New South Wales clinical pathway

^†Limited private genetic counselling and clinical genetics and testing services in New South Wales. No state funding is available for patients wishing to see a private geneticist or for private genetic testing. Patients can be referred to the public clinics for clinical genetic testing and genetic counselling information.
^‡While a causative mutation can be found for 60–80% of patients with IRD, for others the results are negative or inconclusive and may require further genetic and clinical investigations to help clarify the diagnosis.

For comprehensive information on IRD pathways in NSW, including diagnosis, referral and eligibility for gene therapy, please visit: Inherited retinal disease pathways

For a complete list of public and private clinical genetics services in each jurisdiction, please click here.

Public genetic clinics

Patients with confirmed IRD should be referred to their local health district (LHD) or specialty health network (SHN) genetic service.

For people ≥16 years, referral is appropriate once an ophthalmologist with appropriate expertise has made a clinical IRD diagnosis.

For children <16 years with confirmed retinal disease (prioritising Leber congenital amaurosis and other early-onset retinal disease), refer to the LHD/SHN genetic service or The Children’s Hospital at Westmead Genetic Eye Clinic.

There is no applicable genetic service for suspected IRD (with or without family history); refer to ophthalmic services first, before referral to genetic services.

For help with specific IRD cases, ophthalmologists and LHD genetics clinics can contact the Genomic Eye Multidisciplinary Team at Westmead Hospital/The Children’s Hospital at Westmead. This multidisciplinary team meets monthly to discuss the more complex cases and referring clinicians are welcome to participate in the discussion of their case via webinar.

Sydney – clinical genetic services by LHD

All the Sydney hospitals listed run a general genetics clinic, with some hospitals also providing specialty genetics clinics (eg neurogenetics, cancer genetics, ophthalmic genetics). For contact information for all these centres, visit the Genetic Service Finder.

Regional New South Wales – clinical genetic services

General genetics clinics are run in the following regional LHD centres of New South Wales.
For contact information, visit: https://www.genetics.edu.au/SitePages/Genetic-Services-listing-NSW.aspx

*Genetic services are run by the Victorian Clinical Genetic Services run out of The Royal Children’s Hospital.
Phone: (03) 8341 6201 | Fax: (03) 8341 6390 | Email: [email protected]

Queensland clinical pathway

^†No state funding is available for patients wishing to see a private geneticist or for private genetic testing. Patients can be referred into the public clinics for genetic counselling or testing if eligible.
^‡While a causative mutation can be found for 60–80% of patients with IRD, for others the results are negative or inconclusive and may require further genetic and clinical investigations to help clarify the diagnosis.

For a complete list of public and private clinical genetics services in each jurisdiction, please click here.

Genetic Health Queensland clinics

Genetic Health Queensland (GHQ) is a state-wide service based in Brisbane at the Royal Brisbane & Women’s Hospital (adults) and Queensland Children’s Hospital (children). GHQ holds genetic clinics in a number of specialty areas every week from these hospitals.

Adult and paediatric patients with suspected or confirmed IRD from all metro and regional hospitals/GHQ clinics as well as from specialist rooms and GPs can be referred directly to the GHQ ocular genetics clinic:

Regional Queensland – GHQ services

Weekly general genetic clinics are run by permanent GHQ genetic counsellors located in the following regional hospitals. A clinical geneticist from The Royal Brisbane & Women’s Hospital also visits the locations listed here regularly. For contact information for all these centres, visit the Genetic Service Finder.

Telehealth

Telehealth support is readily available as an alternative option for many patients with IRD in regional areas, if it’s clinically appropriate. Face-to-face appointments are still preferred for syndromic or suspected syndromic IRD patients. Patients are seen in wait-list order rather than by health district.

For further information contact the GHQ telehealth coordinator:
Phone: (07) 3646 1386 | Email: [email protected] (with ‘telehealth’ in the subject line)

South Australia clinical pathway

^†Limited private genetic counselling and clinical genetics and testing services in South Australia. No state funding is available for patients wishing to see a private genetic counsellor or geneticist, or for private genetic testing. Patients can be referred to SA Clinical Genetic Service for genetic testing if eligible.
^‡While a causative mutation can be found for 60–80% of patients with IRD, for others the results are negative or inconclusive and may require further genetic and clinical investigations to help clarify the diagnosis.

For detailed information on ophthalmic genetics clinics - including multidisciplinary ocular genetics, visit the SA Health website.

For a complete list of public and private clinical genetics services in each jurisdiction, please click here.

Paediatric genetics unit

The Paediatric Reproductive Genetics Unit (PRGU) and Flinders Medical Centre (FMC) ophthalmology department run a monthly multidisciplinary ocular genetics clinic at FMC. Dual genetics and ophthalmology referrals are required and addressed as follows:

• Genetics referrals - Professor Christopher Barnett, Paediatric and Reproductive Unit, Women’s and Children’s Hospital.

• Ophthalmology referrals - Dr Deepa Taranath, Ophthalmology Clinic Flinders, Medical Centre.

Adult genetic unit

The Adult Genetics Unit (AGU) provides services through a network of clinics at the Queen Elizabeth Hospital, Royal Adelaide Hospital (RAH), Flinders Medical Centre (FMC), the Lyell McEwin Hospital and telehealth. All referrals should be addressed to the AGU.

