Skip links and keyboard navigation

Paediatric or adolescent and young adult (AYA) cancer genetics- Affected individual from a family in whom a mutation in a cancer predisposition gene has NOT been identified


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 referrals to emergency relating to clinical genetics
  • The Paediatric or adolescent and young adult (AYA) cancer condition contains commonly referred conditions for younger patients but is not an exhaustive list.  Please consider the information provided in other conditions within the Cancer Genetics CPC if the referral is for a condition that affects people of all ages.
  • 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 
  • Any category 2 patient where genetic testing has not been initiated by the referrer will be contacted by GHQ within 6 weeks.  All other patients (for example those with retinoblastoma) will be contacted once genetic test results are available.
  • In some situations, the family may not wish to engage with the genetics service immediately but may wish to seek genetic counselling at a later date. It is important in this situation that the appropriate blood and tumour samples are collected so that DNA is available for testing at a later time if the parents so wish. 
  • The following resources can be found on the GHQ website:
    • Retinoblastoma
    • ATRT
    • Pleuropulmonary blastoma
    • Haematological malignancy
    • General instructions for DNA storage for children with cancer
  • Please contact GHQ or Pathology Queensland for further instructions.
  • 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

Clinical Resources

Patient Resources


Minimum Referral Criteria

  • Category 1
    (appointment within 30 calendar days)
    • Patients diagnosed at age < 25 years with any of the following cancers that have not been in continuous remission for ≥ 3 years:
      • pleuropulmonary blastoma
      • atypical teratoid/rhabdoid tumour (ATRT)
      • adrenocortical carcinoma, choroid plexus tumour or any other cancer that fulfils criteria for genetic testing for TP53
      • medullary thyroid cancer
      • medulloblastoma 
      • haematological malignancy (also see Haematology (excluding cancer) genetics condition and Haematological malignancy condition within Genetics CPC)
      • phaeochromocytoma/paraganglioma
      • basal cell carcinoma
      • gastrointestinal stromal tumour
      • cystic nephroma
      • any cancer with loss of staining for mismatch repair proteins.
    • Cancers listed in Category 2 with poor prognosis  
  • Category 2
    (appointment within 90 calendar days)
    • Patients diagnosed at age < 25 years with any of the following cancers that have not been in continuous remission for ≥ 3 years:
      • ovarian sex cord tumour with annular tubules (SCTAT)
      • Sertoli-Leydig cell tumour
      • colorectal cancer
      • any patient that has cancer who has features of NF1
      • any childhood cancer with other personal or family history which suggests another familial cancer predisposition syndrome
      • any childhood cancer and a personal history of developmental delay, intellectual or neurological impairment or congenital abnormalities
      • adult cancers presenting in childhood/ young adulthood
    • Tumour testing has identified a potential germline mutation in a familial cancer predisposition gene
    • An individual whose referral to GHQ was recommended after review of a relative
  • Category 3
    (appointment within 365 calendar days)
    • Previously treated cancers listed in Category 1 or 2 criteria in continuous remission for ≥3 years (includes adult survivors)
    • Retinoblastoma 


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
    • expected prognosis and parental wishes regarding timing of GHQ contact with family
  • Confirmation of OOHC (where appropriate) and contact details to send correspondence for OOHC

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.