Family history: Individual with a family history of cancer 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 (Untested blood relative of a person with an identified mutation in a cancer predisposition gene) condition within the Genetics CPC
    • With rare exceptions, publicly funded genetic testing is NOT offered to individuals that are not personally affected by cancer (even if a family history of cancer is documented), when a mutation in a cancer predisposition gene has NOT first been identified in an affected family member
    • Guidelines about prescribing the oral contraceptive pill (OCP) or hormone replacement therapy (HRT) for women with a family history of breast cancer can be found on the eviQ website
    • 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
    • Women aged 30-50 years who are at high lifetime risk of breast cancer and qualify for the Medicare rebate for breast MRI should be referred to a breast surgeon or familial breast cancer clinic at the same time as genetics referral
    • If the patient has any living relatives with a personal history of cancer which meets GHQ referral guidelines, the relative could discuss a genetics referral with their treating doctor
    • 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

    Clinical resources

    Patient resources

Minimum Referral Criteria
Category 1
(appointment within 30 calendar days)
Category 2
(appointment within 90 calendar days)
  • Patients where the outcome of genetic counselling will influence planned surgery (e.g. whether or not bilateral salpingo-oophorectomy should be undertaken at the same time as a planned hysterectomy)
  • First or second degree relative of a patient with a CLINICAL diagnosis of a cancer predisposition syndrome in whom genetic testing has not been undertaken or was uninformative
  • Next of kin of a deceased individual who is being referred to provide consent after genetic counselling for gene testing on stored DNA and/or tissue if their referral was recommended after review of a relative
Category 3
(appointment within 365 calendar days)
  • A patient with a family history of breast and/or ovarian cancer with at least one of the following:
    • fits in the or high (substantially increased) lifetime risk category according to iPrevent, Tyrer-Cuzick or CanRisk
    • Two 1 degree or 2 degree relatives on one side of the family diagnosed with breast or ovarian cancer plus one or more of the following features on the same side of the family:
      • additional 1 degree or 2 degree relative(s) with breast or ovarian cancer, breast cancer diagnosed before the age of 40, bilateral breast cancer, breast and ovarian cancer in the same women, Jewish ancestry, breast cancer in a male relative
    • first degree relative with ovarian cancer
  • A patient with a family history of colorectal and/or endometrial cancer with at least one of the following:
    • high lifetime risk of developing colorectal cancer according to the NHMRC Guidelines
    • family history of three or more first or second-degree relatives with a Lynch syndrome-associated tumour or cancer, regardless of the patient's age the cancers were diagnosed (further information can be found on the GHQ website)
    • reported family history of polyposis syndrome
    • family history of two or more first or second-degree relatives with colorectal or endometrial cancer, at least one of the cancers diagnosed at age < 50 years.
  • A patient with a reported family history of a polyposis syndrome
  • A patient with a family history of gastric cancer with at least one of the following:
    • two or more first or second-degree relatives from the same side of the family with gastric cancer, at least one diagnosed at age < 50 years
    • three or more first or second -degree relatives from the same side of the family with gastric cancer, diagnosed at any age
    • family history of diffuse gastric cancer and cleft lip and/or palatefamily history of GIST and paraganglioma or phaeochromocytoma
  • A patient with a family history of pancreatic cancer one of the following:
    • at least two first degree relatives with pancreatic cancer
    • three or more relatives with pancreatic cancer, at least one of whom is a first degree relative.
  • Next of kin of a deceased individual who is being referred to provide consent after genetic counselling for gene testing on stored DNA and/or tissue.

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 and family history including the following:
    • surveillance to date and the results of any related investigations (e.g. breast biopsies, polyps)
    • risk reducing surgery already undertaken
    • details of family history (type of cancer, age of diagnosis, relation to patient including whether maternal or paternal).
    • For patients with a family history of breast cancer, referral must include sufficient details of family history to confirm eligibility for referral and/or a printout of an iPrevent assessment attached to the referral
  • Confirmation of OOHC (where appropriate) and contact details to send correspondence for OOHC

3. Additional referral information Useful for processing the referral

  • If the family is known to GHQ, include the GHQ reference number (GF) if known
  • If the family are known to another genetic service and it is known, the name of the service and family reference number
  • Indicate if genetic testing has been undertaken in an affected family member and the results were uninformative or unknown to the referred patient.

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: 22 December 2021

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