Some women are offered a genetic test by their surgeon/oncologist and do not attend a genetics clinic. If you have been referred to the genetics clinic, you will be invited for an appointment. During this appointment, you will see a genetics specialist or genetics counsellor who will:

• Discuss your family history with you. It is helpful to bring along as much information as possible about your family history. This includes details about any cancers your male and female relatives have had. Some women without a strong family history of cancer may still be offered a genetic test. This would depend on their cancer diagnosis and age at diagnosis.
• Work out whether you could have a genetic test and whether this could be helpful for you.
• Discuss your chances of having an altered gene.
• Help you decide whether or not to have genetic testing. You do not have to decide right away.

• The test involves taking a sample of your blood. This sample is tested to find out whether you have an altered BRCA gene.
• This sample will be tested in a genetics laboratory.

• It can take about 6-8 weeks for genetic test results to come back. This is because searching for an altered gene is like trying to find a single spelling mistake in a large book. The time that it takes may depend on your personal situation.
• You can ask your clinician how long it may take for your results to come back.

You may get your results by letter, phone or face-to-face. Your clinician may give you a choice about this. If an altered gene is found, you would be offered a genetics clinic appointment to discuss this further.

There are three possible test results:

1. Negative result (an altered gene was not found)

• This means an altered BRCA1 or BRCA2 gene was not found.
• Your family history may strongly suggest a genetic link. There may be options to look for other altered genes.

2. Positive result (an altered gene was found)

• This means you have an altered BRCA gene and:
  • You may have a higher chance of getting a second breast cancer or ovarian cancer.
  • There are ways to reduce your chance of future cancers. You can find out more about your options in the 'What results mean for me' section.
  • Other blood relatives can have a genetic test to find out if they have the same altered gene.

3. Variant of uncertain significance

• This means a change was found in the BRCA1 or BRCA2 gene but it is not known if this change is linked to cancer.
• Research is looking into these unknown alterations. If new information about these changes is found more tests may be done.

• BRCA1 and BRCA2 were the first breast cancer genes to be found and are the most commonly tested.
• There are some other altered genes which have also been found to increase a woman's chance of breast cancer. Examples of these include:
  • TP53, PALB2 and PTEN
  These altered genes are much less common than BRCA1 and BRCA2. They may not be included in routine BRCA testing unless the genetics clinic thinks they should be looked at based on your family history.
• Other genetic alterations have been found that can slightly increase a woman's chance of breast cancer. These changes are common but are not thought to be useful for assessing risk or deciding about cancer treatment.
• BRCA testing is different from the Oncotype DX test.
• If you are concerned about other altered genes, you should discuss this with your genetics specialist.

You can have genetic testing privately. Women may choose to do this if they are not able to have a genetic test within the NHS. This may be because they do not have a strong family history. If you are thinking of having a test privately, you will need to think about the following:

• If you do not have a strong family history of cancer, there is a low chance that you will have an altered gene. There may be a higher chance of you having a negative or variant of uncertain significance result.
• The tests can be expensive.
• If you decide to look into private testing you may want to ask:
  • The price of the test
  • Which genes they test for
  • If counselling is available to help you decide if you need or want to have a test
  • How you will receive the results