Skip links and keyboard navigation

Individual who has undergone mainstreamed and/or private genetic testing for cancer predisposition genes

ADULT PAEDIATRIC

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.


  • No referrals to emergency relating to clinical genetics
  • List of cancer predisposition genes for which GHQ offers publicly funded confirmation testing after genetic counselling when a mutation (pathogenic/class 5 or likely pathogenic/class 4 variant) has been identified by an accredited laboratory (contact GHQ for assistance with identifying an accredited laboratory):
    • AIP, APC, ATM, BAP1, BMPR1A, BRCA1, BRCA2, BRIP1, CHEK2, CDC73, CDH1, DICER1, EPCAM, MEN1, MLH1, MSH2, MSH6, MUTYH, PALB2, POLD1, POLE, PMS2, PTEN, RAD51C, RAD51D, RB1, RET, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHC, SDHD, SMAD4, SMARCB1, STK11, TP53, VHL
  • A case by case decision will be made about the clinical utility of offering confirmation testing for genes/variants not listed above. 
  • GHQ also offers publicly funded clinical confirmation testing after genetic counselling when a mutation (pathogenic/class 5 or likely pathogenic/class 4 variant) has been identified in one of the genes listed above in a research study. Any planned research studies involving germline genetic testing of cancer predisposition genes should be discussed with GHQ prior to commencement.

Clinical Resources

Patient Resources

 

Minimum Referral Criteria

  • Category 1
    (appointment within 30 calendar days)
    • Patients with breast cancer referred for genetic counselling and confirmation of an identified mutation in a cancer predisposition gene where the results will influence local or systemic treatment considerations 
    • Patients with ovarian cancer or any other cancer associated with poor prognosis referred for:
      • confirmation of an identified mutation in a cancer predisposition gene;
      • genetic counselling regarding an identified unclassified variant in a cancer predisposition gene; and/or
      • clinical suspicion of a cancer predisposition syndrome and negative genetic testing.
  • Category 2
    (appointment within 90 calendar days)
    • Patients with an identified mutation in a cancer predisposition gene not fulfilling Category 1 criteria
  • Category 3
    (appointment within 365 calendar days)
    • Patients referred for genetic counselling regarding an identified mutation/variant in a gene of low or unknown clinical utility
    • Patients referred for genetic counselling regarding an identified unclassified variant (who do not fulfil Category 1 criteria) (further information can be found on the GHQ website)

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 cancer (if relevant) including the following:
    • type/s of cancer
    • age at diagnosis
    • treatment including outcome or planned treatment
    • relevant pathology (if results are available on Auslab please indicate this on referral)
  • Results of genetic testing

3. Additional referral information Useful for processing the referral

  • If the family is known to GHQ, include the GHQ reference number (GF) if known

4. Request

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.)
  • 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.