Cardiac genetics
ADULT
PAEDIATRIC
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Emergency
If any of the following are present or suspected, please refer the patient to the emergency department (via ambulance if necessary) or follow local emergency care protocols or seek emergent medical advice if in a remote region.
- No referrals to emergency relating to clinical genetics
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Other useful information for referring practitioners Not and exhaustive list
Minimum Referral Criteria
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Category 1
(appointment within 30 calendar days)- The patient has a personal and/or any family history (blood relatives) of a cardiac genetic diagnosis AND the patient or their partner is pregnant and an opinion/genetic testing will guide investigations, management, and outcome in pregnancy
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Category 2
(appointment within 90 calendar days)- The patient has a personal history of a cardiac genetic diagnosis AND is currently on or about to go onto a palliative care pathway
- The patient has a personal and/or any family history (blood relatives) of a cardiac genetic diagnosis, where a specific gene mutation HAS been identified on a genetic test
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Category 3
(appointment within 365 calendar days)- The patient has a personal and/or any family history (blood relatives) of a cardiac genetic diagnosis, where a specific gene mutation has NOT been identified on a genetic test
Please insert the below information and minimum referral criteria into referral
1. Reason for request Indicate on the referral
- To establish a diagnosis
- For treatment or intervention not otherwise accessible to the patient
- For advice regarding management
- To engage in an ongoing shared care approach between primary and secondary care
- Reassurance for GP/second opinion
- Reassurance for the patient/family
- For other reason (e.g. rapidly accelerating disease progression)
2. Essential referral information Referral will be returned without this
- As much detail as possible about the patient's personal history of disease including the following:
- clear indication of clinical need for urgency (see above)
- clinical diagnosis and features
- age at diagnosis
- treatment (completed and planned)
- relevant pathology (if results are available on Auslab please indicate this on referral)
- relevant organ specific diagnostic investigations and/or imaging results (especially ECG, MRI and echocardiogram) (if results are available within ieMR please indicate this on referral)
- details and results of genetic testing if performed
- Presence or absence of relevant family (blood relatives) history
- Confirmation of OOHC (where appropriate) and contact details to send correspondence for OOHC
3. Additional referral information Useful for processing the referral
- Known details of relevant family history (first and second-degree blood relatives) including:
- clinical diagnosis/features and age at diagnosis
- relation to patient including whether maternal or paternal
- autopsy reports (where relevant and available)
- If the family is known to GHQ, the GHQ reference number (GF)
- If the family are known to another genetic service, the name of the service and family reference number (if available)
4. Request
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General referral information
Patient's 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
Referring Practitioner Details
- Full name
- Full address
- Contact details – telephone, fax, email
- Provider number
- Date of referral
- Signature
Relevant clinical information about the condition
- Presenting symptoms (evolution and duration)
- Physical findings
- Details of previous treatment (including systemic and topical medications prescribed) including the course and outcome of the treatment
- Body mass index (BMI)
- Details of any associated medical conditions which may affect the condition or its treatment (e.g. diabetes), noting these must be stable and controlled prior to referral
- Current medications and dosages
- Drug allergies
- Alcohol, tobacco and other drugs use
Reason for request
- To establish a diagnosis
- For treatment or intervention
- For advice and management
- For specialist to take over management
- Reassurance for GP/second opinion
- For a specified test/investigation the GP can't order, or the patient can't afford or access
- Reassurance for the patient/family
- For other reason (e.g. rapidly accelerating disease progression)
- Clinical judgement indicates a referral for specialist review is necessary
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.)
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Notes
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Please note that 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.
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A change in patient circumstance (such as condition deteriorating, or becoming pregnant) may affect the urgency categorisation and should be communicated as soon as possible.
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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.
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Last updated: 13 June 2023
