Referral to emergency
If any of the following are present or suspected, please refer the patient to the emergency department (via ambulance if necessary) or seek emergent medical advice if in a remote region.
- nil
For clinical advice, please telephone the relevant specialty service.
Central Adelaide Local Health Network
- Royal Adelaide Hospital - Adult Genetics Unit (9.00 am to 5.00 pm) (08) 7074 2697
Women's and Children's Health Network
- Women's and Children's Hospital - Paediatric and Reproductive Genetics Unit (8.30 am to 5.30 pm Monday to Friday (08) 8161 7000, pager #4831 and request genetics medical officer on call
Inclusions
Confirmed or suspected diagnosis/family history of:
- a chromosome abnormality has been identified and report indicates causality for the individual’s presentation
- an individual who is pregnant or planning a pregnancy with any microarray abnormality that could be passed to offspring – refer to Paediatric and Reproductive Genetics Unit
- deletions or duplications on microarray that are classified as variants of uncertain significance where clinical geneticist interpretation is required
- incidental genetic findings identified on microarray that confer a future risk to an individual’s health, for example, increased risk of cancer
Exclusions
- microarray results identifying the individual as a carrier of a recessive genetic condition
- more common deletions and duplications where there is a detailed unique booklet. If the individual/couple is planning a pregnancy or currently pregnant, then referral should be considered. Examples of common deletions and duplications include:
- 1q21.1 deletion or duplication
- 15q11.2 deletion or duplication
- 16p11.2 deletion or duplication
Triage categories
Category 1 — appointment clinically indicated within 30 days
- an individual who has any microarray abnormality that could be passed to offspring
- and the patient or their partner is pregnant
- and review/genetic testing will impact investigation and management in pregnancy
Patients will generally be seen within 7 days, usually 2 to 3 days
Category 2 — appointment clinically indicated within 90 days
- a new diagnosis of a chromosome abnormality and the microarray report indicates causality for the individual’s presentation
- an individual who has any microarray abnormality that could be passed to offspring currently planning a pregnancy
- incidental genetic findings identified on microarray that confer a future risk to an individual’s health, for example, increased risk of cancer
Category 3 — appointment clinically indicated within 365 days
- a microarray finding classified as a variant of uncertain significance where clinical geneticist interpretation is required
Essential referral information
Completion required before first appointment to ensure patients are ready for care. Please indicate in the referral if the patient is unable to access mandatory tests or investigations as they incur a cost or are unavailable locally.
- as much detail as possible about the patient’s personal history of disease including the following:
- clear indication of clinical need for urgency e.g., has the referral been prompted by a pregnancy or imminently planned pregnancy
- clinical diagnosis and features
- age at diagnosis
- treatment, completed and planned
- details and results of genetic testing if performed, include a copy of genetic test result
- relevant organ specific diagnostic investigations, histopathology reports and/or imaging results
- presence or absence of relevant family history with relevant names of affected relatives
Additional information to assist triage categorisation
- known details of relevant family history (first and second-degree blood relatives) including:
- date of birth
- previous names/surnames
- clinical diagnosis/features and age at diagnosis
- relation to patient including whether maternal or paternal
- autopsy reports where relevant and available, coronial autopsies require written consent from the coroner to be able to be shared
- identify if the family is known to clinical genetics in South Australia where possible, provide the genetics file number and names of relative/s seen
- if the family are known to another genetic service, provide the location/name, and family reference number if available
Clinical management advice
The Paediatric and Reproductive Genetics unit (PRGU) provides services through a network of clinics at the Women’s and Children’s Hospital (WCH), Flinders Medical Centre (FMC), Port Augusta Hospital, Whyalla Hospital and Mount Gambier Hospital and telehealth. Referrals should still be addressed to the PRGU at WCH.
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.
If the patient is an untested blood relative of a person with an identified causative gene variant/chromosomal anomaly, please refer to the following CPC:
Patients will be asked to provide detailed written family information using electronic correspondence, or paper-based correspondence if requested. This may be followed by a telephone consultation with a genetic counsellor or allied health assistant prior to the appointment.
Consent forms may be provided for relatives for permission to access information about their health.
Referrals for children under 6 months are likely to be triaged with a higher priority.
An individual who is pregnant or planning a pregnancy who has any microarray abnormality that could be passed to offspring (please refer to PRGU.
Clinical resources
- Central Adelaide Local Health Network - Adult Genetics Unit Referral Form (PDF 216KB)
- Health Centre for Genetics Education (New South Wales)
- Royal Australian College of General Practitioners - Genomics in General Practice
- Unique - Understanding Rare Chromosome and Gene Disorders
Consumer resources
- QIMR Berghofer Medical Research Institute - Your Blood, Your Story video for Aboriginal & Torres Strait Islanders
- Unique - Understanding Rare Chromosome and Gene Disorders
Reason for request
- to establish a diagnosis
- for treatment or intervention
- for advice and management
- for specialist to take over management
- for a specified test/investigation the General Practitioner cannot order
- for other reason (e.g. rapidly accelerating disease progression)
- transfer of care from another tertiary service
- clinical judgement indicates a referral for specialist review is necessary.
Patient demographic details
- full name, including aliases
- date of birth
- residential and postal address
- telephone contact number/s – home, mobile and alternative
- Medicare number, where eligible
- name of the parent or caregiver, if appropriate
- preferred language and interpreter requirements
- identifies as Aboriginal and/or Torres Strait Islander
Clinical modifiers
- impact on employment
- impact on education
- impact on home
- impact on activities of daily living
- impact on ability to care for others
- impact on personal frailty or safety
- identifies as Aboriginal and/or Torres Strait Islander
Other relevant information
- Willingness to have surgery, where surgery is a likely intervention.
- Choice to be treated as a public or private patient.
- Compensable status, e.g. DVA, Work Cover, Motor Vehicle Insurance, etc.
- Relevant social history, including identifying if you feel your patient is from a vulnerable population, under guardianship/out-of-home care arrangements and/or requires a third party to receive correspondence on their behalf.
- Triage of a specialist outpatient referral is based on clinical decision making to allocate an appropriate urgency categorisation.
- Where appropriate and where available, the referral may be streamed to an associated public allied health and/or nursing service. Access to some specific services may include initial assessment and management by associated public allied health and/or nursing, which may either facilitate or negate the need to see the public medical specialist.
- A change in patient circumstance (such as condition deteriorating or pregnancy) may affect the urgency categorisation and should be communicated as soon as possible.
- All new referrals will be triaged by a consultant and appointment times scheduled according to clinical urgency.
Adolescents transitioning from paediatric to adult specialist services require a formal handover from paediatric specialist clinician to adult specialist clinician as well as a formal referral from the referring specialist to ensure initial transfer of care is completed.
The General Practitioners role in this process is to provide support to patients as part of holistic care. All ongoing referrals to specialists can subsequently be provided by the General Practitioner once the transfer of care has occurred.