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MEDICARE FUNDED TESTING FOR BREAST AND OVARIAN CANCER GENES
The Australian Federal government has approved a Medicare rebate item number for BRCA related genetic testing for women with breast or ovarian cancer, and for the testing of a mutation previously identified in a family (in effect from 1 St
November 2017)
Frequently Asked Questions – for Specialists
Q: When should genetic testing for high-risk breast or ovarian cancer genes be considered?
At the discretion of the health professional, genetic testing can be discussed and undertaken during active cancer management or during follow up. However, results will routinely take 8 weeks or more from receipt of sample, so if the result is required for management decisions, timing of testing must be planned accordingly.
Q: What does the test involve?
Testing is usually performed on a routine blood sample (EDTA) and involves screening the full sequence of the genes BRCA1 and BRCA2 along with an additional test for copy number variations. The MBS funding also allows for additional screening of a small number of genes that are much less frequently found as a cause of a high risk of breast cancer ( TP53, PALB2, PTEN, STK11, CDH1) as part of a ‘gene panel’ test. Results will typically take a minimum of 8 weeks to become available, but turn around times will vary between labs.
Q: How do I assess if a patient is eligible for MBS funded testing?
MBS funding is based on an individual being assessed as having at least a 10% chance of carrying a pathogenic mutation in BRCA1 or BRCA2 (i.e. the combined risk of having a mutation in either gene). The probability of a mutation being present varies depending on the age at which breast or ovarian cancer is diagnosed, the specific type of breast or ovarian cancer diagnosed and the number of other family members affected. Other factors might include male breast cancer, individuals diagnosed with bilateral breast cancer, or Ashkenazi Jewish heritage.
The descriptor for the MBS number requires that these factors are assessed using a ‘quantified algorithm’. A number of such validated algorithms are available that vary from straight forward scoring tools, such as the Manchester Score, to more sophisticated programs, such BRCAPro (hosted by Harvard University) or the web-based application BOADICEA (hosted by Cambridge University). The more advanced tools allow all of a patient’s family history to be included and have been shown to the most accurate in predicting mutation probability. More details on these algorithms can be found at:
Manchester Score:
https://www.eviq.org.au/additional-clinical-information-cancer-genetics/3246-manchester-scoring-system-with-guide-to-patho
BRCAPro:
http://bcb.dfci.harvard.edu/bayesmendel/brcapro.php
BOADICEA
http://ccge.medschl.cam.ac.uk/boadicea/
Peter MacCallum Cancer Centre [Medicare funded BRCA testing] I [FAQs for Specialists] Page 1 of 3
Q: What information should I give to the patient prior to obtaining consent?
Patients should be informed of the possibility that a gene mutation may be involved as a cause of their cancer diagnosis and how finding out about this possibility may be helpful for their current and future management, including the specific relevance of the test for their treatment.
They should understand that if a gene mutation is found it may provide important information about future cancer risks and the need for ongoing screening or other interventions to manage the risk. However, it is important to remember that most tests are normal and therefore very detailed discussions regarding risk management for the patient and relatives, prior to testing, are not always required.
The patient should also be aware that the result may provide information of relevance to the wider family. Namely, if a mutation is identified then other relatives may also carry this mutation and be at increased risk of breast and associated cancers. In that situation predictive genetic testing would be available to relatives if they wished to know this information.
If a patient has questions that require either more time or more expertise than you are able to provide, the patient can call or be referred to a specialist Familial Cancer Centre and speak to a genetic counsellor.
Q: What are the insurance implications for cancer patients?
If a cancer patient applies for life cover, critical illness or income protection cover after the gene test is performed then it will need to be disclosed, along with the other information about their cancer diagnosis. This is less likely to have an impact on the cover or terms most patients would be offered over and above the impact of their cancer diagnosis.
Q: Are there insurance implications for the cancer patients’ relatives?
Genetic testing will not affect their ability to obtain health insurance in Australia. Close relatives seeking life cover, critical illness or income protection cover in Australia would need to tell an insurance company about their family history and if a gene mutation has been found (if they are aware of it). If the test result is normal, some insurance companies may take this into consideration to mitigate the unfavourable impact of the family history on the policy.
Further information on the insurance implications of genetic testing can be found here:
http://www.genetics.edu.au/publications-and-resources/facts-sheets/fact-sheet-20-life-insurance-products-and-genetic-testing-in-australia
Q: Do I need to obtain written consent?
Documentation of informed consent is recommended for all genetic testing. Guidelines outlining best practice for physicians ordering genetic testing are published by the:
National Health and Medical Research Council
https://www.nhmrc.gov.au/_files_nhmrc/publications/attachments/e99.pdf
Human Genetics society of Australasia
https://www.hgsa.org.au/resources/hgsa-policies-and-position-statements
National Pathology Accreditation Advisory Council
https://www.health.gov.au/internet/main/publishing.nsf/Content/E688964F88F4FD20CA257BF0001B739D/$File/V0.25%20NAD%20Human%20Genetics.pdf
Peter MacCallum Cancer Centre [Medicare funded BRCA testing] I [FAQs for Specialists] Page 2 of 3
Q: What if a patient meets the MBS criteria but chooses not to have a test?
Genetic testing is always optional. A patient may decline to be tested, ask to have longer to think about testing or be referred to a genetic service if they want, or need, more detailed discussion.
Q: Who will give the patient the result of the genetic test?
The results of genetic tests ordered by specialists outside of the FCC will be provided to the ordering physician only. It is important that you are able to interpret the result and provide or organise the necessary follow-up for the patient, including referral to a familial cancer centre if needed.
Q: What happens if no mutation is identified?
This is the most likely result. The current testing and analysis is very thorough and it is unlikely a mutation has been missed in the genes tested, but no test can completely exclude a genetic contribution to the personal or family history of cancer. If the patient has a significant family history of cancer, they may still require enhanced cancer screening on account of their family history alone and may benefit from referral to a specialist service such as an FCC
Q: What if there is a variant of unknown significance (VUS) identified?
Very occasionally a variant is identified where it is difficult to interpret whether it affects gene function or not. This may occur more often in individuals of non-Caucasian ethnicity. Some variants are assessed to have a low likelihood of being pathogenic (i.e. of disrupting gene function). Some variants may require further evaluation. If a VUS is found it will often be important for the patient to be referred to a specialist service, such as an FCC, where the implications and any further analysis that could be useful can be discussed with the patient.
Q: What happens if a germline mutation is identified?
The patient’s current and future management may be altered, and this can be discussed with them at a subsequent appointment. It will typically be indicated to refer the patient to a service that can provide genetic counselling for further discussion of the implications for the patient and their family, and to facilitate communication of this information to other family members. Genetic counsellors can also assist in referring other family members to clinical genetic service/FCC for further information.
Q: Who should I contact if I have any questions?
If you or your patient have any questions about genetic testing, the implications or results you can call (03 8559 5322) or email the Parkville FCC.
CONTACT
Parkville Familial Cancer Centre
Phone: 03 8559 5322
Fax: 03 8559 5329
Email: [email protected]
Peter MacCallum Cancer Centre [Medicare funded BRCA testing] I [FAQs for Specialists] Page 3 of 3
