Colorectal or small bowel cancer 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 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 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 days is desirable

Colorectal cancer with at least one of the following:
- 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:
  - Peutz-Jeghers syndrome
  - Cowden syndrome

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 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.
Patient 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.

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
- 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
- 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
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.

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