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Colorectal or small bowel 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 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
  • Eligibility for publicly funded genetic testing will be determined using eviQ criteria 
  • BRAF tumour testing should be arranged prior to referral for patients with loss of MLH1 and PMS2 staining on mismatch repair immunohistochemistry. Molecular BRAF testing is offered by the Molecular Genetics Laboratory, Pathology Queensland. 
  • 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.
  • Patients will be mailed a family history questionnaire to complete and return. Failure to do so may result in removal of the patient from the waitlist.
  • 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)
    • Colorectal or small bowel cancer fulfilling Category 3 criteria with at least one of the following:
      • metastatic disease
      • the nature or extent of surgery will be determined by the results of genetic testing (if offered).
  • Category 2
    (appointment within 90 calendar days)
    • Small bowel cancer fulfilling the Category 2 or 3 criteria for colorectal cancer
    • Colorectal cancer with at least one of the following:
      • diagnosed at age < 40 years
      • A patient who fulfils Category 3 criteria and has a limited life expectancy due to advanced age and/or co-morbidities
      • tumour testing detected abnormal MMR immunohistochemistry or microsatellite instability (MSI) (Link to GHQ website) (except where there is loss of expression of MLH1 and PMS2, and either hypermethylation of the MLH1 promoter or the BRAF V600E mutation is detected in the tumour)
      • features suggestive of Familial Adenomatous Polyposis (FAP):
        • fifty or more (cumulative) adenomatous colorectal polyps at any age
        • personal history of intra-abdominal or abdominal wall desmoid tumour.
    • An individual whose referral to GHQ was recommended after review of a relative
  • Category 3
    (appointment within 365 calendar days)
    • Colorectal cancer with at least one of the following:
      • Diagnosed between 40-50 years of age
      • personal history of a second Lynch syndrome associated tumour or cancer
      • family history of one or more first or second-degree relatives with a Lynch syndrome-associated tumour or cancer, regardless of the age the cancers were diagnosed
      • ten or more (cumulative) adenomatous colorectal polyps at any age
      • reported family history of polyposis syndrome
      • the patient fulfils or is close to fulfilling the diagnostic criteria for serrated polyposis syndrome (SPS)
      • one or more hamartomatous polyps at any age (includes Peutz-Jeughers polyps, juvenile polyps, Cowden polyps)
      • other personal or family history suggestive of:

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
    • prior history of polyps
    • known details of relevant family history
  • if referral is from a specialist, provide relevant pathology including results of IHC for mismatch repair proteins (and of BRAF testing for tumours with loss of MLH1 and PMS2) (if results are available on Auslab please indicate this on referral). If tumour has loss of MLH1 and PMS2 and patient fulfils other criteria for referral (e.g. SPS), please confirm that BRAF testing has been ordered.
  • 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
  • Reports of prior gastroscopies and colonoscopies and pathology of polyps removed

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.