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Haematological malignancy 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 offer of an appointment by 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 within the Genetics CPC
  • 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

Clinical Resources

Patient Resources

Minimum Referral Criteria

  • Category 1
    (appointment within 30 calendar days)
    • Acute leukaemia or high-grade lymphoma and a personal or family history of at least one of the following:
      • cytopenias (including ITP), macrocytosis
      • 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 fulfilling one of the criteria above who is a matched donor for a planned allogeneic stem cell transplant
  • Category 2
    (appointment within 90 calendar days)
    • An individual whose referral to GHQ was recommended after review of a relative.
  • Category 3
    (appointment within 365 calendar days)
    • Patient with low grade and/or previously successfully treated high grade leukaemia/lymphoma and a personal or family history as listed in Category 1.

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 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
  • Confirmation of OOHC (where appropriate) and contact details to send correspondence for OOHC
  • Relevant pathology including results of any genetic testing if performed (if results are available on Auslab please indicate this on referral)
  • Relevant imaging

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.