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Other conditions relating to cancer genetics


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
  • The offer of an appointment by GHQ does NOT guarantee that the patient will be offered a publicly funded gene test.
  • If the patient is an UNTESTED blood relative of a person with an identified mutation in a cancer predisposition gene please refer to the Untested blood relative condition within the Genetics CPC 
  • If the patient has undergone mainstreamed and/or private genetic testing refer to the Mainstreamed or private testing condition within the Genetics CPC 
  • Patients will be asked to provide detailed family information either during a telephone consultation (if urgent) or via a family history questionnaire (Cat 3). 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.
  • If the patient fulfils eviQ criteria for genetic testing and has a very limited life expectancy, arrange for two separate blood collections of 2x4mL EDTA tubes each to be sent to the Molecular Genetics Laboratory, Pathology Queensland (RBWH) for DNA extraction and storage prior to or at the time of referral. Advise Pathology Queensland that these specimens have been collected in accordance with Genetics Health Queensland protocols.

Clinical Resources

Patient Resources


Minimum Referral Criteria

  • Category 1
    (appointment within 30 calendar days)
    • A personal history of a brain tumour with a family history of brain tumours and/or other Li-Fraumeni associated cancers
    • Personal and family history of mesothelioma not explained by asbestos exposure
  • Category 2
    (appointment within 90 calendar days)
    • A relative of a patient seen by GHQ, where the relative has been identified as appropriate for genetic testing
  • Category 3
    (appointment within 365 calendar days)

    Skin conditions

    • Mucocutaneous lesions which may be suggestive of familial cancer predisposition including:
      • BAPoma
      • multiple pilomatrixomas
      • fibrofolliculomas
      • trichodiscomas
      • trichelommomas
      • cutaneous leiomyomas
      • oral papillomas
      • mucocutaneous pigmentation characteristic of Peutz-Jeghers Syndrome
      • sebaceous adenoma or adenocarcinoma with abnormal MMR immunohistochemistry) 
      • basal cell carcinomas in an individual fulfilling clinical criteria for Gorlin (Nevoid Basal Cell Carcinoma) Syndrome

    Central or peripheral nervous system conditions

    • Central or peripheral nervous system conditions which may be suggestive of familial cancer predisposition including:
      • endolymphatic sac tumour
      • ciliary body medulloepithelioma
      • pituitary blastoma or pineoblastoma
      • retinal angioma diagnosed at age < 40 years 
      • CNS haemangioblastoma diagnosed at age < 30yrs
      • two or more retinal angiomas or CNS haemangioblastomas at any age
      • unilateral vestibular schwannoma diagnosed at age < 30 years
      • cranial meningioma diagnosed at age < 20 years
      • multiple meningiomas or mengingioma and two or more blood relatives with meningioma
      • schwannoma diagnosed at age < 16 years
      • optic nerve pathway, brain or spinal cord glioma in a patient with a personal or family history suggestive of NF1
      • typical NF2 related retinal hamartoma diagnosed at age < 16 years
      • two NF2-related tumours at any age e.g. meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities
      • CHRPE (Congenital retinal pigment epithelial hypertrophy) 
      • an individual with two or more CNS cavernomas (cerebral cavernous malformations) or one CNS cavernoma and a family history of CNS cavernomas (also see Neurology genetics condition within Genetics CPC)

    Other conditions

    • Other conditions which may be suggestive of familial cancer predisposition including:
      • Individuals that fulfil clinical criteria for a cancer predisposition syndrome
      • nasal chondromesenchymal hamartoma
      • multiple bilateral basal lung cysts with no apparent cause
      • odontogeneic keratocysts
      • fulfils clinical criteria for a cancer predisposition syndrome
      • intra-abdominal or abdominal wall desmoid tumour diagnosed at age ≤ 60 years

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 including the following:
    • type/s of cancer
    • age at diagnosis
    • treatment including outcome
    • relevant imaging
    • relevant pathology including results of any genetic testing if performed (if results are available on Auslab please indicate this on referral)
    • known relevant family history

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.