Haematological malignancy genetics (A/P-AFF)

Individual from a family in whom a mutation in a cancer predisposition gene has NOT been identified (Adult and Paediatric Conditions in AFFECTED Patients)

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

Acute leukaemia, myelodysplastic syndrome or high-grade lymphoma and a personal or family history of at least one of the following:
- cytopenias (including ITP), macrocytosis
- monosomy 7
- immune deficiency
- primary lymphoedema
- lung/liver disease
- premature greying
- skeletal abnormalities
- cancers suggestive of Li Fraumeni Syndrome
- family history of haematological malignancy
- tumour testing has identified a potential germline mutation in a familial cancer predisposition gene
A relative of an individual with a haematological malignancy who may be a donor for a planned allogenic stem cell transplant

Category 2

Appointment within 90 days is desirable

An individual whose referral to GHQ was recommended after review of a relative

Category 3

Appointment within 365 days is desirable

Patient with low grade and/or previously successfully treated high grade leukaemia/lymphoma and a personal or family history as listed in Category 1

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 Genetic Health Queensland (GHQ) does NOT guarantee that the patient will be offered a publicly funded gene test.
If patient imminently planned for chemotherapy and/or bone marrow transplant please arrange for the following samples to be collected and sent to Pathology Queensland for forwarding to the appropriate laboratory prior to commencement:
- 2 x 4mLs peripheral blood in EDTA to be sent to the Molecular Genetics Laboratory, RBWH requesting “DNA extraction and storage”
- 10-20 hairs with hair follicles attached to be sent to SA (South Australia) Pathology requesting “DNA extraction and storage”
- Consider requesting fibroblast culture if performing BMAT (send sample to cytogenetic laboratory RBWH)
- Consider skin biopsy if surgical procedure planned (send to cytogenetic laboratory RBWH)
Please contact GHQ or Pathology Queensland for further instructions
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
For a patient suspected of having a haematological predisposition syndrome who has presented with non-malignant disease please refer to the Haematology genetics condition
If the patient is planned for an allogeneic stem cell transplant from a related donor, simultaneous referral of the donor should be considered.
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
- whether allogeneic stem cell transplant is planned and if a related donor is being considered
- known details of relevant family history
Relevant pathology including results of any genetic testing if performed (if results are available on Auslab please indicate this on referral)
Relevant imaging.
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