Paediatric or adolescent and young adult (AYA) cancer genetics (PO-AFF)

Affected individual from a family in whom a mutation in a cancer predisposition gene has NOT been identified (Paediatric Only Conditions)

Emergency department 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 clinical genetics.

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 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 days is desirable

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 NFI
- 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 days is desirable

Previously treated cancers listed in Category 1 or 2 criteria in continuous remission for ≥3 years (includes adult survivors)
Retinoblastoma

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 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 Genetic Health Queensland (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
If the patient has undergone mainstreamed and/or private genetic testing refer to the Mainstreamed or private testing condition
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.

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
- 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

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.

Clinical Modifiers (where relevant)

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

Reason for Referral (essential)

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 Information (essential)

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