Adult Genetics Clinic (Westmead Hospital)

Location

University Clinic B, Westmead Hospital

Appointments

Ph 8890 9780

Consultants *

Prof R Jamieson
A/Prof K Jones
A/Prof M Wilson
Prof D Sillence

Clinic days

Mondays, 2pm - 5pm

Method of referring

Referrals can be made either by phoning the Clinical Genetics secretary 8890 9780, followed by written referral from referring doctor, or directly by written referral from doctor. Referrals must be from a registered medical practitioner (GP, specialist or consultant) and directed to a clinical geneticist by name. 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.

Clinic function

Diagnosis, assessment and genetic counselling of adults with, or with a family history of, genetic disorders, syndromes or chromosomal abnormalities. This includes expert specialised genetic services for adults with genetic connective tissue dysplasias or lysosomal storage disorders, and for predictive testing for adult-onset genetic conditions (eg Huntington's disease).

Genetic counselling for familial cancer is provided by the Familial Cancer Service at Westmead Hospital, phone 8890 6947.

Urgent referrals

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

Prenatal Genetics Clinic (Westmead Hospital)

Location

Women's Health Clinics, Westmead Hospital

Appointments

Ph  9845 3273

Consultants *

Dr L Adès
A/Prof M Wilson

Clinic days

Tuesdays, 9am

Method of referring

Referrals to this clinic are often urgent. Delayed referrals can limit testing options. If in any doubt, contact us.

Referrals can be made either by phoning the Clinical Genetics secretary ( 9845 3273), followed by written referral from referring doctor, or directly by written referral from doctor. Referrals must be from a registered medical practitioner (GP, specialist or consultant) and directed to a clinical geneticist by name. 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.

Clinic function

This clinic is mainly for pregnant women (and their partners) and provides assessment, genetic counselling, information regarding prenatal diagnosis options and coordination of prenatal testing where there is a possible or known increased risk of fetal abnormality. This includes pregnancies in which the fetus has been found to have a malformation or chromosomal abnormality, women/couples with a previous child with a prenatally detectable condition, couples who are carriers for a genetic disorder, pregnancies at increased risk due to family history or consanguinity or concerns regarding the effects of exposure to potential teratogens. Note: Counselling regarding advanced maternal age only should be referred to Antenatal Clinics.

Urgent referrals

Phone the CHW Hospital switchboard on 9845 0000 and page on-call Genetic Counsellor, Fellow in Genetics or Clinical Geneticist

Outreach Clinics

The Children's Hospital at Westmead now provides regular outreach clinics to adults and children in all of the Greater Western local health district, with clinics in Orange (since 1995) and Dubbo (since 2011). The clinics are coordinated by the local genetic counsellor or associate genetic counsellor.

  • Dubbo Community Health Centre on 6885 8900
  • Orange Clinic, phone Gillian Shannon, Genetic Counsellor at Bathurst Community Health Centre on 6330 5677

Clinic Appointment booking/enquiry numbers:

  • The Children's Hospital at Westmead clinics on 9845 3273
  • Prenatal Clinic (held at Westmead Hospital) on 9845 3273
  • Adult Genetics (Westmead Hospital) on 8890 9780
  • Dubbo Genetics Outreach on 6885 8900
  • Neurogenetics clinic on 9845 1325
  • Orange Genetics Outreach on 6330 5677
  • Familial Cancer Service Westmead Hospital on 8890 6947

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-speciality genetics clinics.

  • Nepean Hospital: ph 4734 3362
  • Liverpool Hospital: ph 8738 4665
  • Royal North Shore Hospital: ph 9463 1727
  • Royal Prince Alfred Hospital: ph 9515 5080
  • Sydney Children's Hospital: ph 9382 5608
  • St George Hospital: ph 9113 3635