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.

We provide genetic counselling for

Non-invasive prenatal testing (NIPT)

Pharmacogenomics Testing (PGx)

Hereditary Breast and Ovarian Cancer

Genetic Carrier Screening

Non-invasive prenatal testing

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 NIPT, including pre-and post-test genetic counselling.


Pharmacogenomics (PGx) 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. There is also a service available for those individuals who have undergone PGx testing through myDNA and have received clinical results with implications for other family members.

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 coordinated 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 performed 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 (CF), Spinal Muscular Atrophy (SMA) and Fragile X syndrome (FXS) which have high carrier rates within Australia and are therefore seen more commonly that other inherited conditions. Expanded carrier screen tests are also available that look at many more conditions that occur less commonly. If you and your partner are found to both be carriers of the same condition, in most cases 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. We also offer information for people who have been found to be a carrier through genetic testing.

What services do we offer?

Genetic Counselling Australia offers genetic counselling services Australia-wide:


Providing you with the opportunity to learn and understand genetic testing, conditions and the relevance this may have for you and your family.


We offer you the opportunity to ask questions and have them answered in an empathic, supportive and empowering environment.


We work with you, at your pace to provide you with the genetic information you need.


Providing you with a space to share 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.
Alternatively, you can contact us directly to discuss the way forward.

Talk to a Genetic Counsellor Today!

Meet the Team

A/Prof Leslie Sheffield

Clinical Geneticist

MB BS, MSc, FRACP, HGSA Cert Clin Genet

Read More

Kathryn Visser

Genetic Counsellor

BA, BSc.(Hons), MGenCouns

Read More

Edith Sheffield

Genetic Counsellor

BA, Dip Ed, Grad Dip Gen Couns

Read More

Chaya Goldman

Associate Genetic Counsellor

BSc. MGenCouns

Read More


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, and founded sister company Genetic Counselling Australia in 2017 to increase accessibility to genetic counselling services, He continues to drive the development of new services as Medical Director. He was on the Editorial Board of Nature’s Journal of Pharmacogenomics from 2006-2021 and is currently the genetic editor of the Internal Medical Journal.


Kathryn is an Associate Genetic Counsellor with experience counselling patients in the areas of prenatal, carrier screening, breast cancer and rare disease. She firmly believes in the importance of people being given the opportunity to make informed decisions relating to their health, family and future, through the provision of information and support. Kathryn is involved in education programs to promote and raise awareness about the importance of genetic counselling.

She 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 is a trained educator and genetic counsellor, who has experience in prenatal and preconception 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.


Mrs. Chaya Goldman is a genetic counsellor with clinical experience focussing on reproductive genetic carrier screening and Non-Invasive Prenatal Testing (NIPT). Her dedication to patient-centred care and exceptional communication skills have made her a trusted resource for individuals and couples making important genetic health and reproductive decisions.

In addition to her clinical experience, Chaya serves as a research coordinator in the field of cerebral palsy, contributing to our understanding of the condition’s genetic factors. Her commitment to bridging clinical practice and scientific innovation allows her to contribute to the genomic workforce with authenticity and excellence.

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.

Fill out details here

Fields marked with * are required


Our Partners