A Dedicated Genetic Counselling Service

Genetic Counselling Australia offers genetic counselling services nation-wide. Supervised by a leading clinical geneticist and staffed by passionate and empathetic genetic counsellors, Genetic Counselling Australia aims to inform, educate and empower patients to assist them with understanding and making informed decisions regarding their genetic health.

What services do Genetic Counselling Australia offer?

Genetic Counselling Australia offers genetic counselling services Australia-wide, which:

  • Provide you with the opportunity to learn and understand genetic testing, conditions and the relevance this may have for you and your family
  • Offer you the opportunity to ask questions and have them answered in an empathic, supportive and empowering environment
  • Work with you, at your pace to provide you with the genetic information you need
  • Provide you with the opportunity to speak about your personal story and experience

Genetic Counselling Australia offers genetic counselling services to patients who have been referred by medical specialists, doctors and leading pathology services in Australia. In addition, Genetic Counselling Australia can provide genetic counselling in the following areas:

Non-invasive prenatal testing (NIPT)



Breast and Ovarian Cancer

Carrier Screening

Non-invasive prenatal testing (NIPT)

Non-invasive prenatal testing (NIPT) is a revolutionary advance in prenatal screening which can detect genetic material (DNA) from the placenta in a blood test from the mother. In the past, the ability to test DNA from the fetus required much more invasive methods such as amniocentesis or placental biopsies, which are not without risks to mothers and their babies.

NIPT can be done from 10 weeks of pregnancy and tests for conditions such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), Patau syndrome (Trisomy 13) and sex chromosome abnormalities such as Turner syndrome (Monosomy X) and Klinefelter syndrome (XXY).

Genetic Counselling Australia can provide information on all aspects of Non-invasive prenatal testing (NIPT), including pre-and post-test genetic counselling.


Pharmacogenomics (often used interchangeably with the term pharmacogenetics, though a distinction can be made) is the science that examines the link between our genetic makeup and how we respond to medications.

Pharmacogenomics improves prescribing for the individual by helping to predict how they will respond to a particular medication and dose. Ultimately, improved prescribing decision-making enhances therapeutic response, safety and health outcomes. In this way, pharmacogenomics forms an important part of the emerging paradigm of ‘personalised medicine’.

Genetic Counselling Australia can provide useful pre-test information on the myDNA pharmacogenomics test and help an individual understand how this test could be of benefit.


We are at the forefront of an exciting time in nutrition in which we are discovering more about the underlying differences between how people process nutrients. Nutrigenomics is the study that refers to the effects of nutrients on an individual’s genetic makeup. Nutrigenomic testing allows healthcare professionals to move from a ‘one size fits all’ diet model towards a more personalised approach.

Genetic Counselling Australia can provide useful pre-and post-test information on the myDNA nutrigenomics test and help an individual understand how this test could be of benefit.

Fabry Disease

Fabry disease is a genetic condition that makes you unable to break down a substance called globotriaosylceramide (GL-3) in cells throughout your body. In most people, GL-3 is broken down and recycled for use elsewhere or eliminated from the body. However, patients with Fabry disease do not produce enough of the enzyme alpha-galactosidase A that helps the break-down process, so the substance (GL-3) gradually builds up in the cells. This gradual build-up causes the often painful symptoms of Fabry disease, and can lead to severe organ damage over time. Fortunately, treatment for Fabry disease is available.

The Fabry Genetic Support Service, run through Genetic Counselling Australia’s partner company, myDNA. The Fabry Genetic Support Service is a dedicated genetic counselling service for patients with Fabry disease and their relatives.

Breast and Ovarian Cancer

Genetic Counselling Australia is pleased to now offer pre-test genetic counselling for Breast and Ovarian cancer genetic testing. This service is aimed specifically at individuals who do not have a family history of breast and ovarian cancer.

Whilst all cancer has a genetic cause, most cancers are not inherited (passed down in the family). Recent advancements in genetic testing can give insight into whether an individual has a genetic variation that links to a higher chance of developing breast and/or ovarian cancers and whether there is any risk to other family members. Breast and ovarian cancers can be caused by several different genetic variations.

Genetic Counselling Australia are proud to partner with Genomic Diagnostics for their breast and ovarian cancer genetic testing. Genomic Diagnostics is the nationally co-ordinated genetic testing service for Specialist Diagnostic Services, also known as SDS Pathology. They are one of Australia’s longest running DNA testing organisations, responsible for testing more people every year than anyone else in the country.

Patients can be referred to this service by a General Practitioner (GP) or medical specialist and do not need to have any relevant family history. During these consultations, Genetic Counselling Australia will explain all facets of testing and obtain full informed consent from the patient, which is a requirement before testing can be initiated.

Carrier Screening

Family planning is an important time.

Genetic carrier screening is a test done to see whether an individual and their partner carry a genetic variation that could cause a serious inherited genetic condition in their offspring. These tests screen for conditions such as Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X syndrome. If you and your partner are found to both be carriers of the same condition, there will be a 1 in 4 (25%) chance of having a child with the condition.

