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Predictive BRCA 1&2 genetic testing

When the mutation is known within a family it is possible to offer predictive testing to relatives. This test looks for the mutation, which is the cause of the cancer in the family. Usually if a relative does not have the mutation then their risk is the same as the general population risk. If the relative does have the mutation then unfortunately they will have a high risk of breast and ovarian cancer.

In some families, the cause of the cancer may already be known. In these families, a relative has already had genetic testing which has shown a mutation (fault) in one of the cancer genes. Often people will say that their relative “has the BRCA gene”. Predictive testing is then possible.

Predictive testing is when someone who is healthy considers genetic testing to see if they have inherited the faulty cancer gene in the family. Not everyone with a faulty cancer gene will develop cancer but their risk is increased.

Predictive testing gives relatives a definitive answer. Either:

1. The mutation is not present so there is no increased risk of cancer.

-  Their children can not have inherited the mutation and are also not at increased risk of cancer

2. The mutation is found and the individual has an increased risk of cancer. Increased cancer screening and risk reducing options may be helpful.

Who can have predictive testing?

Any blood relative of someone with a known cancer gene mutation can have predictive testing.

The brothers, sisters, parents, and children of someone with an inherited cancer gene mutation each have a 50% chance of also carrying the gene mutation. While aunts, uncles, nieces and nephews have 25% and cousins have a 12.5% chance. Cancer gene mutations do not skip a generation so if a parent has normal genetic testing their children do not need to be tested. However, not everyone with a cancer mutation will develop cancer which is why cancer may appear to have skipped a generation in some families.

In order, to offer predictive testing we will need a copy of the genetic test report from the relative who has had testing. This ensures that we know what to test for.

Genetic Testing and Insurance

Some people may be concerned about difficulties obtaining insurance following genetic testing. Currently, there is a moratorium ensuring that individuals do not need to disclose predictive genetic test results. This moratorium is valid until 2019. More information about insurance can be found at: http://www.abi.org.uk

Genetic testing process

If you would like to have testing or to learn more about your risks you will be asked to complete a family history questionnaire and provide a copy of your relative’s test report. A genetic counsellor will then explain what the faulty gene is, how it is inherited, the associated cancer risks, and options for cancer screening or risk-reducing options.

The genetic counsellor will also explore the emotional impact of genetic testing. Not everyone will decide to have genetic testing and the results can have an impact on family dynamics. The decision whether or not to have testing is a very personal one and this will be explored in the genetic counselling appointment.

If you decide to proceed with genetic testing you will be asked to provide a blood or saliva sample. Results will be available usually 2 weeks later and an appointment will be made with the genetic counsellor at this time. If testing shows you have the familial mutation then the genetic counsellor will arrange further screening and discussion of risk reducing options.

To arrange a consultation please click here

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