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Getting the results of a gene test

This page is about getting the results of gene tests. There is information about

 

Coping with the results

Whatever the result of your test, it is likely to be a very emotional time. If you don’t have the faulty gene, you will probably feel a huge sense of relief. If you do have a faulty gene, you may feel very shocked, even though you knew that the test could be positive. You will probably be trying to work out what it all means and what to do next.

Most people who have a positive result will feel a range of emotions including resentment, anger, worry, and anxiety. For some people, it is a relief to know and not be uncertain any more. If several members of your family have had the test, you may also be trying to cope with their results as well. It is quite common for members of the family who have a negative result to feel guilty if other members have a positive result.

Before you have the test your genetic counsellor will have discussed with you how you may feel if your test is positive. You may have the chance to talk as a family about how you are feeling. You will also have the opportunity to carry on with counselling. Or to go back at a later date if you don’t want counselling straight away.

Most people are concerned about who to tell and how to tell them. Your genetic counsellor can help you work out the best way to do this. Some clinics have prepared letters you can send out to relatives but you may prefer to tell people face to face. Or you may want to do a mix of both, depending on which relative it is and your relationship with them.

Your relative’s reactions may vary. It may be a shock to them if they hadn’t thought about having a family history of cancer. Some people may choose to ignore the result and may even find it difficult to talk to you afterwards. Others will be glad that you have warned them about the possibility that they may have a faulty gene and will have a test themselves.

Living with the risk is difficult. Some people find it helps to talk to their family members and others may prefer to talk to a counsellor. Talk to your doctor to find out about what check ups you need and how often you will have them. Not everyone who has a faulty gene goes on to develop cancer. So, scientists are still researching which other factors may cause cancer. Whatever your situation, you can help to reduce your risk by choosing a healthy lifestyle. There is information about reducing your risk in the News and Resources section.

 

When the test doesn’t find a faulty gene

If your family has a known faulty gene and your test comes back negative, it means that you aren’t carrying that particular faulty gene – so it is good news.

It doesn’t mean you won’t get cancer though. Your risk is the same as everyone else. You can still reduce your risk by choosing a healthy lifestyle. There is more information about reducing your risk in the News and Resources section.

If doctors haven’t found a faulty gene in your family but you have a strong family history of cancer, it could be that you don’t have one of the known high risk genes. But you could still be at higher risk of particular cancers than the general population.

If this happens, you and the genetics specialist will work out the best way to keep a check on you to find cancers early if you do develop one. The uncertainty of this can be very difficult and it is important that you have the support that you need.

 

If the test finds a faulty gene

A genetic counsellor will talk to you before you have your test. They will talk you through what your options are if the test finds a faulty gene (a positive test result). It is usually part of the process of deciding whether to have the test or not. What you decide to do next depends on the gene that you have and which cancer it may increase your risk of getting. Some genes increase your risk more than others.

Your options may include

Regular screening

Screening doesn’t prevent cancer but aims to catch it at its very earliest stage. The type of screening, when it starts and how often you have it will depend on the type of cancer you are at risk of getting. You can find out about screening for people at high risk in the cancer types section. The following links take you to the specific pages about screening for these cancers

For other types of cancer, the link between the cancer and family history may be less strong. For more information you can look in the risk and causes section of the cancer you are interested in. You can find a list of cancers in the specific cancer section.

Treatment to reduce your risk

You may be able to have treatment to reduce your risk of getting cancer. This is possible for some cancers where there is a known faulty gene.

The main risk reducing treatment is surgery to remove the part of the body at risk of developing cancer. For example, women who have one of the faulty BRCA genes may choose to have both breasts removed with breast reconstruction. This type of surgery is called preventive mastectomy or prophylactic mastectomy. Or they may have their ovaries removed (prophylactic oophorectomy). Some women choose to have their ovaries and breasts removed.

Treatment to reduce your risk of bowel cancer would be an operation to remove your large bowel (prophylactic colectomy).

If you have one of the breast cancer genes another option is to take drugs to prevent breast cancer. Tamoxifen is a drug that has been used to treat breast cancer for more than 35 years. It works by stopping oestrogen from triggering hormone receptors in breast cancer cells. Raloxifene is a drug used to treat osteoporosis. Researchers have found these drugs can also prevent breast cancer in women at high risk.

These drugs are not currently approved in the UK as drugs to prevent breast cancer. But the National Institute for Health and Care Excellence (NICE) recommends that women at high or moderate risk of developing breast cancer should talk to their doctor about taking either tamoxifen or raloxifene for 5 years as another possible option. Both of these drugs have side effects including increasing the risk of developing blood clots and strokes. So, NICE do not recommend them if you have had a blood clot or are at risk of developing one. Tamoxifen also slightly increases the risk of womb cancer.

There is more about research looking into drugs which may prevent breast cancer on the page about research into preventing and diagnosing breast cancer.

Before you decide to have any treatment to reduce your risk, it is worth thinking about and finding out

  • What treatment is available
  • How much it will reduce your risk of developing cancer
  • How you feel about having treatment
  • What the treatment involves
  • What the immediate and long term side effects are
  • Whether side effects can be controlled
  • When you should have the treatment
  • Whether the treatment will affect your fertility
  • Whether you can time your preventative treatment so that you can have a family first

If treatment is available, the timing of it will be affected by the type of cancer you are at risk of developing and the gene fault you have. For some cancers, your risk may not be significantly increased until you are in your 40s. For others you may need treatment earlier.

A positive result may make you think about the choices you make in your life. For example, it may change when you decide to have children, and the choices you make about work and your career.

Choosing to have treatment to reduce your risk is a very personal decision. Surgery doesn’t necessarily stop you getting cancer completely. Nobody can guarantee that. But it will reduce your risk significantly of getting that particular type of cancer.

Surgery can also change how you feel about yourself. For some people the reduction in risk makes their lives much easier. For others the changes in their body, whether visible or not, are very difficult to cope with. It is important to try to think about how you will feel if you do have treatment and how you may feel if you don’t.

When you have surgery to prevent cancer, there is also a small risk that the surgeon will find you already have it. If this happens you may need further treatment after the surgery. Finding a cancer early is a good thing because the cancer will be small, easier to treat and more likely to be curable.

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Updated: 19 August 2013