Genetic Counselling Australia can provide you with pre-test information that can help you make the most informed decisions for you and your family during this important time.

Meet the Team

A/Prof Leslie Sheffield

Clinical Geneticist

MB BS, MSc, FRACP, HGSA Cert Clin Genet

Since the 1980s Professor Sheffield has been involved in the design and development of genetic tests. As a Clinical Geneticist based at The Women’s and Royal Children’s Hospitals, he authored more than 100 scientific publications. He has more than twenty years’ experience in writing reports for a molecular genetic diagnostic laboratory and a biochemical laboratory screening for Down syndrome in Pregnancy. In 2007 Les founded myDNA to make genetic interpretation more widely available. He continues to drive the development of new services as Medical Director. He has been on the Editorial Board of Nature’s Journal of Pharmacogenomics since 2006 and is currently the genetic editor of the Internal Medical Journal.

Kathryn Visser

Genetic Counsellor

BA, BSc.(Hons), MGenCouns

Kathryn is an Associate Genetic Counsellor with experience counselling patients in the areas of prenatal, carrier screening, breast cancer and rare disease. Kathryn firmly believes in the importance of people being able to make informed decisions relating to their health, family and future, through the provision of information and support. Kathryn possesses over a decade of medical research experience, having previously worked as a scientist in cancer research, specialising in breast cancer and metastasis research. Kathryn is a member of the Human Genetics Society of Australasia and the Australasian Society of Genetic Counsellors.

Edith Sheffield

Genetic Counsellor

BA, Dip Ed, Grad Dip Gen Couns

Edith is a trained educator and genetic counsellor, who has experience in prenatal and pre-conception genetic counselling. Edith has directed the education program at GenesFX Health (now myDNA Life) and provides genetic counselling input to the drug specific reports and to patients when required, as well as providing support for Doctors.

Frequently Asked Questions

Who are Genetic Counselling Australia?

Genetic Counselling Australia is a dedicated, nation-wide private genetic counselling service. Staffed by experienced genetic counsellors, the service aims to provide patients with the appropriate genetic education and information that they need to assist them with understanding genetic testing and making informed decisions about what will work best for them. They are also able to assist other healthcare professionals in understanding their patients genetic test results, implications and potential next steps. All Genetic Counselling Australia genetic counsellors adhere to the Human Genetics Society of Australasia (HGSA) code of ethics.

Genetic Counselling Australia leads by example and pride themselves on the values of integrity, empathy, empowerment, autonomy and respect.

What are genetic conditions?

Genes are the instructions for the growth and development of our bodies. A genetic condition is caused by an alteration (or change) to a gene or set of genes. Genetic conditions are the cause of many health issues seen at birth and throughout life. They can occur due to inheriting an altered gene from your parents or they can occur randomly before you are born. The severity of genetic conditions varies vastly, however many can cause significant health, developmental and intellectual issues.

What is genetic counselling?

Genetic counselling helps people understand their genetics through communication, providing support, information and resources. It facilitates people making informed decisions and adapting to the different implications genetic results can have for an individual on their medical, familial reproductive and psychological situations.

The genetic counselling provided by Genetic Counselling Australia is provided in a supportive and empowering environment.

Is Genetic Counselling Australia supervised by a geneticist?

In accordance with the Human Genetics Society of Australasia (HGSA) guidelines, Genetic Counselling Australia is supervised by Associate Professor Les Sheffield, a clinical geneticist who has over 50 years’ experience in clinical genetics.

You can read more about A/Prof Sheffield in the “Meet the Team” section.

Can I purchase a test from Genetic Counselling Australia?

Genetic Counselling Australia is a dedicated genetic counselling service. Our focus is on providing patients with the appropriate genetic education and information that they need to assist them with understanding genetic testing and making informed decisions about what will work best for them.

Whilst we can direct you to the best area to organise testing, currently you cannot purchase a test from Genetic Counselling Australia.

Will Genetic Counselling Australia Liaise with my doctor?

Yes, following all Genetic Counselling Australia consultations, a letter of correspondence will be sent to your referring healthcare practitioner outlining the main points of the consultation. Please make sure you make your genetic counsellor aware of your referring healthcare practitioner’s details and provide your referral at the time of booking your appointment.

What about confidentiality?

All personal information captured by Genetic Counselling Australia is kept confidential. Any associated paperwork is stored in a secure environment and information will not be disclosed without your consent.

How can I arrange a genetic counselling session with Genetic Counselling Australia?

In order to arrange a genetic counselling session with Genetic Counselling Australia please email us at info@geneticcounsellingaustralia.com.au, or phone us on 1300 100 422.

All bookings are made through an online booking system, which will send you an appointment confirmation and reminder.

Please note: payment is required at the time of appointment booking.

Is there any written information that I can access following my genetic counselling session?

Yes, following your Genetic Counselling Australia consultation your genetic counsellor will email or send you a summary of the information discussed which often includes a fact sheet.

Contact Us

If you would like to learn more about Genetic Counselling Australia, please contact us at info@geneticcounsellingaustralia.com.au, phone us on 1300 100 422,  or fill in the form and we will get back to you shortly.

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