Getting tested

Find out what the genetic test involves and possible results, as well as what you need to think about before deciding whether to start the testing process.

Test considerations

What should I do if I think I have hereditary ovarian cancer?

If you've been diagnosed with ovarian cancer and not offered genetic testing, arrange to talk with your oncologist and discuss whether you may be eligible. There may be reasons why genetic testing might not be appropriate for you and your team can discuss this with you. If you haven't been offered a test and you're still wondering whether genetic testing might be right for you, you may still be able to ask for a referral to a genetics centre via your GP or oncologist. Find your nearest genetics centre

You will then be offered the chance to speak with a genetic counsellor (a professional who is trained to talk to you about the risks and benefits of genetic testing) to help you make a decision about whether or not to have the test, and what the effects would be for you and your family members based on your choice.

What should I consider before having a genetic test?

There are some important things to think about before going ahead with genetic testing; in particular you should think about the impact of the testing on yourself and on those who are close to you. It's important that you have a chance to discuss all your concerns and uncertainties about genetic testing before you decide whether or not to have the test.

In many places genetic testing is done by the same team and in the same place as your ovarian cancer treatment (the oncology clinic) so you won't be referred to a genetics centre. This is called mainstreaming and it means that genetic testing can happen faster than if you had to go elsewhere. Your medical team should give you written information about genetic testing and you should have the chance to ask them any questions that you might have. It's important to tell your team if you still have unanswered questions or if there's anything you're not sure about after your discussion with them. In this situation it might be helpful for you to be referred to a genetics centre so that you can speak to a genetics counsellor before deciding whether to have genetic testing.

Considerations for me

Some women find it helpful to have an explanation for why they developed ovarian cancer. However, there will be other implications for you if you're identified as having a hereditary cancer risk as you will have an increased risk of developing other cancers. In the case of the BRCA1 or BRCA2 genes you'll have a higher risk of developing breast cancer (in comparison to the general population). Your options for managing this risk will depend on your current cancer diagnosis and treatment. The results of genetic testing may also have implications for your ovarian cancer treatment.

More about the implications of the BRCA1 and BRCA2 gene mutations

Considerations for my family

A second consideration is the impact on your family. Other members of your family may also have the gene mutation if you do, including your mother or father, siblings and your aunts, uncles and cousins, depending on which side of the family the mutation is passed down. The children of someone with a BRCA1 or BRCA2 gene mutation have a 50 per cent (one in two) chance of having inherited it and therefore being at increased risk. They also have a 50 per cent (one in two) chance of having inherited a normal copy of the gene from the parent with the gene mutation. In that case, they would not have an increased risk of cancer due to a gene mutation.

Women with a BRCA1 or BRCA2 gene mutation have a high risk of developing breast and ovarian cancer and men may have an increased risk of developing prostate cancer and male breast cancer. There may also be a small increased risk of pancreatic cancer for men and women who carry BRCA2 gene mutations.

More about discussing your results with your family

Due to the potential implications, it can be very helpful to discuss genetic testing with your relatives at an early stage. If you have contact with your local genetics centre prior to deciding about genetics testing, they will talk about these issues with you in more detail.

When should I have genetic testing?

If you're eligible for a genetic test, it's important to ask yourself "When is the right time for me to have genetic testing?". There's evidence that having genetic testing soon after a cancer diagnosis can be more distressing. But having genetic testing early also means that people with a gene mutation can receive treatment such as PARP inhibitors (a group of drugs that work by stopping cancer cells repairing themselves) at an earlier stage.

If you feel that now is not the right time to have genetic testing, you may choose to think about it again at a later stage. Some women have DNA stored (from a blood sample) so that it is available for genetic testing in the future.

The genetic test and possible results

There are a few stages to having a genetic test. In many places genetic testing is done by the same team and in the same place as your ovarian cancer treatment (the oncology clinic). This means that someone in your medical team will speak to you about genetic testing during one of your oncology appointments.

You may be asked to complete a form about your family history. You may find it helpful to talk to your family members to gather as much information as possible. Don't worry if you can’t answer any/all of these questions. Lots of women don't know about their family history – not knowing does not affect your test.

During the appointment you'll be given information about what a genetic test involves and what the results might mean for you and your family. You'll also be able to ask questions. It's important that you take your time to think about whether you want to have the test. Some centres will want you to wait until your next appointment to decide. If you're struggling with the decision you should be given the chance to talk to someone about your feelings. This person may be called a genetic counsellor (a professional who is trained to talk to you about the benefits and risks of genetic testing).

If your treatment centre doesn't offer genetic testing then your oncologist can refer you to the local genetics centre for the test. You'll be asked to make an appointment to visit the genetics centre where a clinical geneticist (a doctor who specialises in genetics) or a genetic counsellor will discuss with you what is involved in a test and what the implications might be for you and your family.

After this, if you choose to go ahead with the test you'll have some blood taken to the tested. In lots of oncology clinics this will happen during your next routine blood test (for example a blood test before having chemotherapy). In other oncology clinics you may have the choice to go back to the clinic at a different time (because your appointment is too soon or not soon enough).

Your blood sample will be sent to a genetics laboratory to be tested. In many places, you'll be given a choice of how you'd like to receive the results of the test – whether by phone or in writing, or sometimes face to face.

The time it takes for the blood test to be analysed and the results to be available varies slightly between the genetics centres and you'll be advised how long it will take for yours. It's usually between four and ten weeks.

When you're told about your test result, you'll be given some more information about what the result means and what the next steps are. You'll also be able to speak with your treatment team in the oncology clinic (or the genetics team at the genetics centre) who will talk you through your result and the next steps in as much detail as you need.

At the first meeting they talked about the likelihood of it being genetic, and asked me to complete the family history forms. Because an aunt on my dad's side had died of ovarian cancer, and another of breast cancer, the counsellor said this indicated a strong link.


What are the possible results of a genetic test?

There are three possible results for testing for a BRCA1 or BRCA2 gene mutation.

  • Mutation present (sometimes called a positive test result): testing identifies a mutation that causes a significant change to the gene and is therefore very likely to be the cause of your cancer.
  • Variant of unknown significance (VUS) (sometimes called an inconclusive test result): testing may identify a mutation or alteration in the gene where it's uncertain whether or not this would cause an increased cancer risk. This is known as a variant of unknown/uncertain clinical significance because it's not clear if it causes significant changes to the gene.
  • Mutation not present (sometimes called a negative test result): testing has not identified any gene mutations.

Our information focuses on information about BRCA1 and BRCA2 gene mutations as this is what is most commonly tested for at the moment. Testing is currently in development for a number of other genes. For the most up-to-date information about genetic testing, please contact our support line on 020 7923 5475.


This information is reviewed regularly and is in line with accepted national and international guidelines. All of our publications undergo an expert peer review and are reviewed by women with ovarian cancer to ensure that we provide accurate and high-quality information. To find out more take a look at our information standards.

Last reviewed: March 2020
Next review: April 2022