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Professionals

Genetics Clinics

Clinical Genetics

Clinical Genetics

General Paediatric Genetics Clinic

Location Children's Assessment Centre (CAC) Level 3
Appointments Initial visit - Ph (02) 9845 3273
Re-visit - Ph: (02) 9845 3205
Consultants * Dr L Adès
Dr F Collins
Dr K Jones
Dr J Smith
Dr M Wilson
Clinic days Thursday, 9.00am - 12pm, Weekly
Method of referring

Referrals can be made either by telephone contact with Clinical Genetics secretary (02 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 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 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 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, (02) 9845 0000 and page on-call Fellow in Genetics or Clinical Geneticist

Connective Tissue Dysplasia Clinic (CTD)

Location Children's Assessment Centre (CAC) Level 3
Appointments Ph (02) 9845 3273
Consultants * Prof D Sillence
Dr L Adès
Dr F Collins
Dr J Ault (Rehab)
Dr C Munns (Bone Metabolism)
Clinic days Tuesday, 9.30am - 12.30pm, Weekly
Method of referring

Referrals can be made either by telephone contact with Clinical Genetics secretary (02 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 consultant by name. This is a multidisciplinary clinic, including separate Genetics, Rehabilitation and Endocrinology/Bone Metabolism streams. Separate referrals will be required if child is booked to see more than one consultant. All appointment requests are triaged by clinical staff and allocated to either CTD Clinic or another Genetics Clinic if more appropriate. New patients suspected of having a disorder with low bone density should have bone densitometry booked on, or prior to, the day of the appointment, telephone (02) 9845 2898. Requirements will be advised by the booking staff or counsellor. Requests to see a specific consultant 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 rehabilitation management planning for patients with heritable disorders involving bones, joints and other connective tissues eg skeletal dysplasias, osteogenesis imperfecta, storage disorders, Ehlers-Danlos and Marfan syndromes.
Urgent referrals Contact the hospital switchboard, (02) 9845 0000 and page on-call Fellow in Genetics or Clinical Geneticist

Neurogenetics Clinic

Location Children's Assessment Centre (CAC) Level 3
Appointments Ph (02) 9845 3273
Consultants * Prof K North (Geneticist/Neurologist)
Dr K Jones (Geneticist)
Dr M Wilson (Geneticist)
Dr R Webster (Neurologist)
Dr J Antony (Neurologist)
Clinic days Wednesday, 2 pm, Weekly
Method of referring

Referrals can be made either by telephone contact with Clinical Genetics secretary (02 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 can be directed to any clinical geneticist 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 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 with neurogenetic disorders including neurofibromatosis, tuberous sclerosis, neuromuscular disorders and hereditary ataxias
Urgent referrals Contact the hospital switchboard, (02) 9845 0000 and page on-call Fellow in Genetics or Clinical Geneticist

Neuromuscular Management (with Rehabilitation Department)

Location Physiotherapy Department Level 2
Appointments Ph (02) 9845 1904
Consultants * Dr M-C Waugh (Rehabilitation)
Dr K Jones
Dr K North
Clinic days Wednesday, 2 pm, Monthly
Method of referring Telephone contact with Julie Collins (deputy manager Neurogenetics Unit) followed by written referral to doctor.
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.
Urgent referrals Telephone Julie Collins (02) 9845 1904 , or one of the above consultants, or a member of the Neuromuscular Management team via the hospital switchboard, (02) 9845 0000

Limb Clinic (with Rehabilitation Department)

Location Children's Assessment Centre (CAC) Level 3
Appointments (02) 9845 3273 (Genetics); (02) 9845 2230 (Rehabilitation)
Consultants * Dr M Wilson (Genetics)
Dr J Ault (Rehabilitation)
Dr A Epps (Rehabilitation)
Clinic days Monday 9.00 am monthly (Genetics), fortnightly 10.00 am (Rehab)
Method of referring

Most patients at 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 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 telephone contact with Clinical Genetics secretary (02 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, (02) 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 (02) 9845 3273
Consultants * Dr L Adès
Dr F Collins
Dr K Jones
Dr M Wilson
Dr Li Chuen Wong (Dermatology)
Dr Peter Hogan (Dermatology)
Dr A Cameron/Prof R Widmer (Dental)
Clinic days Thursday, 9.00 am, every 3 months
Method of referring

Referrals can be made either by telephone contact with Clinical Genetics secretary (02 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 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, (02) 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 (02) 9845 3273
Consultants * Dr R Jamieson (Genetics)
Dr M Flaherty (Ophthalmology)
Clinic days Monday, 1.30 pm, Monthly
Method of referring

Referrals can be made either by telephone contact with Clinical Genetics secretary (02 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 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, (02) 9845 0000 and page on-call Fellow in Genetics or Clinical Geneticist

Craniofacial Genetic Counselling (including Craniofacial Clinic)

Location Level 2 Outpatient Clinics
Appointments (02) 9845 0918
Consultants * Dr Damien Marucci (Plastic Surgery)
Dr Rob Gates (Plastic Surgery)
Dr L Adès
Dr M Wilson
Clinic days Friday 9-2 pm, 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): see separate referral instructions.
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, ENT, Orthodontics, Orthoptics, Speech Therapy, Psychiatry and Genetics. The clinic format does not permit formal genetic counselling, but patients requiring genetic counselling will be identified and options for followup suggested.
Urgent referrals For Craniofacial Surgeon, contact the hospital switchboard, (02) 9845 0000 and page on-call Registrar. For Genetics, page on-call Fellow in Genetics or Clinical Geneticist

Adult Genetics Clinic (Westmead Hospital)

Location University Clinic B, Westmead Hospital
Appointments Ph (02) 9845 3273
Consultants * Dr R Jamieson
Dr K Jones
Dr M Wilson
Prof D Sillence
Clinic days Monday, 2.00pm - 5:00pm, Weekly
Method of referring

Referrals can be made either by telephone contact with Clinical Genetics secretary (02 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

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 disease).

Genetic counselling for familial cancer is provided by the Familial Cancer Service at Westmead Hospital, Ph (02) 9845 6340.

Urgent referrals Contact the Westmead Hospital switchboard (02) 9845 5555 and page the Westmead Fellow in Genetics, OR contact the CHW hospital switchboard, (02) 9845 0000 and page on-call Fellow in Genetics or Clinical Geneticist

Prenatal Genetics Clinic (Westmead Hospital)

Location Women's Health Clinics, Westmead Hospital
Appointments Ph (02) 9845 3273
Consultants * Dr L Adès
Dr F Collins
Dr M Wilson
Clinic days Tuesday, 9.00 am, Weekly
Method of referring

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

Referrals can be made either by telephone contact with Clinical Genetics secretary (02 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 Contact the CHW hospital switchboard, (02) 9845 0000 and page on-call Genetic Counsellor, Fellow in Genetics or Clinical Geneticist

* Consultants are genetics consultants unless otherwise stated.

Click here Adobe PDF Document for the clinic referral form and email to Outpatients@chw.edu.au

This document was updated on Thursday, 4 September 2008.

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