Clinical Genetics Service
The Clinical Genetics Service provides services in genetic assessment, counselling and genomic testing for prenatal, neonatal, paediatric and adult patients. Common reasons for referral to a genetics clinic include a personal or family history of a known or possibly inherited disorder.
Who we treat
The Clinical Genetics Service provides genetic assessment, counselling and genomic testing for children, adults, and couples during pregnancy if there is a suspected diagnosis or a risk for inheriting an inherited disorder.
We consult on a wide range of genetic conditions including cystic fibrosis, thalassaemia, Huntington's disease and chromosome problems. One of our common referral groups are children with learning difficulties or developmental delay where a genetic basis is suspected or confirmed.
Genetic health professionals include clinical geneticists, who are doctors with a specialisation in genetic diagnosis and management, and genetic counsellors who provide information and support to individuals, couples and families regarding health concerns which are inherited or suspected as having a genetic cause. Genetic counselling is provided to promote informed choices and adaptation to a diagnosis or a risk of inheriting a genetic disorder. Our team also provides access to genetic testing, resources and research.
Dr Lisa Worgan
Dr Lisa Worgan has more than 20 years of experience in general clinical genetics with a particular interest in dysmorphology, neurogenetics and paediatric genetics.
Dr Felicity Collins
Dr Felicity Collins has more than 25 years of experience in general clinical genetics with a particular interest in prenatal and reproductive genetics and connective tissue disorders, such as Marfan syndrome.
Dr Amali Mallawaarachchi
Dr Amali Mallawaarachchi is a Clinical Geneticist and Nephrologist (Kidney Specialist) with experience in adult and paediatric general genetics and prenatal genetics. She has a special interest in renal genetics and adult general genetics.
|Dr Alison McLean
|Dr Alison McLean is a Clinical Geneticist trained in genetic disorders. Alison has an interest in the ethical application of innovative technologies.
Sydney Local Health District has experienced genetic counsellors working across general, prenatal, cardiac, cancer and many other medical specialities. These are post graduate trained allied health professionals who identify and meet clinical, informational, and psychosocial needs to promote informed decision-making and support people and families who are impacted by, or at increased risk of having a health condition with a genetic basis.
Kathleen Le Marquand (FHGSA)
Kathleen is a certified senior genetic counsellor with over 16 years of experience working in general and prenatal genetics. Kathleen has international experience in clinical management and an interest in neuromuscular genetics, congenital heart disease and respiratory disease.
Shona Reid (MHGSA)
Shona is a genetic counsellor with over 5 years of experience working in general and prenatal genetics. Shona has a special interest in genetic eye disease and connective tissue disorders.
Laura Molloy (FHGSA)
Laura is a certified genetic counsellor with over 12 years of experience working in general and prenatal genetics. Laura has a special interest in neurogenetics and maturity onset diabetes of the young.
General Genetic Clinic
Cancer Genetic Clinic
Phone: 02 9515 8780
Fax: 02 9515 7713
Vascular Health (Familial Hypercholesterolaemia) Clinic
Familial Hypercholesterolaemia (FH) is an inherited condition that causes high cholesterol levels in the blood from a young age and increases the risk of heart disease in young people. Early detection and treatment of FH can greatly reduce a person’s risk of developing heart disease or stroke.
|Prenatal Genetics Clinic
|Every pregnant woman in New South Wales is offered tests during her pregnancy to monitor the health of the baby and to screen for signs of specific chromosome conditions. If a prenatal screen result indicates an increased risk for a chromosome condition, a genetic counsellor can help support couples in making informed decisions about the option of additional tests available during pregnancy. For more information about prenatal screening and diagnostic tests, see the NSW Health’s Centre for Genetics Education Prenatal Testing Booklet.
There are eight different types of porphyria which are all caused by a build up of porphyrins in the cells of the body. Porphyrins are substances that are required for the production of red blood cells. For more information on porphyria, please visit the Australian Porphyria Association.
Phone: 02 9515 5186
Make a referral
Health professionals can refer patients to the below clinics:
General Genetic Clinic
Referrals will be reviewed and triaged. Patients are contacted directly by a genetic counsellor to arrange an appointment.
If a patient does not live within Sydney Local Health District, we may recommend that they be seen at their local clinical genetics service. For more information, see the map of local health districts.
|Cancer Genetic Clinic
Medical Oncologist (Cancer Specialist):
|Vascular Health (Familial Hypercholesterolaemia) Clinic
Physician and Chemical Pathologist:
Physician and Chemical Pathologist:
Other Specialty Multidisciplinary Clinics
The Clinical Genetics Service also manages the following multidisciplinary clinics:
|Make a referral
All referrals to the Clinical Genetics Service are reviewed and triaged. Patients are contacted directly by a genetic counsellor to arrange an appointment.
What happens at a clinical genetics appointment?
A clinical genetics appointment may take up to one hour. During this time, a clinical geneticist or genetic counsellor will collect your personal medical history as well as a detailed family medical history. A physical examination may be required, and clinical photographs may be taken.
Information, including photographs, collected during your appointment is recorded in your genetic file, which is separate to the main hospital medical record. Information from your genetic file may not be shared without your consent. Find out more about the privacy of patient information here.
What to bring to your (or your child's) appointment?
- Referral letter from your doctor
- Medicare card
- Any relevant medical test results or letters from other doctors and specialists
- Family photographs, for example, baby and childhood photos (of parents too if your child has been referred)
Genetic testing can be a complex process and may not be helpful in every circumstance. At your appointment we will discuss the availability of genetic testing and the potential advantages, disadvantages and limitations of testing. If testing is undertaken, this usually requires a blood test.
You may be provided with the option of a Telehealth consultation for your genetic clinic appointment. If you have agreed to a Telehealth consultation, a link will be emailed to you prior to the appointment. You may be provided with a My Virtual Care link, which is a NSW Telehealth service. A genetic counsellor will help you connect for the appointment.
Where to find us
The location of your appointment will be communicated to you via letter or email. Most appointments take place RPA Hospital Main Building (Building 75) on:
- Level 5 – Women’s and Babies Ambulatory Care Clinic rooms
- Level 5 – Fetal Medicine Unit
- Level 6 – Cardiovascular Ambulatory Care Clinic rooms
Please check in and present your Medicare card at the front desk on arrival.
Visit RPA Hospital Map, Transport and Parking for details.
Provides peer support and information for individuals and families affected by a rare genetic condition or rare disease.
Provides information about familial hypercholesterolaemia, an inherited condition that causes high cholesterol levels and increases risk for heart attack and stroke.
Provides fact sheets on genetics, inheritance and certain genetic conditions.
Provides information about how to order reproductive carrier screening and some provider options.