Adult Genetics Unit outpatient service in CALHN
The Adult Genetics Unit (AGU) provides a state-wide specialist clinical genetics consultation service focused on genetic diagnosis and testing for rare disorders.
Our key role is the genetic assessment, counselling and testing of adults and their families with known or suspected genetic/familial disorders.
This is a public health service and is part of the Central Adelaide Local Health Network (CALHN).
Most appointments are held at The Queen Elizabeth Hospital (TQEH), but we also run clinics at other Adelaide hospitals. The AGU office is physically located at the Royal Adelaide Hospital (RAH).
Telehealth (phone or video) appointments are available to people in rural or remote areas.
The Queen Elizabeth Hospital (TQEH)
Outpatient Clinic Level 8A
28 Woodville Road
Woodville South, 5011
Download TQEH Map (PDF 245KB).
We run regular clinics at:
- Flinders Medical Centre (FMC)
- Lyell McEwen Hospital (LMH)
We run a limited number of Specialty Genetics Clinics at:
- Royal Adelaide Hospital (RAH)
- Women's and Children's Hospital (WCH)
- 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.
Mainstream germline genetic testing in cancer patients
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 the 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. See links to referral template below.
Download the newly developed tumour-specific mainstream germline genetic testing packs. Each pack contains all the required information and documentation to organise appropriate genetic testing, with an additional patient information and resources pack:
- Breast and ovarian cancer – mainstream genetic testing pack (PDF 887KB)
- Lynch syndrome cancers – mainstream genetic testing pack (PDF 948KB)
- Prostate cancer – mainstream genetic testing pack (PDF 838KB)
- Supplemental information and resources for patients (PDF 834KB)
If you have any questions or concerns relating to mainstream genetic testing, please feel free to contact the Adult Genetics Unit for assistance.
Out of scope services
The following referrals are not usually accepted, although exceptions can be made where clinically indicated.
General genetics (out of scope):
- individuals with a personal and/or family history of hypermobility type Ehlers Danlos syndrome (EDS type 3) / hypermobility / joint laxity
- Review the "indications for referral in EDS" tab on the Ehlers-Danlos syndromes (EDS) GP Toolkit for red flag signs that may trigger a referral to clinical genetics
- carrier testing for common genetic disorders including:
- cystic fibrosis — for more information see:
- familial hypercholesterolaemia — for more information see:
- hereditary haemochromatosis — for more information see:
- Hereditary haemochromatosis fact sheet (PDF 621KB) (genetics.org.au)
- alpha-1 antitrypsin deficiency — for more information see:
- Alpha-1-antitrypsin deficiency (pathologytestsexplained.org.au)
- Alpha-1 antitrypsin fact sheet for Primary Care (PDF 351KB) (nbt.nhs.uk)
- thalassaemia and other haemoglobinopathies — for more information see:
- Reproductive Carrier Screening — for more information see:
- Other options for reproductive genetic carrier screening (mackenziesmission.org.au)
- individuals who have had or are considering genetic testing of the MTHFR gene — for more information see:
- MTHFR gene testing fact sheet (PDF 236KB) (genetics.edu.au)
- individuals who have had or are considering 'direct to consumer' genetic testing
- individuals who have had or are requesting genetic testing relating to paternity.
Cancer genetics (out of scope):
- individuals with a family history of cancer but no personal history of cancer, where genetic testing for an inherited cancer predisposition has not already been done in the family
- in this situation, the appropriate family member to refer for diagnostic genetic testing is one who has had a cancer
- publicly funded genetic testing is not usually offered to members of the family who are not personally affected by cancer (with rare exceptions), and usually these individuals will not be offered an appointment
- online tools are available to estimate cancer risk and determine appropriate screening options:
- individuals who require assessment and management of a suspected new cancer: refer to appropriate clinical services (surgical or medical as clinically indicated)
- individuals at increased risk of cancer who require ongoing management of cancer risk such as surveillance or risk reducing surgery: refer to appropriate clinical services (surgical or medical as clinically indicated).
We accept referrals from GPs, private specialists and other health professionals. Referrals are triaged according to clinical urgency.
- complete the relevant referral form:
- fax or email the referral to:
- fax: (08) 8429 6112
- email: firstname.lastname@example.org
Please include the name of your preferred doctor on the referral.
For cancer genetic assessment and consideration of genetic testing, see Cancer genetics referral guidelines on the eviQ website.
Call (08) 7074 2697.
Booking an appointment
Each referral sent to us is assessed to determine if a genetics appointment will be needed.
To help us do this, we may contact the person to gather more information about them and their family.
If an appointment is needed, the person is added to our waiting list. They will be contacted within clinically recommended times.
When the person reaches the top of the waiting list, they will either:
- receive a letter with their appointment time and location, or
- be contacted to arrange a suitable time.
People in rural or remote areas with a telehealth (phone or video) appointment will be sent information about how to use the service.
If an appointment is not needed, we will contact the person and their referring GP or specialist.
- Dr Nicola Poplawski — Clinical Geneticist
- accepts general and cancer genetics referrals
- Dr Krzysztof Bernatowicz — Clinical Geneticist
- accepts general and cancer genetics referrals
- Dr Eryn Dow — Clinical Geneticist and Medical Oncologist
- accepts cancer genetics referrals
- Dr Sunita De Sousa — Endocrinologist
- accepts endocrine genetics referrals
- Dr Kathryn Waddell-Smith — Cardiologist
- accepts cardiac genetics referrals
We work closely with the Paediatric and Reproductive Genetics Unit and Metabolic Unit at the Women's and Children's Hospital.