How to Test BRCA1 and BRCA2 Genes

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1Qualifying for The Test

2Proceeding With The Test

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BRCA1 and BRCA2 mutations run in families, and are linked to a heightened risk of both breast and ovarian cancer. Note that 0.2% of breast and ovarian cancer in the United States are linked to a BRCA mutation; it is for this reason that screening (i.e. testing for the presence of these gene mutations) is not available to the general population, and is only offered to select people with a high risk history. If you have a personal or family history of these types of cancers, speak to your doctor to see if you are eligible for BRCA1 and BRCA2 testing. If you are eligible, you will also need to see a genetic counsellor for guidance as you undergo the testing procedure, which involves a simple blood test followed by DNA analysis.

Steps

Part 1

Part 1 of 2:

Qualifying for The Test

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   Determine whether you are eligible for BRCA1 and BRCA2 testing. If you have a first degree family member (a parent, a sibling, or a child) with breast cancer before age 50 or ovarian cancer, who has tested positive for either BRCA1 or BRCA2, you are eligible for genetic testing. Both BRCA1 and BRCA2 are genes that can be passed on from parents to their children.

   • Testing positive for either one carries a heightened risk of developing breast and/or ovarian cancer during your lifetime.
2. 
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   Tell your doctor if you had breast cancer before age 50 or ovarian cancer. If you have a personal history of breast cancer before age 50, or ovarian cancer at any age, you are also eligible for genetic testing. The purpose of genetic testing in this case is to determine your risk of developing cancer again down the road (as the risk may be heightened if you test positive for the mutation), and also to provide information that may assist your children in making decisions about their own healthcare.

   • If you test positive for a BRCA1 or BRCA2 mutation, your children will also be eligible for genetic testing as the mutation may have been passed onto them genetically.
   • Children are not eligible for testing without a positive result in their parent to first confirm that the mutation is indeed present (and that the breast cancer or ovarian cancer is not related to other factors or to random chance).
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3. 
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   Take note if you or a family member has had "triple negative" breast cancer. If you or an first degree family member has "triple negative" (negative for estrogen receptors, progesterone receptors, and HER2) breast cancer before the age of 60, the person who had the cancer is eligible for genetic testing. Again, the person with the cancer must test positive for the genetic mutation before any other family members are eligible for testing. This is to ensure that the mutation is present, before investing the time and money in testing relatives.
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Part 2

Part 2 of 2:

Proceeding With The Test

1. 
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   Seek pre-test genetic counselling. Prior to receiving the blood test, it is mandatory to receive pre-test genetic counselling. Because the implications of testing positive can be life-changing, you will need to talk through all of the possible outcomes with the genetic counsellor, and discuss a plan of action as to what you will do and how you will move forward once you do find out the results.

   • While a negative result can provide some measure of reassurance, it does not eliminate the possibility of developing these cancers. Rather, it means that your risk is the same as the general population (11% risk for breast cancer in your lifetime and 1.3% risk for ovarian cancer). Furthermore, the test is not 100% accurate, so there is a very small chance that you could test negative and still be positive for a BRCA mutation.
   • A positive BRCA test puts you at up to an 85% risk of developing breast cancer at some point in your life, and a 30-50% risk of developing ovarian cancer. Needless to say, knowing these risks will add worry and stress to your life.
   • Consider the implications of a positive result on your children. If you test positive for a BRCA mutation, there is a 50% chance for each of your children to have the mutation (note that the mutation is most significant for girls, as male breast cancer is extremely rare and men cannot get ovarian cancer).
2. 
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   Go for the blood test. The blood test itself is very simple. You can get it done at any medical laboratory or hospital. Simply have your doctor fill out the required paperwork (which he or she will do only after you have had a consultation with a genetic counsellor), and bring it with you to the lab.

   • It will take a few weeks, or possibly even a couple of months, for you to receive the results.
   • The genetic counsellor will either book a follow-up appointment with you when he or she knows the results will be ready (as he or she may be familiar with the lab's processing time in your area). Alternatively, you may receive a phone call from the genetic counsellor when your results are ready to be reviewed.
   • If you have not heard back within a couple months, phone the lab or your genetic counsellor to check in about the status of your BRCA testing.
3. 
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   Book a post-test genetic counselling appointment. Because of the gravity of this particular test, you will be required to receive your results in the presence of a genetic counsellor (just as you had to see one prior to receiving the test). The reason for this is that they can help you to handle the impact of the results (either good or bad), and to choose an appropriate course of action moving forwards.

   • If you test negative, you can continue to live your life as normal, knowing that your risk is no greater than the general population.
   • If you test positive, however, there are a number of things to consider moving forwards. You may opt to get your breasts and/or your ovaries removed prophylactically (preventatively).
   • You may need to discuss with the genetic counsellor the impact the result may have on your children, how you plan to tell your family, and/or how it may impact your decision to have more children down the road.
   • If you test positive for a BRCA mutation, it is important to inform your children in age-appropriate ways; they will then be invited to speak to a genetic counsellor and to decide for themselves whether or not they want to be tested.
   • However, genetic testing for people under 18 is highly controversial, as they may not be mature enough to make an informed decision about a disease that will not onset until they are adults.
   • The invitation will remain open to them at any stage in life, so even if they decline in their twenties, for instance, they may return for the test in their thirties if their perspective and desire for testing has changed.
   • It is for all these reasons that it is important to see a genetic counsellor, as he or she is someone who has been specifically trained to help people navigate this challenging time in their lives.
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Expert Q&A

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• Question

  I have a family history of breast cancer and was recommended to see a genetic counselor, but I’m pretty sure I don’t want the testing done. Should I still see a counselor?

  

  Janice Litza, MD
  Board Certified Family Medicine Physician

  Dr. Litza is a Board Certified Family Medicine Physician based in Racine, Wisconsin. With over 25 years of educational and professional experience, she has extensive experience providing full-spectrum Family Medicine, including obstetrics, newborn care, and hospital medicine. She is currently the Residency Program Director for Family Medicine at Ascension. Dr. Litza received her MD from the University of Wisconsin-Madison School of Medicine and Public Health and has completed additional fellowship training in Integrative Medicine through the University of Arizona.

  

  Janice Litza, MD

  Board Certified Family Medicine Physician

  Expert Answer

  The genetic specialists and counselors are the best to give you all the information you need to make the best informed decision about testing. That way, you can feel more confident in your decision to have the testing done or not and know for sure if you qualify.

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