Pretest education


For booked patients only.

Invitae hereditary cancer pretest

FAQ videos


What does “variant detected“ or “positive result“ mean?


What does “no variant detected“ or “negative result“ mean?


Why does family history matter?


What is inherited cancer susceptibility?


Resources


Should I have a test?


If you have a personal or family history of breast and/or ovarian cancer, should you get screened for a BRCA mutation?


Patients with an early diagnosis of breast or ovarian cancer and/or a strong family history of breast or ovarian cancer should consider BRCA testing.  While mutations in the BRCA genes are the most common causes of inherited breast and ovarian cancer there are also other genes which are involved in these cancers.  You should discuss your testing options with your healthcare provider.



Should you undergo BRCA screening if you have no known family members with cancer?


Recent studies show that up to 50% of women with BRCA mutations have no substantial family history of breast or ovarian cancer.  The decision to screen for BRCA mutations is ultimately yours.  Some factors to consider are how the results may impact your medical care and insurance, and how the results may impact your family members.



If you test positive what family members should be tested?


A positive test means you have almost certainly inherited the mutation from one of your parents although new mutations can very rarely occur.  Your first degree relatives (parents, siblings, children) have a 50% chance of having the same mutation.  Your second and third degree relatives are also at risk.  Please consider the impact a positive test result might have on your family prior to undertaking the test.



What are the benefits of BRCA testing in men with a personal or family history of cancer?


Similar to women, BRCA testing identifies men with an elevated risk of developing certain cancers, notably breast and prostate, compared to non-carriers.  Carrier fathers also have a 50% chance of passing BRCA mutations to their children.


How it works


What are BRCA genes?


We all have a number of genes, called tumour suppressor genes, that are involved in regulating cell growth and repairing cell damage.  These genes form a natural defence system against cancer by ensuring our cells develop normally and are continuously maintained.  BRCA1 and BRCA2 are part of that system.

Mutated BRCA genes lose their ability to repair cell damage.  Woman who inherit a BRCA mutation have a higher risk of developing breast and ovarian cancer [80% and 40% respectively).  Men who inherit a BRCA mutation have a higher risk of breast and prostate cancer.



How much does the test cost?


Consultation Administration Logistics and Shipping fee: $NZD $395

Test fee: $USD 250.

Please note that testing is publicly funded for NZ patients if they meet eligibility criteria set by the New Zealand Genetic Health Service. Please ask your healthcare provider whether you may qualify for funded testing.



How long does the result take and how are results provided?


Turn around time is approximately 3 weeks.  Invitae sends the result to Sequenca Genetics, who will forward the report to the requesting health provider.



What does testing involve?


Your health provider will refer you to Sequenca Genetics. We will go through pretest education and you then provide a saliva sample.

The sample is sent to Invitae in San Francisco, California. Invitae is CLIA certified and CAP accredited.


Possible results


If you test positive for a BRCA mutation what should you do?


Studies show that a woman with a harmful (pathogenic) BRCA mutation has a lifetime risk of up to 80% of developing breast cancer and up to 40% of developing ovarian cancer.  A man has lifetime risk of up to 5% of developing breast cancer and up to 40% of developing prostate cancer.

All individuals who test positive should discuss their personal and family history with a qualified healthcare provider or genetic counsellor so that appropriate screening and treatment options, and options for prophylactic surgeries can be planned.



If you test positive does that mean you have cancer?


A positive test result means that an individual carries a pathogenic mutation which increases the risk of breast and ovarian cancer in woman, and breast and prostate cancer in men.  However a positive result does not mean that you have cancer or that you will definitely develop cancer.  In fact some people who carry a pathogenic mutation may never develop cancer.



If you test positive should you be tested for other forms of cancer?


If your result is positive you should discuss this with your healthcare provider and a genetic counsellor as interpretation depends on your personal and family history.  Further evaluation and testing may be recommended for you and first degree relatives.



What does a negative test mean?


A negative test can sometimes be more difficult to understand than a positive test.

If you are the first, second or third degree relative of a person known to carry a pathogenic mutation, a negative test means that you do not carry the mutation.  You have the same risk of breast and ovarian cancer as the general population.  Your children cannot inherit this particular mutation from you.

A negative result is less clear if you or any close blood relative has a personal or family history that suggests a BRCA mutation.  Possible causes for this include:

  • a false-negative test for a known mutation which, although rare, can occur
  • an as yet unknown pathogenic BRCA mutation
  • a pathogenic mutation in another gene

If you are considering testing for a BRCA mutation you may want to discuss these potential uncertainties with your healthcare provider or a genetic counsellor.



Can your test result be inconclusive?


Yes. This result is called a variant of uncertain significance [VUS]. This is a genetic mutation whose effect on cancer risk is not yet well established due to limited and/or conflicting evidence in the medical literature.  As scientists learn more a VUS may be reclassified into a benign or pathogenic which may impact you and your family in the future. If you are considering testing for a BRCA mutation you should consider the effect of a VUS on you and your family.  You may want to discuss this potential uncertainty with your healthcare provider or a genetic counsellor.


Provider information


Where is testing performed?


Testing is performed at Invitae in San Francisco, California. Invitae is CLIA certified and CAP accredited.



What is the analytical sensitivity and specificity?


> 99.99%



What does Sequenca Genetics provide?


We provide end to end management of the test including provision of test kits, FedEx packaging and documentation, sample transportation and tracking, result receipt and provision, and direct liaison with Invitae as required.



Why should my patients pay for the test?


They might not have to.  Genetic counselling and BRCA testing for New Zealand patients is publicly funded provided they meet eligibility criteria set down by the New Zealand Genetic Health Service.  However you may have a patient in whom you think testing is indicated but who does not meet eligibility criteria for funded testing.  You or your patient may wish to know their BRCA status.



How much does the test cost?


Consultation Administration Logistics and Shipping fee: $NZD $395

Test fee: $USD 250


Enquire about a test


Order test kits from info@sequenca.nz. We provide all materials including instructions, shipper box, test kits, FedEx transportation pack and completed documentation.

Make sure consent and requisition forms are downloaded and completed. Please scan (info@sequenca.nz) or fax (09 524 7669) completed forms to Sequenca Genetics for our data entry before packaging and sending test.

Ideally have your patient complete the test at your rooms at the time of consultation. If this is not possible (smoking, eating or chewing gum in last 30 minutes), provide your patient with a kit and ask them to return to your rooms when completed.

Note: Kits will only be provided to registered medical practitioners and genetic counsellors.


Sequenca Genetics will track the sample and monitor the result,
which we will provide to you in approximately 3 weeks


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