Adult Genetics
We provide consultation, diagnosis and testing for genetic disorders.
Reception phone
7074 2697
Email
adultgenetics@sa.gov.au
What we do
The Adult Genetics Unit undertakes genetic assessment, counselling and testing of adults and their families, with known or suspected genetic/familial disorders.
A genetic test usually involves collecting a sample of blood, genetic material (DNA) is extracted and tested for a variety of genetic errors.
If a genetic error is found another appointment may be arranged with a clinical geneticist and/or a genetic counsellor, to talk about what the result means for you and other members of your family.
Our services include:
- familial cancer genetic diagnosis, counselling, and predictive testing
- Huntington disease predictive testing
- clinical and genetic diagnosis of syndromic connective tissue disorders and aortopathies (such as Marfan, Loeys-Dietz and vascular Ehlers-Danlos syndrome)
- genetic assessment of familial endocrine disorders
- genetic assessment of familial renal disorders
- genetic assessment of familial cardiac arrhythmias and cardiomyopathies
- genetic assessment of inherited neurological disorders
- genetic assessment of other suspected genetic disorders
- advice about the genetic investigation of complex cases
- advice about the interpretation and communication of complex genetic test results
- organisation of extended family cascade testing and predictive genetic testing.
The service does not provide ongoing patient management or care.
Where to find us
Appointments with our team are held at a variety of locations across metropolitan Adelaide hospitals.
- Level 1/21 North Terrace, Adelaide (opposite the RAH)
- The Queen Elizabeth Hospital (TQEH)
- Flinders Medical Centre
- Lyell McEwen Hospital
- Women's and Children's Hospital.
Always check your appointment letter or confirmation text message for the location of your appointment.
Telehealth appointments, via phone or video, are available to patients. people in rural or remote areas.
Who we are
The AGU team consists of clinical geneticists (genetic doctors), genetic counsellors plus further clinical and support staff.
We work closely with the Paediatric and Reproductive Genetics Unit and Metabolic Unit at the Women's and Children's Hospital.
Consultants
- Dr Nicola Poplawski – Head of Unit
- Dr Krzysztof Bernatowicz
- Dr Eryn Dow
- Dr Sunita De Sousa
- Dr Kathryn Waddell-Smith
You need a referral from a GP or medical practitioner to access this service.
Each referral sent to us is assessed to determine if a genetics appointment is needed.
To help do this, we may contact you to gather more information about you and your family.
If an appointment is needed, you are added to the waiting list and contacted within clinically recommended times.
Telehealth appointments, on the phone or video, are available for all appointments regardless of where you live. Information can be sent about how to use the service when appointments are made.
If an appointment is not needed, we will inform you and your referring GP or specialist.
Do you need an interpreter or cultural support?
If you need an interpreter or cultural support, contact us when you receive your appointment time.
Patient appointment information
Before your appointment, we may need more information about your medical and family history.
If so, you will be asked to complete the following forms before attending:
- a personal health information form
- a family history form
- a consent form to allow us to access your medical records.
Forms are sent in one of three ways:
- by text message or email with a link to access and fill out the forms online. Messages and emails are sent by Personify Care, an online platform used to send and receive confidential patient information
- by post, with hard copy paper forms sent to you along with a pre-paid return envelope.
Return the forms as soon as possible. Once we have received the completed forms, we will assess if an appointment is needed.
- You can bring other members of your family or a friend to the appointment
- Most appointments are with a genetic counsellor, or a clinical geneticist (a genetics doctor)
- Some appointments are in a specialty clinic with a doctor who has genetic expertise in their specialty (e.g. cardiologist, endocrinologist)
- You are encouraged to ask questions and to make your own decisions. You are supported so you can make decisions that are right for you and your family.
What happens at the appointment depends on the reason you are referred to the AGU.
Appointments may include:
- discussing your family history
- discussing the problem or condition that has prompted the referral
- a medical examination
- assessing if a genetic test is available:
- explaining the reasons for a genetic test and the possible test outcomes
- exploring the possible medical, social and emotional consequences of a genetic test
- discussing the insurance and employment issues raised by genetic testing
- if appropriate, and if you agree, arranging for genetic testing to be done.
Some patients will be offered a genetic test. Before having then test, you will need to sign a consent form.
A genetic test usually involves having a sample of blood taken, DNA is then extracted so the genetic test can be done.
You will then be told the results.
If a genetic error is identified, we will tell you the results. Another appointment may be arranged with a clinical geneticist and/or a genetic counsellor to talk about what the result means for you and other members of your family. And whether other family members would benefit from genetic testing as well.
After your appointment, you and your doctor are sent a letter going over what was discussed in the appointment. If a genetic test was done you will be contacted when the result is available. This can take several months.
A plan may be made for further information gathering, further tests, or another appointment with the unit.
Your referring doctor remains responsible for your ongoing health care. The Adult Genetics Unit does not manage ongoing care.
Genetic testing for familial cancer
We accept referrals from GPs, private specialists and other health professionals.
Complete the relevant referral form, then fax or email directly to the AGU.
Include the name of your preferred doctor on the referral.
Referrals are triaged according to clinical urgency.
Urgent referrals
For urgent referrals phone the AGU and speak to the registrar or consultant on call.
Germline genetic testing packs
Following an initiative of the Statewide Cancer Clinical Network under the Commission on Excellence and Innovation in Health, a new framework has been developed to facilitate standardised and streamlined access to germline genetic testing for adult patients with cancer, being treated in public health services across South Australia.
This framework includes pathways for germline genetic testing to be organised by non-genetics healthcare professions involved in the care of adult patients with cancer, for example oncologists and surgeons.
This testing pathway is only available for specific cancer predisposition genes, including:
- BRCA1, BRCA2 and Lynch syndrome associated genes
- in patients with cancer who meet clearly outlined criteria.
It is strongly recommended that any specialist ordering mainstream genetic testing undertake formal education and training focused on understanding the types, role, and potential limitations and ramifications of genetic testing for both the patient and their families.
The Adult Genetics Units still accepts referrals for germline genetic testing in patients with cancer, regardless of the cancer type(s) and/or gene(s) to be tested.
Each pack contains all the required information and documentation to organise appropriate genetic testing, with an additional patient information and resources pack.
If you have any questions or concerns relating to mainstream genetic testing, please feel free to contact the Adult Genetics Unit for assistance.