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Untested blood relative of a person with an identified mutation in a cancer predisposition gene

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
  • In order to offer predictive testing, the patient needs to be able to provide sufficient information for GHQ to obtain details of the familial mutation and where possible, familial control DNA for testing. This information may include one or more of the following: copies of a relative’s genetic test report, family letters (a de-identified family information letter provided by a genetics service), names and DOB of relevant family members and details of the genetic services where genetic testing has been done. This information should not be included with the referral but will subsequently be requested by GHQ.
  • List of cancer predisposition genes for which GHQ offers predictive (presymptomatic) testing when clinically appropriate after genetic counselling when a mutation (pathogenic/class 5 or likely pathogenic/class 4 variant) has been identified in a relative (dominant conditions):
    • AIP, APC, BAP1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, DICER1, EPCAM, MEN1, MLH1, MSH2, MSH6, PALB2, POLD1, POLE, PMS2, PTEN, RAD51C, RAD51D, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHC, SDHD, SMAD4, STK11, TP53, VHL
  • List of cancer predisposition genes for which GHQ offers predictive (presymptomatic) testing to patients at risk of inheriting mutations from both parents (recessive conditions)
    • MUTYH, NTHL1
  • GHQ offers publicly funded carrier genetic testing to the partner of an individual with homozygous or compound heterozygous MUTYH mutations if the couple has children.
  • A case by case decision will be made about the clinical utility of offering predictive testing for genes/variants not listed above. If genetic testing is not offered, the patient will be offered advice about cancer risks and recommended risk management strategies based on their family history.
  • Predictive genetic testing is offered to children and adolescents when if the results of genetic testing will change management i.e. for conditions where surveillance and/or risk reducing surgery is recommended in childhood. (see eviQ Risk management guidelines
  • When a child has been referred for predictive testing for a gene mutation associated with adult onset cancer risks, the referring doctor and parents will be provided information about appropriate age of re-referral
  • Presymptomatic testing will not be offered for the following:
    • variant of uncertain significance (unclassified or class 3 variant) 
    • variant in a gene of limited or unknown clinical utility (e.g. MTHFR)
    • non-confirmed variant/s identified using non-NATA accredited direct to consumer “SNP” based technology
  • GHQ may provide families with partially completed referral proformas to facilitate referral. These referrals need to be completed IN FULL by the referring doctor.
  • Presymptomatic (predictive) gene testing should only be offered by a geneticist or genetic counsellor following genetic counselling and written informed consent (see HGSA guidelines).
  • Patients who are referred for predictive gene testing where GHQ is unable to offer a test due to any of the reasons listed above will be re-allocated to the Category 3 waitlist from Category 2.
  • Patients initially allocated to a Category 3 waitlist who are subsequently identified as part of a family with a known gene mutation may be reallocated to Category 2.

Clinical resources

Patient resources

Minimum Referral Criteria

  • Category 1
    (appointment within 30 calendar days)
    • A cancer affected patient for whom the results will change local or systemic management
    • A patient with a limited life expectancy who has children
    • Where the results will change the nature of imminently planned non-cancer surgery (e.g. hysterectomy)
    • The patient or their partner is pregnant and the results of testing will inform management of the pregnancy.
  • Category 2
    (appointment within 90 calendar days)
    • All patients referred for predictive testing for a GHQ accepted gene/variant (see Other useful information) in a patient of an appropriate age who do not fulfil criteria for Category 1
    • The child of a parent with mosaicism in a cancer predisposition gene (common examples would include NF2, RB1 and VHL)
    • Parents of a child in whom a copy number variant involving a cancer predisposition gene has been identified on chromosome microarray.
  • Category 3
    (appointment within 365 calendar days)
    • Patients referred with a family history of an identified mutation/variant in a gene of low or unknown clinical utility or with a family history of an unclassified variant (see below).

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 cancer (if relevant) including the following:
    • type/s of cancer
    • age at diagnosis
    • treatment including outcome or planned treatment
    • relevant pathology (if results are available on Auslab please indicate this on referral)
  • Relevant past medical history including the following
    • surveillance to date
    • relevant surgery (e.g. hysterectomy) with attached histopathology if available
  • Name of gene in which mutation identified and/or name of familial cancer predisposition syndrome identified in family

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
  • Attach the “family information letter” if available
  • To preserve confidentiality, do NOT include details or attach reports which identify another family member with the referral (see below)

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.