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Other conditions (A/P-AFF)

relating to cancer genetics (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

  • 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 days is desirable

  • A relative of a patient seen by GHQ, where the relative has been identified as appropriate for genetic testing

Category 3

Appointment within 365 days is desirable

Skin conditions

  • Mucocutaneous lesions which may be suggestive of familial cancer predisposition condition 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 condition 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 condition 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

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

  • 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.

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 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

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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