Genetics counselling services are rare in rural and regional Australia. Find out about the history of Southern's genetic counselling services, and how the service has evolved.
For Matt Burgess, starting his career as a genetic counsellor in a regional town was a big learning curve, but one that set the foundation for his career.
"I’m a Newcastle boy. The role in Goulburn was the second position I applied for – I wasn’t even sure where it was exactly."
Matt worked as the genetic counsellor in Goulburn’s Regional Child Development Unit, between 2004 and 2005. The genetics service had been established in the early 1990s and had been on pause for 18 months when Matt moved to Goulburn as a new graduate.
Genetic Counsellor Matt Burgess worked at Goulburn's Regional Child Development Unit, between 2004 and 2005
"When I started, a big part of the role was just getting out there and talking to the providers in the area to let them know that I was there. I don’t think I saw a client for about a month."
With the service soon thriving, Matt was part of a multidisciplinary team providing comprehensive, client-centred, multigenerational care for families.
"It was a really valuable experience being embedded in the Child Development Unit. I learned a lot working alongside the paediatrician, the OT, the speech pathologist, and the psychologist. That was invaluable."
The service was an outreach location of the Liverpool Hospital Clinical Genetics Service in south west Sydney. Along with support from another rural Genetic Counsellor in Wagga, the partnership ensured he was well supported as an early career practitioner.
“It was good to go up there once a month or so and train and do some professional development. A clinical geneticist would also drive or fly down from Liverpool to do a day clinic with me. It was a really good foundation. It was an advantage that some of my peers never got. People appreciated being able to see me locally, but if my next available clinic wasn’t for months and then they could also get seen in Canberra or Sydney."
Genetics counselling services are rare in rural and regional Australia. In 2021, there were just 25 genetics counsellors working in NSW outside of metropolitan Sydney.
Genetic Counsellor Carolyn Rogers
Carolyn Rogers worked to establish the Genetic Counselling service at the Child Development Unit (CDU) in the early 1990s, alongside Professor Gillian Turner AO. Like Matt, she described working at the service, and moving to Goulburn, as a learning curve.
"I found moving to Goulburn a bit of a cultural shock. Even though I was newly married to a local, I wasn’t considered a local, even after 15 years in the town. However, with the establishment of the Police Academy, there were many residents who weren’t local, and we tended to join forces.
"I think Goulburn was chosen because it was reasonably central to the three health districts and being attached to the CDU, who also covered those three districts, made establishing a new service easier.
"Having a genetic service available to individuals in country and metropolitan areas is crucial to providing health care and equality. Many families are unable to travel the distance to major genetic units for many reasons (financial, distance, work commitments and difficulty getting the referred individual to the appointment) and would just not attend."
Carolyn went on to work with Professor Turner at the NSW Genetics of Learning Disability (GOLD) Service in Hunter New England Local Health District, providing genetic services to NSW families with fragile X syndrome and families who have two or more male relatives with intellectual disability.
Professor Gillian Turner AO (right) with her husband Professor Michael Partington
"I really enjoyed working with Professor Gillian Turner and when she moved from Sydney to Newcastle to be the Director of Hunter Genetics in 1996, she asked me to continue to work with her. I moved to Newcastle in 1997 and worked with her till she retired, a total of 20 years. Gill’s main interest started with Fragile X syndrome (which she pioneered worldwide) and then expanded to include all genetic causes of intellectual disabilities (ID). Gill received an AO in 2000 for her contributions to genetic research in the field of ID and she sadly passed away in September this year at the age of 93."
Today, Southern’s genetic counselling services continue to thrive, supporting pregnant women, children and adults who have been diagnosed with a genetic condition, are thought to have one, or are at risk of having one. The service assesses children who may have a genetic or an inherited cause for their problems, while also provides clinics for adults requiring information, testing, diagnosis and support for conditions. When it’s clinically indicated, the service can arrange for clients to be seen by a Geneticist, who can order tests for specific genetic conditions, including cancer genetic services.
Genetic counsellors evaluate and explain genetic test results, and support patients with their decision making while they learn and adjust to a genetic diagnosis on their journey to stay healthy and well. The service sits within Southern’s Child, Infant and Family Tertiary Service, based in Goulburn. The service continues its link with the Liverpool Hospital Clinical Genetics Service, with outreach clinics in Pambula, Moruya and Karabar Community Health Centre in Queanbeyan.
As a rural outreach service, the team can provide services closer to where the patient lives. For genetic counselling, this means that extended family can be more easily included, leading to a more inclusive and effective diagnosis.
The need for genetic counselling varies depending on the particular genetic test involved and the context of testing. Follow-up counselling is offered to ensure ongoing support, review previous information and to answer new questions as they arise.
The field of clinical genetics and genomics has grown significantly since the service’s establishment, both as a clinical specialty and in patient demand. Major advances have taken place during this time in the understanding of the human genome and the association between genetic variation and disease.
As a specialist service, access to the service requires a written referral from your GP or specialist. For children, a paediatrician referral is required (GP referrals are not accepted). Referrers should visit HealthPathways for referral information.
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