How to Be Tested For a BRCA Gene Mutation

Cancer Awareness Ribbons in Multiple Colours

Transcript of Podcast Episode 3

Welcome to the BRCA gene mutation and cancer awareness podcast. I am Christina Henry of Midlifestylist.com. I am a Registered Nurse with a BRCA2 gene mutation. My podcast will raise awareness of BRCA 1 and 2 gene mutations and their link to an increased cancer risk. BRCA gene mutations affect males and females equally, but there isn’t a lot of awareness in the community of the cancers that male carriers are at risk of. My podcast aims to change that. I will also discuss other topics of interest such as genetic counseling and testing, cancer screening and prophylactic surgery. If you would like to know more about BRCA 1 and 2 gene mutations, this podcast is for you. Thanks for joining me.

Welcome to episode 3:  How to be tested for BRCA gene mutation

In the last episode I discussed how I came to be aware of the BRCA2 gene mutation in my family, and how I came to be tested.  I am now going to explain how to have genetic testing if you suspect that you have a genetic mutation in your family.

The first step is to look at your family’s health history.  In particular, ask yourself the following questions:

  • Have any of your blood relatives had cancer?
  • What types of cancer were they?
  • How old were your relatives when they developed cancer?

Are You at High Risk of a BRCA Gene Mutation?

A person is considered high risk of having a BRCA mutation if they have a family history of:

  • Breast cancer diagnosed before the age of 50;
  • Male breast cancer at any age;
  • Multiple relatives on the same side of the family with breast cancer, particularly first degree relatives (mother, sister, daughter);
  • Multiple breast cancers in the same woman, meaning breast cancer developing in both breasts over time or at the same time;
  • Both breast and ovarian cancer in the same woman;
  • A history of ovarian cancer in the woman’s family, especially if a first degree relative;
  • Ashkenazi Jewish heritage (they have a 2.5% chance of inheriting a BRCA mutation compared to 0.25% in the general population).

I have written an article on Midlifestylist.com called Know Your Family and Personal Health History.  I included a free health history form with a family tree so that you can get an idea of how to document your family’s health history.  It is important to look at both the males and the females as a BRCA gene mutation can be passed down through either line.

Genetic Testing at a Family Cancer Clinic

Genetic testing is free in Australia if a genetic mutation has been found in your family.  You will need your relative’s name and where they were tested.  You may have been given a copy of your relative’s results, or a letter from their genetic counsellor saying what genetic mutation they have.

Free genetic testing may be available if there is a strong family history of breast or ovarian cancer.  The genetic counsellor has to estimate that you have at least a 10% – 15% chance of having a faulty BRCA 1 or 2 gene in the family.  A relative that has had breast or ovarian cancer would need to be willing to have genetic testing.

Publicly funded testing is only available through a Family Cancer Clinic in Australia, not via a GP.  Family Cancer Clinics are based throughout Australia and are covered by Medicare.  Your GP will need to refer you to the clinic for Genetic Counselling first.

Referral for genetic testing at the Family Cancer Clinic will depend on whether the Genetic Counsellor assesses you and feels that there is a strong suspicion of a genetic mutation based on your family history. If you elect to pay privately it costs approximately $2000, which is not covered by Medicare or private insurance.

Private Genetic Counselling

Genetic Counsellors are also available privately in some cities.  My Genetic Counsellor is a medical consultant that I saw privately.  It did cost me to see him, but my actual test was free.  He saw my sons privately as well, and tested them free of charge.  I elected to see a private Genetic Counsellor because I had seen him previously and knew him professionally (I am a nurse).

Genetic testing is done via a blood test.  My sons and I had two separate blood tests 15 minutes apart.  The results were available after a few weeks.

Why You Should Avoid Do-It-Yourself Genetic Tests

I have read about do-it-yourself genetic tests available by mail order.  I strongly recommend that you don’t go down this route for a couple of different reasons.  First they may give you a false positive or a false negative.  It’s more likely to be a false positive which could lead to an anxious reaction for nothing.  

Secondly, having the discussion with the genetic counsellor is extremely important.  They are able to explain what your risks are, based on your family history. It is not the same for everyone.  Some families have a high number of prostate cancer cases, but a low number of breast cancer cases.  That is the case in my family.  

The implications of a diagnosis of a BRCA 1 or 2 gene mutation need to be carefully considered before you have testing.  This can only be explained by a medical professional trained in this field.  Please don’t take any shortcuts – I strongly advise you to get a referral to a Genetic Counsellor for these reasons.

Further Information

If you would like to read further about this, I have a link on Midlifestylist to Pink Hope.  They have an Assess Your Risk Tool on their website that can help you to work out whether you need to see a genetic counsellor or not.

I will be talking about what to do if you test positive for a BRCA 1 or 2 gene mutation in my next episode.  For further information about this and cancer awareness, go to my website Midlifestylist.com and search BRCA.  You can also read about my personal journey with BRCA2 and prophylactic surgery on the website.

Thank you for listening.  Please subscribe to the podcast so that you don’t miss an episode.  You can contact me via Midlifestylist.com 

Outro:

Do you want to learn more about BRCA gene mutations and cancer awareness? Find me at Midlifestylist.com where you can read about this and living a healthy lifestyle. Please subscribe to the podcast so that you don’t miss an episode. If there is a topic you would like me to talk about you can contact me via Midlifestylist.com. Thank you for listening.

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