Breast cancer genetics (A/P-AFF)

Individual from a family in whom a mutation in a cancer predisposition gene has NOT been identified (Adult and Paediatric Conditions in AFFECTED Patients)

Emergency department referrals

All urgent cases must be discussed with the on call Surgical Registrar to obtain appropriate prioritisation and treatment. Contact through:

Urgent cases accepted via phone must be accompanied with a written referral and a copy faxed immediately to the Central Patient Intake Unit: 1300 364 952.

Does your patient wish to be referred?

Minimum referral criteria

Does your patient meet the minimum referral criteria?

Category 1

Appointment within 30 days is desirable

Breast cancer with at least one of the following:
- distant (outside loco-regional areas) metastatic triple negative disease
- distant (outside loco-regional areas) metastatic disease with a short-predicted life expectancy
- results of genetic testing (if offered) will influence systemic treatment considerations
- Results of Genetic Testing (if offered) will influence local treatment considerations in a patient aged < 60 years
- age ≤ 40 years and not completed local treatment for breast cancer
- personal and/or family history of Li Fraumeni associated cancer (other than breast cancer) and could be considered for adjuvant radiation

Category 2

Appointment within 90 days is desirable

An Individual whose referral to GHQ was recommended after a review of a relative
Tumour testing has identified a potential germline mutation in a familial cancer predisposition gene
Breast cancer with at least one of the following:
- a patient who has a limited life expectancy due to advanced age and/or co-morbidities
- inflammatory with recent active disease (e.g. within the last 3 years)
- triple negative (TNBC) confined to loco-regional areas with recent active disease (e.g. within the last 3 years)
- distant (outside loco-regional areas) ER+/PR+ and/or HER2+ metastatic disease

Category 3

Appointment within 365 days is desirable

Breast cancer that does not meet Category 1 or 2 criteria

If your patient does not meet the minimum referral criteria

Consider other treatment pathways or an alternative diagnosis.

If you still need to refer your patient:

Please explain why (e.g. warning signs or symptoms, clinical modifiers, uncertain about diagnosis, etc.)
Please note that your referral may not be accepted or may be redirected to another service

Other important information for referring practitioners

Not an exhaustive list

The offer of an appointment by Genetic Health Queensland (GHQ) does NOT guarantee that the patient will be offered a publicly funded gene test.
Providing information about the timeframe for which genetic consultation and testing (if offered) is required, to assist in ensuring the referral is appropriately prioritised to inform treatment decisions.
Due to the lack of evidence for clinical benefit for bilateral mastectomy in women with unilateral breast cancer aged >60 years regardless of genetic test results, local treatment decisions will only be considered justification for triage as a Category 1 for this age group if there is a personal/family history suggestive of Li Fraumeni syndrome.
Referral for genetic assessment and counselling is recommended if:
- breast cancer diagnosed at age < 40 years
- triple negative breast cancer (TNBC) diagnosed at age ≤ 50 years (TNBC: oestrogen, progesterone and HER2 receptor negative)
- TNBC at any age AND a personal history of another primary breast cancer
- TNBC at any age AND a first or second degree relative with breast cancer
- lobular breast cancer AND a family history of lobular breast or diffuse-type gastric cancer or cleft lip/palate
- personal history of two primary breast cancers where the first occurred ≤ 50 years
- personal history of breast and ovarian cancer
- male breast cancer at any age
- Jewish ancestry
- breast cancer and a personal or family history suggestive of:
  - Peutz-Jeghers syndrome
  - Cowden syndrome (also refer to GHQ website for details regarding characteristic features)
  - Li Fraumeni syndrome
  - Neurofibromatosis type 1 (NF1)
- reported family history of ovarian cancer
- a Manchester Score of ≥ 15
Tumour testing has identified a potential germline mutation in a familial cancer predisposition gene.
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.
If the patient has undergone mainstreamed and/or private genetic testing refer to the Mainstreamed or private testing condition
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.
If at the time of pre-clinic contact assessment, it is established that the reason for clinical urgency detailed in the referral is no longer valid, the triage category will be amended accordingly.
Patient 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 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.

Referral requirements

A referral may be rejected without the following information.

Essential referral information

As much detail as possible about the patient’s personal history of cancer including the following:
- type/s of cancer
- age at diagnosis
- treatment (completed and planned), including planned time frame of radiation and surgery
- details of prognosis in patients with metastatic disease
- relevant pathology (if results are available on Auslab please indicate this on referral)
- clear indication of clinical indication for urgency (see above)
- known details of relevant family history
- time by which genetic tests results required (if offered) to inform local or systemic treatment decisions

Relevant pathology (if results are available on Auslab please indicates this on referral)
Confirmation of OOHC (where appropriate) and contact details to send correspondence for OOHC

Additional useful information (useful for processing the referral)

Ethnicity of the patient (particularly Jewish or Dutch ancestry)
If the family is known to GHQ, include the GHQ reference number (GF) if known

Request

General referral information/Standard information (Appendix 2, Consultation overview)
Notes
- 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.

Out of catchment

Metro North Health is responsible for providing public health services to the people who reside within its boundaries. Special consideration is made for patients requiring tertiary care or services that are not provided by their local Hospital and Health Service. If your patient lives outside the Metro North Health area and you wish to refer them to one of our services, inclusion of information regarding their particular medical and social factors will assist with the triaging of your referral.

Clinical Modifiers (where relevant)

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

Reason for Referral (essential)

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 Information (essential)

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