UNAFFECTED blood relative of an individual with a genetic disorder caused by a specific mechanism in a single gene (predictive/pre-symptomatic testing)
ADULT
PAEDIATRIC
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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 emergency indicators identified for General Genetics; routine prioritisation applies
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- In order to offer predictive genetic testing, the patient/carer needs to be able to provide sufficient information for GHQ to obtain details of the family genetic diagnosis or gene mutation and where possible, familial control sample of DNA for testing. This information may include one or more of the following:
- names and DOB of family members
- details of the genetic services where genetic testing has been done
- family letters
- copies of genetic test reports
- Patients/carers will be asked to provide detailed family information during a video telehealth or telephone consultation. One or more ‘Consent to Release information’ forms may be provided to forward to family members to obtain their consent to confirm details of the reported family history.
- Predictive genetic testing should ONLY be offered by a geneticist or genetic counsellor following genetic counselling and written informed consent.
- Predictive genetic testing is ONLY offered to children and adolescents if the results of genetic testing will change management (i.e. for conditions where surveillance and/or risk reducing medical or surgical management is recommended in childhood), in line with international guidelines.
- Predictive genetic testing will NOT be offered to children and adolescents for adult-onset genetic conditions, in line with international guidelines.
- Predictive testing will NOT be offered for the following:
- variant of uncertain significance (class 3 variant)
- variant in a gene of uncertain significance (i.e. limited/refuted gene-disease association)
- variant that has been identified using a non-accredited clinical laboratory (e.g. research genetic testing or Direct to Consumer testing).
- GHQ may provide families with partially completed referral proformas to facilitate referrals for this clinical indication. These referrals need to be completed IN FULL by the referring doctor.
- If the patient has a very limited life expectancy, arrange for a blood collection of 2x4mL EDTA tubes to be sent to the Molecular Genetics Laboratory, Pathology Queensland (RBWH) for “DNA extraction and storage” prior to or at the time of referral.
- Clinical urgency is the dominant consideration in the prioritisation of a referral for a child currently in out of home care (OOHC), or at risk of entering or leaving OOHC.
- The offer of an appointment by GHQ does NOT guarantee that the patient will be offered a publicly funded genetic test.
This information need not be included with the referral but will subsequently be requested by GHQ.
Please see HGSA guideline on Predictive and pre-symptomatic genetic testing in adults and children.
Please see HGSA guideline on Predictive and pre-symptomatic genetic testing in adults and children.
The referring doctor and parents will be provided information about appropriate age of re-referral.
Clinical and patient resources
- In order to offer predictive genetic testing, the patient/carer needs to be able to provide sufficient information for GHQ to obtain details of the family genetic diagnosis or gene mutation and where possible, familial control sample of DNA for testing. This information may include one or more of the following:
| Category 1 (appointment within 30 calendar days) |
Please refer to Prenatal and reproductive genetics within the Genetics CPC |
| Category 2 (appointment within 90 calendar days) |
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| Category 3 (appointment within 365 calendar days) |
|
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
- 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
2. Essential referral information Referral will be returned without this
- Clear indication of clinical need for urgency (see above)
- Known details of relevant family history including:
- name of genetic diagnosis
- relation to patient including whether maternal or paternal
- name of the gene in which a mutation has been identified
- As much detail as possible about the patient's personal history of disease including the following:
- relevant clinical assessments (e.g. speciality specific report)
- relevant non-genetic diagnostic investigations (e.g. pathology, imaging, organ/speciality specific)
- Confirmation of out of home care (OOHC) (where appropriate) and contact details to send correspondence for OOHC
To preserve confidentiality, do NOT include details or attach reports which identify another family member with the referral
Please indicate on referral if these are available within ieMR
3. Additional referral information Useful for processing the referral
- GHQ reference number (GF) if the family is known to GHQ
- attach the “family information letter” if available
- Family reference number and name of the service if the family are known to another genetic service
- attach the “family information letter” if available
- To preserve confidentiality, do NOT include details or attach reports which identify another family member with the referral
4. Request
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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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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.
- 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.
- 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.
- 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.
Last updated: 4 December 2024
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