Westmead Hospital Genetic Medicine
Genetic medicine uses information from our DNA to provide clinical care. Genetic testing can reveal the presence of genetic diseases which are sometimes passed through families from one generation to the next.
The Department of Genetic Medicine at Westmead Hospital provides information to individuals and families about genetic testing options and their implications. We also provide medical care and counselling for a wide range of rare genetic conditions.
What we do
We diagnose and provide ongoing medical care and genetic counselling for adults with general genetic and genetic metabolic problems.
By working closely with local and international laboratories we provide state-of-the-art genomic and biochemical testing.
We also provide personalised dietary and pharmaceutical management for patients with genetic metabolic disorders, including management during pregnancy.
Clinical trials
Our clinical trials give patients access to the latest treatments. We are currently running trials or research for the following conditions:
- Phenylketonuria
- Homocystinuria
- Neurogenetic disorders
- Niemann Pick C disease
Who we care for
Our multidisciplinary team provides individual and family support for adults with:
- Genetic metabolic disorders (inborn errors of metabolism)
- Chromosomal abnormalities
- Dysmorphic syndromes
- Intellectual disability
- Cardiac genetics
- Renal genetics
- Neurogenetics
- Eye Genetics
- Other rare inheritable disorders (except familial cancer)
How to access this service
You need a referral from your GP or medical practitioner to access this service.
Your doctor will need to fax or mail your referral letter to us.
Please bring a copy of the referral letter to your first appointment.
Cost for this service
This service is free if you have a Medicare card. Charges apply for patients who do not have a Medicare card.
Location
Our genetic medicine services are based at Westmead Hospital. You can find information about parking and public transport options on the Getting to Westmead Hospital webpage.
Department of Genetic Medicine
The Department of Genetic Medicine is located on level 3 (in Ward C3b), opposite the Intensive Care Unit.
What to expect at your appointment
The goal of these appointments is to answer any questions you or your doctor have. We aim to identify the cause of your symptoms or problem and advise on treatment. If we find a diagnosis, we can often give you information about the condition and any medical treatment options. We can also inform you of the likelihood of other family members being affected by the same condition.
Because diagnosing a genetic condition can be complicated, these appointments run for about one hour (or longer when testing is recommended).
You might have a telephone conversation with a genetic counsellor before your appointment to review your family and medical history. They will draw a family tree (called a pedigree) and may ask about developmental delays, birth defects or any family medical conditions.
During the appointment, your geneticist will ask more questions and perform a physical exam if needed.
At the visit our team may be able to tell you the reason for your symptoms, however tests (such as genetic testing) are usually needed to help make a diagnosis. We will provide detailed counselling around the issues associated with genetic testing, and will talk with you about testing options and any other follow-up recommendations.
Please note that results of genetic testing often take weeks or months before they are available.
The goal of these appointments is to answer any questions you or your doctor have. We aim to identify the cause of your symptoms or problem and advise on treatment. During the appointment, your geneticist will ask more questions and perform a physical exam if needed. You may have an appointment with the metabolic dietitian if required to discuss your diet and whether any changes are required.
Testing on blood or urine is often performed to monitor the status of your condition.
What to bring to your appointments
Please bring the following:
- Your referral lette
- Your Medicare card
- Copies (if any) of previous medical test results or reports
- Specific investigations to be completed before your appointment (if this has been requested by your genetic counsellor)
Outpatient Clinics
We also hold outpatient clinics in the University Clinics which are located on Level 2 of the hospital.
Useful links
Centre for Genetics Education - provide information about inheritance of genetic disease, pregnancy testing etc.
Genetic Alliance Australia - provides lists of rare diseases support groups available in Australia and run workshops for families living with rare diseases.