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Gastrointestinal polyps (not cancer) genetics - Affected individual from a family in whom a mutation in a cancer predisposition gene has NOT been identified

ADULT PAEDIATRIC

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.


  • 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 (See criteria Lynch syndrome, APC, MUTYH, STK11, JPS, PTEN).
  • There may be some clinical trials that may be relevant for the patient.  Details can be found in the GHQ website.
  • There is currently no clinical genetic testing available to confirm a diagnosis of SPS.
  • 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.
  • 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.

Clinical resources

Patient resources

Minimum Referral Criteria

  • Category 1
    (appointment within 30 calendar days)
    • No Category 1 criteria
  • Category 2
    (appointment within 90 calendar days)
    • Numerous gastric fundic gland polyps in the absence of prolonged treatment with a proton pump inhibitor
    • Ten or more (cumulative) adenomatous colorectal polyps by age 30 years
    • Twenty or more (cumulative) adenomatous colorectal polyps at any age
    • A patient who fulfils Category 3 criteria and has a limited life expectancy due to advanced age and/or co-morbidities
  • Category 3
    (appointment within 365 calendar days)
    • Polyp testing detecting 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 polyp)
    • Ten or more (cumulative) adenomatous colorectal polyps at any age and consanguineous parents
    • One or more hamartomatous polyps at any age (includes Peutz-Jeughers polyps, juvenile polyps, Cowden polyps).
    • Patients that fulfil or are close to fulfilling the diagnostic criteria for serrated polyposis syndrome (SPS)

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 polyps including the following:
    • type/s of polyps
    • age at diagnosis
    • treatment including outcome
    • relevant pathology including results of any genetic testing if performed (if results are available on Auslab please indicate this on referral)
    • known details of relevant family history

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.