Genetic Services of Western Australia (GSWA) is the sole provider of clinical genetic services in Western Australia.
GSWA provides a state-wide service from King Edward Memorial Hospital for Women and Princess Margaret Hospital for Children through:
This multi-disciplinary service offers the full range of diagnostic, educational and training programs relevant to the modern practice of medical genetics. Services are provided by clinical geneticists and counsellors working closely with DNA and cytogenetic laboratories and associated disciplines, such as diagnostic imaging and obstetrics. The protocols and procedures accord with the Human Genetic Society of Australasia Guidelines for Clinical Genetic Services. The department is supported by two comprehensive in-house databases, one being dedicated to the Familial Cancer Registry.
Services are also provided by GSWA in collaboration with other groups, including:
The department also has significant working relationships with the following departments and institutes:
Australia’s first Undiagnosed Diseases Program is currently underway in Western Australia. The UDP-WA (Undiagnosed Diseases Program, Western Australia) aims to provide a definitive diagnosis for people with complex and long-standing medical conditions.
The program, adapted for the WA public health system from the highly successful United States National Institutes of Health UDP (NIH-UDP) (external site), was announced in late 2015. The UDP-WA officially commenced in March 2016, when a cross-disciplinary Expert Panel met to consider its first case.
The focus of the program is currently on children with undiagnosed conditions who meet the following criteria:
The UDP-WA aims to take on one new patient per month. The program is still in its early stages and is currently not accepting external referrals.
The UDP-WA reviewed its first case in March 2016 and was very fortunate to be able to find a definitive diagnosis for this patient. While the aim of the program is to provide a diagnosis for every patient admitted, it is expected that one in four patients will receive a diagnosis; the same diagnostic rate as the NIH-UDP. For those who do not receive a diagnosis, the team aims to provide a better understanding of the condition and will endeavor to use this information to develop an improved care management plan.
A team of specialist doctors and health professionals are delivering the UDP-WA. Included in this team are a Program Director who will oversee the program and a Program Coordinator who will work closely with patients and their families to manage their appointments. Families will also be provided genetic counselling services throughout the program. A key component of the team is an ‘expert panel’. This expert panel is made up of doctors from a range of medical specialties such as genetics, general pediatrics, endocrinology, neurology, gastroenterology, dermatology, oncology and respiratory medicine. They will come together at least once to review the medical history of patients referred to the program.
The program will be delivered in seven key stages:
There are multiple approaches to improve diagnosis for those with chronic, complex health problems.The NIH-UDP has generously shared its knowledge about running an undiagnosed diseases program and this was essential in the development of the UDP-WA. WA Health hopes the UDP-WA can help by sharing the knowledge and insights it gains from implementing the program with other states in Australia.
The below Information Booklet provides an overview of the UDP-WA and is subject to change as the program develops.
Your General Practitioner or specialist can refer you to Genetic Services. They will send us a referral letter and you will be contacted by a genetic counsellor, either by phone or letter, to obtain any additional information that might be required and arrange an appointment. There is no charge associated with the appointment.
Most cancers occur by chance and are not caused by an inherited predisposition. With our current resources, we are unable to offer appointments to people who are not at an increased risk of cancer. Less than 1% of people are at a potentially high risk of cancer due to an hereditary predisposition.
If you are concerned about your personal and/or family history of cancer contact your GP for a risk assessment. GP’s can make a referral to our service if the family are considered at high risk. Referral guidelines for GPs and specialists are available online. The following resources and risk assessment tools are also available online. Risk management and surveillance guidelines should be discussed with an experienced medical professional.
Please print off a copy of our Familial Cancer Program Referral Form complete it and fax it back to 6458 1725.
If you have trouble completing the form, or if you need further information, please call to speak with the duty genetic counsellor on 6458 1603. We will need information about:
We will use this information to determine how urgently you need to be seen and by whom. You then will receive an appointment or a call from a genetic counsellor. There is no charge associated with this service.
Clients may be referred to the registry:
Genetic counselling is the provision of information and support regarding genetic disorders, birth defects, health concerns or test results relating to the individual or their family. This may involve the diagnosis of a genetic condition and supportive counselling to assist decision making and the adjustment process that occurs when a condition is new to a family or individual. Genetic counselling may occur via telephone counselling or by appointment where the family or individual is reviewed at a genetic clinic.
Genetic counselling is provided by a team of health professionals: