Ordering BRCA Gene Tests

Ordering BRCA Gene Tests 

A guide for Specialists wanting to order BRCA testing under Medicare
While genetic testing may be “just” a blood test, it isn’t a “simple” blood test.  To ensure correct guidelines are followed, see the Policy Directive on Genetic Testing and use the sample forms and guidelines below. Of course, you can refer your patient to us and we will do all the work for you!

1. Confirm eligibility for Medicare Item number
a) Item number 73297:

Pathogenic mutation detected in BRCA1, BRCA2, STK11, PTEN, CDH1, PALB2 and/or TP53 in a biological (blood) relative

b) Item number 73296:

Documented breast or ovarian cancer AND at least one of the following:

    • Triple negative breast cancer diagnosed <30 years of age
    • Invasive non-mucinous ovarian cancer diagnosed <60 years of age
    • Jewish heritage
    • A Family history of cancer consistent with a 10% pretest likelihood of a mutation

(Confirm pathology of breast, ovarian, prostate and/or pancreatic cancers and age of diagnosis via death certificate or pathology report. Patients can download our Family History Questionnaire and bring the completed form with them for discussion)

Validated models to calculate 10% likelihood:
–   Manchester Score (easiest to use)
–   BRCAPro
–   BOADICEA (best for small or male heavy pedigrees)

2. Obtain informed consent Patient to sign consent form after discussion:

  • Implication of mutation vs variant vs uninformative result
    For each gene on panel (BRCA1, BRCA2 and any others such as STK11, PTEN, PABL2 and TP53)
  • Need to discuss new cancer risk eg ovarian, pancreatic
  • Limitation of test (sensitivity, specificity and future research)
  • Stress “no mutation” ≠ “no risk”
  • Effect on income/disability insurance for self and relatives
  • Next of kin contact and plan for cascade testing if mutation positive
  • Information on how DNA will be stored, used in research, on-sold by particular lab

3. Order test

  • Instructions for collector (2 tubes, 10mins apart, pt to sign)
  • Ensure collection centre OK with accepting genetic test requests
  • Provide Request for test for lab
  • Ensure Lab eligible (eg Australian)
  • Provide proof of consent, eligibility for item number
  • Specify clinical urgency if treatment focused
  • Provide genetic mutation report from relative if predictive testing

4. Give result to patient and discuss risk management

  • Ensure understanding of implications for self and family (use Cancer Institute’s eviQ guidelines)
  • Notify other treating doctors, with patient’s permission
  • If mutation detected:
    Refer for risk management (eg RRSO / RRM or Breast MRI screening)
    Facilitate and/or organise cascade testing of at-risk relatives
    (see example of “info for rels”)
  • If variant detected or uninformative
    Ensure patient (and other doctors) aware of specific meaning
    Risk management based on family history
  • Provide information on research and support groups

Posted in: For Drs