Colorectal or small bowel cancer (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 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 genetic testing or review

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

  • 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 days is desirable

  • Small bowel cancer fulfilling the Category 3 criteria for colorectal cancer
  • Colorectal cancer with at least one of the following:
    • diagnosed at age < 40 years
    • Stage IV disease (and fulfil criteria for Category 3)
    • A patient who fulfils Category 3 criteria and has a limited life expectancy due to advanced age and/or co-morbidities
    • features suggestive of Familial Adenomatous Polyposis (FAP):
      • ten or more (cumulative) adenomatous colorectal polyps by age 30 years
      • twenty or more (cumulative) adenomatous colorectal polyps at any age
      • personal history of intra-abdominal or abdominal wall desmoid tumour

Category 3

Appointment within 365 days is desirable

  • Colorectal cancer with at least one of the following:
    • 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)
    • personal history of a second Lynch syndrome associated tumour or cancer (Link to GHQ website)
    • 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:

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 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 (See criteria Lynch syndrome, APC, MUTYH, STK11).
  • Patients will be asked to provide detailed family information either during a telephone consultation (if urgent) or via a family history questionnaire (Cat 3). One or more Consent to Release information forms may be provided to forward to family members to obtain their consent to confirm details of the reported family history.
  • 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.

Referral requirements

A referral may be rejected without the following 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
    • 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.
    • prior history of polyps
    • known details of relevant family history

Additional useful 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

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.

  • 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
  • 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
  • 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
  • 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
  • Full name
  • Full address
  • Contact details – telephone, fax, email
  • Provider number
  • Date of referral
  • Signature
  • 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.)
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