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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 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.
  • GHQ will facilitate self-funded BRCA1 and BRCA2 gene testing for patients with a family history of breast and/or ovarian cancer who do not qualify for publicly funded gene testing and wish to pursue this option after genetic counselling.
  • 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 asked to provide detailed family information either during a telephone consultation (if urgent) or via a family history questionnaire (Cat 3). Failure to return the family history questionnaire prior to the appointment may result in removal of the patient from the waitlist.
  • 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.
  • 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 resources

Patient resources

Minimum Referral Criteria

  • Category 1
    (appointment within 30 calendar days)
    • No Category 1 criteria
  • 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
  • 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:
      • Could be at potentially high risk of developing either breast or ovarian cancer according to the Cancer Australia Guidelines
      • fits in the high lifetime risk of breast cancer category according to FRA-BOC
      • fulfils criteria for the Medicare rebate for breast MRI
      • fits in the moderate (somewhat increased) or high (substantially increased) lifetime risk category according to iPrevent
      • have been referred by a specialist surgeon
      • first or second degree relative with ovarian cancer.
    • A patient with a family history of colorectal and/or endometrial cancer with at least one of the following:
      • moderate or 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 palate
      • family history of GIST and paraganglioma or phaeochromocytoma.
    • 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.

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 

 

3. Additional referral information Useful for processing the referral

  • If the family is known to GHQ, include the GHQ reference number (GF) if known 
  • Printout from iPrevent assessment (if available)
  • 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.)
  • 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.