King Edward Memorial Hospital
Genetic Services of Western Australia
Publications and Resources
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
- a network of clinics in metropolitan Perth
- a network of outreach clinics in country areas (Bunbury,
Albany, Port Hedland, Kalgoorlie and Geraldton)
- telemedicine and telephone counselling where appropriate
- consultation in hospital wards, neonatal nurseries,
outpatients, and after hours on-call cover
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:
- predictive testing for Huntington disease with the Neurosciences
- prenatal diagnostic services with KEMH
- diagnosis, counselling and family assessment of children
with intellectual disability with the Disability Services
The department also has significant working relationships
with the following departments and institutes:
- Department of Health Genomics Directorate
- Cytogenetics Laboratory at KEMH
- Department of Pathology KEMH
- Department of Clinical Chemistry PMH (Newborn Screening
Program, Maternal Serum Screening Program)
- Fertility Clinics
- Cancer Foundation of WA
- Cranio-Maxillo-Facial Unit PMH
- Birth Defects Register
- Fetal Medicine Service
- Diagnostic Imaging (KEMH)
- Institute for Child Health Research
- University of WA
- School of Paediatrics and Child Health
Undiagnosed Diseases Program - Western Australia (UDP-WA)
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:
- Are generally at least 6 months old
- Have chronic, complex and typically multisystem diseases
- Are well known to WA Health, specifically Princess Margaret Hospital and the UDP-WA team
- Have typically had multiple specialist assessments and hospital admissions
- Have clinical factors supporting the possibility of obtaining a diagnosis with current approaches, yet remain undiagnosed
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.
What are the chances of diagnosis?
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.
Who will deliver the program?
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.
How will it be delivered?
The program will be delivered in seven key stages:
- The expert panel meets to review medical cases before patients are admitted to the program. During this meeting they map out a series of tests and examinations they believe will optimise the chance of finding a diagnosis.
- Parents/caregivers of children are invited to take part in the program and following their acceptance, have a conversation with the Program Coordinator to learn about the program.
- Patients attend a day facility at the children’s hospital for up to five days where they will undertake the range of tests and examinations set out by the expert panel.
- The UDP-WA team shares de-identified data about the child with national and international partners to maximise the opportunity for finding a diagnosis.
- The team will determine whether a definitive diagnosis can be found at this stage.
- A report is written for patients which will outline whether a definitive diagnosis can be found as well as discussing management options for the condition.
- Parents/caregivers of children in the program attend a meeting to discuss the findings.
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.
Information Booklet 2016
How do you Make an Appointment with
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.
View the Genetic Services of WA – referral guidelines for clinicians website for referral forms.
Genetic Paediatric Services
- A child with features suggestive of a specific genetic disorder.
- Unexplained congenital abnormalities or childhood disabilities affecting intellectual development, hearing or vision. Please note that there are strict criteria around referrals for hearing – clinicians are advised to read the referral guidelines.
- A child with a known family history of a genetic disorder who needs assessment.
- Counselling for families/carers following a genetic diagnosis in a child regarding: adjustment and coping; talking with children/family/friends/school; pregnancy planning and decision-making.
Please print off a copy of our Genetic Paediatric Service Referral Form complete it and fax it back to 6458 1725.
Obstetrics and General Genetic Services
- A family history of a specific genetic disorder, particularly when considering pregnancy.
- An adult with features suggestive of a specific genetic disorder.
- Foetal anomaly diagnosis and counselling.
- Planning or confirmed pregnancy between close relatives (first cousins).
- Maternal age of 40 or greater at estimated date of delivery. We recommend consideration of the first trimester screening test prior to referral to GSWA.
- We do not routinely accept referrals for increased risk on prenatal screening tests. Referrals will be accepted on a case by case basis only.
- We do not see patients for exposure to known teratogens (drug category D or X) during pregnancy. Patients should be referred to the Obstetric Medicines Information Service – phone 6458 2723, 8.30am – 5.00pm, Monday to Friday.
Referrals to the Familial Cancer Program
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.
Risk assessment and management
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:
- the numbers of relatives that have cancer
- the type of cancer they had
- the ages at which they were diagnosed
- whether any other family members have already had genetic testing
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.
Referrals to the Familial Cancer Registry
Clients may be referred to the registry:
- by their GP or specialist
- from the Familial Cancer Unit geneticist or counsellor
- from other family members who are Registry clients,
self-referral when there is a strong family history
Family History Indicators Include:
- three or more family members on the same side of the
family with the same or related cancer
- at least two successive generations affected
- diagnosis at a young age - under 50 for colorectal
and ovarian cancer, under 40 for breast cancer
- when another family member has had a positive gene
- where there is no positive gene result but the family
history is highly suggestive of a mutation
- where history is not known, family risk is assessed
on an individual basis
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:
- Genetic counsellors are usually graduate health professionals
with specialist training in genetics and counselling.
They undergo a training process certified by the Human
Genetics Society of Australasia (HGSA) to provide genetic
counselling in conjunction with a clinical geneticist.
- The clinical geneticist is a medical practitioner with
a genetics specialty, also certified by the Human Genetics
Society of Australasia (HGSA) and the College of Physicians
of Australia, to provide clinical genetics services.
- Additional services such as prenatal diagnosis, carrier
detection, predictive testing and newborn screening services
are often important components of the genetic counselling
process and provide valuable information to the individual,
family and health professionals.