Patient information

Genetic medicine uses information from our DNADNA is short for deoxyribonucleic acid. DNA is in every cell of every living thing and is the material that carries all the information about how a living thing will look and function. 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.

On this page

What we do

We diagnose, and provide ongoing medical care and genetic counselling for adults with genetic metabolic disorders and general genetic 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
  • Niemann Pick type B
  • Pompe Disease
  • Fabry Disease
  • renal genetic disorders
  • cardiac genetic disorders

Who we care for

Our multidisciplinary team a multidisciplinary team is made up of staff from different medical backgrounds/specialisations 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
  • 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.


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.

Outpatient Clinics

We also hold outpatient clinics in the University Clinics which are located on Level 2 of the hospital.

What to expect at your appointment

General genetics appointments

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.

Genetic metabolic disorders appointments

The goal of these appointments is to confirm your diagnosis so we can provide the best possible medical and dietary management. Various biochemical and genetic tests (including blood tests) are usually performed.

You might also see our metabolic dietician. They will take a diet history and may suggest that you make changes to your diet. The dietician can also provide specialised advice on recipes and calorie intake.

What to bring to your appointments

Please bring the following:

  • your referral letter
  • 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)

Our outpatient clinics

Clinic specialty Sessions
General genetics Monday afternoons
Cardiac genetics Monthly Tuesday mornings
Aortopathy Monthly Thursdays
Eye genetics Monthly Tuesday mornings
Genetic metabolic disorders:

Lysomal clinic

Metabolic disorders clinic

Every 2nd & 4th Monday morning of each month

Every Thursday morning

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