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 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
    • 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 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
  • Fifty 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
  • Polyp testing detecting abnormal MMR immunohistochemistry or microsatellite instability (MSI) (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)
  • An individual whose referral to GHQ was recommended after review of a relative
Category 3
(appointment within 365 calendar days)
  • Ten or more (cumulative) adenomatous colorectal polyps at any age
  • 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)

Please insert the below information and minimum referral criteria into referral

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
    • cumulative total of adenomatous colorectal polyps
    • age at diagnosis
    • treatment including outcome
    • known details of relevant family history
  • Relevant pathology including results of any genetic testing and IHC if performed (if results are available on Auslab please indicate this on referral)

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.)

  • 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.

    • 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.

Last updated: 8 July 2021

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