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Individual who has undergone mainstreamed and / or private genetic testing for cancer predisposition genes (A/P-AFF)

(Adult and Paediatric Conditions in AFFECTED Patients)

Emergency referrals

If any of the following are present or suspected, 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 genetic testing or review

Does your patient wish to be referred?

Minimum referral criteria

Does your patient meet the minimum referral criteria?

Category 1

Appointment within 30 days is desirable

  • 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
    • clinical suspicion of a cancer predisposition syndrome and negative genetic testing

Category 2

Appointment within 90 days is desirable

  • Patients with an identified mutation in a cancer predisposition gene not fulfilling Category 1 criteria

Category 3

Appointment within 365 days is desirable

  • 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)

If your patient does not meet the minimum referral criteria

Consider other treatment pathways or an alternative diagnosis.

If you still need to refer your patient:

  • Please explain why (e.g. warning signs or symptoms, clinical modifiers, uncertain about diagnosis, etc.)
  • Please note that your referral may not be accepted or may be redirected to another service

Other important information for referring practitioners

Not an exhaustive list

  • 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.

Referral requirements

A referral may be rejected without the following information.

Essential referral information

  • 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

Additional useful information (useful for processing the referral)

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

Out of catchment

Metro North Health is responsible for providing public health services to the people who reside within its boundaries. Special consideration is made for patients requiring tertiary care or services that are not provided by their local Hospital and Health Service. If your patient lives outside the Metro North Health area and you wish to refer them to one of our services, inclusion of information regarding their particular medical and social factors will assist with the triaging of your referral.

  • 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

  • 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

  • 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

  • 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

  • Full name
  • Full address
  • Contact details – telephone, fax, email
  • Provider number
  • Date of referral
  • Signature

  • 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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