Referral to emergency

If any of the following are present or suspected, please refer the patient to the emergency department (via ambulance if necessary) or seek emergent medical advice if in a remote region.

  • nil

Inclusions

  • colorectal carcinoma (CRC) or small bowel carcinoma that is microsatellite unstable (MSI-high) or mismatch repair protein (MMR) deficient on immunohistochemistry, except where there is loss of expression of MLH1 and PMS2, and either hypermethylation of the MLH1 promoter is detected in a CRC or small bowel cancer or the BRAF V600E variant is detected in a CRC
  • CRC or small bowel carcinoma where no tumour testing is possible and has a family history which meets Amsterdam I or II criteria.
  • colorectal cancer and at least one other Lynch Syndrome associated cancer in the same individual with one cancer diagnosed under age 50 years
  • colorectal cancer diagnosed under age 50 years and no knowledge of family history
  • CRC or small bowel carcinoma and one or more of the following:
    • ten or more (cumulative) adenomatous colorectal polyps at any age
    • one or more hamartomatous polyps at any age (includes Peutz-Jeghers and juvenile polyps)
    • family history of a polyposis syndrome
    • personal history of intra-abdominal or abdominal wall desmoid type fibromatosis
    • other personal or family history suggestive of Peutz-Jeghers syndrome (PJS), PTEN hamartoma (Cowden) syndrome or hereditary haemorrhagic telangiectasia (HHT)
  • meet eviQ criteria for Mismatch Repair (MMR) genetic testing
  • meet eviQ criteria for Colorectal Cancer and Polyp panel genetic testing

Exclusions

  • individuals with a personal history of CRC with loss of MLH1 and PMS2 on mismatch repair immunohistochemistry and either hypermethylation of the MLH1 promoter or the BRAF V600E variant is detected in the cancer and there is no other personal or family history suggestive of a familial predisposition to cancer
  • individuals with personal history of CRC with normal mismatch repair immunohistochemistry and no other personal or family history suggestive of a familial predisposition to cancer
  • individuals who have not had a cancer themselves, but a specific causal gene variant HAS been identified in the family - refer to Predictive Genetic Testing for Cancer - Adult and Paediatric CPC
  • individuals who have undergone mainstreamed, research or private genetic testing - refer to Cancer/Tumour Gene Variant on Mainstream, Research or Private Test — Adult and Paediatric CPC 

Triage categories

Category 1 (appointment clinically indicated within 30 days)

  • distant metastatic disease with a short predicted life expectancy, contact will usually be made within 7 days
  • results of genetic testing if offered, will influence local or systemic treatment decisions
  • personal and or family history of cancer with high suspicion of a cancer predisposition and the patient and or their partner is pregnant and review/genetic testing will impact investigation and management in pregnancy. Contact will generally be made within 7 days, usually 2 to 3 days

Category 2 (appointment clinically indicated within 90 days)

  • personal and/or any family history of a genetic cancer predisposition, where a specific causative gene variant has been identified on a genetic test
  • personal history of cancer and is currently on, or about to go onto a palliative care pathway, contact will usually be made within 7 days
  • referral recommended after review of a relative
  • tumour testing has identified a potential germline mutation in a genetic cancer predisposition gene

Category 3 (appointment clinically indicated within 365 days)

  • all other referrals meeting inclusion criteria for the relevant cancer/tumour

For information on referral forms and how to import them, please view general referral information.

Essential referral information

Completion required before first appointment to ensure patients are ready for care. 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.

  • identifies as Aboriginal and/or Torres Strait Islander  
  • relevant social history, including identifying if you feel your patient is from a vulnerable population and/or requires a third party to receive correspondence on their behalf
  • interpreter required
  • as much detail as possible about the patient’s personal history of disease including the following:
    • clear indication of clinical need for urgency.  Has the referral been prompted by a pregnancy or imminently planned pregnancy? Will a genetic test result inform local or systemic treatment decisions?
    • planned time frame of chemotherapy, radiotherapy, or surgery to indicate when genetic test results are required if offered
    • cancer/tumour diagnosis, age at diagnosis and other clinical features
    • details of prognosis in patients with metastatic disease
    • details and results of genetic testing if performed including a copy of the genetic test result
    • relevant histopathology reports and/or imaging results
  • presence or absence of relevant family history with names of affected relatives

Additional information to assist triage categorisation

  • known details of relevant family history (first and second-degree blood relatives) including:
    • date of birth
    • previous names/surnames
    • clinical diagnosis/features and age at diagnosis
    • relation to patient including whether maternal or paternal
  • if the family is known to a Clinical Genetics service in South Australia, if possible, please provide the genetics file number and names of relative/s seen
  • if the family are known to another genetic service, the name of the service, and family reference number if available

Clinical management advice

The Adult Genetics Unit (AGU) provides services through a network of clinics at the Queen Elizabeth Hospital, Royal Adelaide Hospital, Flinders Medical Centre, the Lyell McEwin Hospital, Women’s and Children’s Hospital and telehealth. All referrals should be addressed to the AGU.

The offer of an appointment by clinical genetics does not guarantee that a publicly funded genetic test will be offered.

If the patient has a limited life expectancy, arrange collection of 2 x 4ml of blood in ethylenediamine tetraacetic acid (EDTA); the request form should ask for “deoxyribonucleic acid (DNA) storage” and include a brief note giving the personal and family history. Send to Molecular Pathology, SA Pathology at Frome Road, Adelaide, 5000.

Patients may be asked to provide detailed written family information using electronic correspondence, or paper-based correspondence. This may be followed by a telephone consultation with a genetic counsellor or allied health assistant prior to the appointment.

Consent forms may be provided for relatives allowing permission to access information about their health.

Clinical resources

Consumer resources