The offer of an appointment by a Clinical Genetics clinic does not guarantee that a publicly funded genetic test will be offered. For contact information for all these centres, visit the Genetic Service Finder.

Regional South Australia

Patients living in rural and remote parts of the state can access SA Clinical Genetic Services using Telehealth.

Western Australia clinical pathway

^†This institute provides a phenotyping service, mainly for research purposes. If a clinical genetic diagnosis is required, patients will be referred to Genetic Services Western Australia to confirm the result in a laboratory approved by the National Association of Testing Authorities, Australia or its international equivalent.
^‡While a causative mutation can be found for 60–80% of patients with IRD, for others the results are negative or inconclusive and may require further genetic and clinical investigations to help clarify the diagnosis.

For a complete list of public and private clinical genetics services in each jurisdiction, please click here:

Lions Eye Institute (children and adults)

GHWA works closely with the Lions Eye Institute. This research institute has specialty expertise in eye health and offers a phenotyping service for patients with suspected/confirmed IRD that can be bulk billed. Patients can be referred publicly for testing through the GHWA or privately to the retinal clinic.

Once patients with IRD have undertaken phenotype testing, they may be referred to the GHWA for confirmatory clinical genetic testing and management; be eligible for a clinical trial or research program; or can participate in both options if appropriate.

For further information visit: www.lei.org.au

Dr Fred Chen
Retinal genetics clinic
Phone: (08) 9381 0817 | Fax (for referrals only): (08) 9381 0700

Genetic Health Western Australia clinics (children)

GHWA is a state-wide service. All patients with suspected/confirmed IRD will be managed by the general genetics clinics in the main GHWA centres in Perth – King Edward Memorial Hospital (adults) or Perth Children’s Hospital (children). For contact information for all these centres, visit the Genetic Service Finder.

Clinicians allowed to refer directly to the GHWA (rather than through the CRS) should always contact King Edward Memorial Hospital in the first instance:

King Edward Memorial Hospital
Obstetrics and General Genetics
Level 4, Agnes Walsh House, 374 Bagot Road, Subiaco WA, 6008
Phone: Front desk: (04) 6458 1525 | Referring clinicians: (04) 6458 1242 | Fax: (04) 6458 1678 | Email: [email protected]

Regional Western Australia – Outreach clinics (adults and children)

Regional areas are serviced from the Perth centres via telehealth or outreach clinics. Quarterly outreach clinics are run in the following regional centres through the WA Country Health Service. The GHWA assigns patients a clinic based on geographical location and patient convenience. There are no genetic counsellors located in the regional outreach areas. They fly out with the geneticists as needed.

Frequency:

• Joondalup and Rockingham, monthly

• Albany, Bunbury, Geraldton and Kalgoorlie, every 3 months

• Port Hedland, every 6 months

• Karratha, yearly.

Eye multidisciplinary team meetings

For help with specific IRD cases, ophthalmologists can contact the Genomic Eye Multidisciplinary Team. This multidisciplinary team meets every 2 months to discuss the more complex cases and referring clinicians are welcome to participate in the discussion of their case via webinar. 
For further information email [email protected] or [email protected]

Victoria clinical pathway

^†Limited private genetic counselling and clinical genetics and testing services in Victoria. No state funding is available for patients wishing to see a private geneticist or for private genetic testing. Patients can be referred to the public clinics for genetic testing if eligible.
^‡While a causative mutation can be found for 60–80% of patients with IRD, for others the results are negative or inconclusive and may require further genetic and clinical investigations to help clarify the diagnosis.

For a complete list of public and private clinical genetics services in each jurisdiction, please click here.

State-wide ocular genetics clinics (adults)

Victoria has a state-wide Ocular Genetics Clinic (OGC) based at the Royal Victorian Eye and Ear Hospital (RVEEH) in Melbourne, which partners with the Royal Melbourne Hospital (RMH) Clinical Genetics Service; all new adult ocular referrals are initially triaged at RVEEH. Adult patients with suspected or confirmed IRD can be referred directly to the Ocular Genetics Clinic by genetic services, specialists, GPs and other eye healthcare professionals. For contact information for all these centres, visit the Genetic Service Finder.

This clinic runs fortnightly multidisciplinary team meetings and referrals can be made to the following specialists:

• Dr Jonathan Ruddle (ophthalmologist and clinic head)

• Dr Thomas Edwards (retina specialist)

• A/Prof Alex Hewitt (ophthalmologist)

• Associate Professor Fred Chen (retina specialist)

• Mark Cleghorn (geneticist)

State-wide Victorian Clinical Genetic Service at the Royal Children's Hospital (children)

Paediatric patients with suspected or confirmed IRD can be referred to the Victorian Clinical Genetic Service (VCGS), a not-for-profit subsidiary of the Murdoch Children’s Research Institute, which is based at the Royal Children’s Hospital in Melbourne. VCGS run a number of regional clinics and patients referred from regional Victoria will be seen locally where appropriate.

Melbourne genetics clinics offering a limited service for IRD patients

Austin Health, Monash Health and Alfred Health
General genetic services for adults and children with possible or confirmed inherited disease.
Referral information: Austin: https://www.austin.org.au/page?ID=1655  | Monash: https://monashhealth.org/services/clinical-genetics/
Alfred: https://www.alfredhealth.org.au/services/clinical-genetics-and-genomics-service 
 

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