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Uses of genetic testing in health

Is genetic testing necessary for everyone?

Genetic mutations that cause health problems are not common. Therefore, health-related genetic tests are generally only recommended when there is a history of a genetic health problem in the family, or where a person has symptoms that may suggest a the presence of a genetic condition.

Blood relatives share regions of their DNA with each other, so if one member of a family is found to have a genetic mutation, other members of the family may also have the same mutation. If the mutation is likely to cause health problems, then the health of other family members could be at risk. Doctors usually encourage people to share this type of information with their family so that other members can seek medical advice as appropriate and make their own decisions about their health.

Are there alternatives to having a genetic test?

Although a genetic test may be important, particularly in the diagnosis of a condition, it is important to remember that genetic tests are not the only way to get health information. Your family history is still the best indicator of your risk of developing a condition.  Several standard, non-genetic, clinical tests can also provide you with a good indication of your health risks, such as tests to measure cholesterol levels.  Your doctor (GP) is able to advise you about these and can offer you advice about lowering your risk of many future conditions.

What should I do if I am considering a genetic test?

If you are considering a health-related genetic test that could have serious implications for yourself or family members, it is important to ensure that you receive the advice, information and support you need.  For this reason, it is recommended that you discuss your plans with a health professional and where possible, have a health-related genetic test done in an appropriate health care setting.

An increasing amount of genetic tests are available over the internet, directly to consumers. These tests, commonly referred to as direct-to-consumer genetic tests, are available for a range of purposes beyond medicine, including discovering more about your ancestry or lifestyle.  The direct-to-consumer genetic testing page discusses the benefits and risks associated with such testing in greater detail.

The next section gives an overview about the types of health-related genetic tests available. If you think you might benefit from having a genetic test, talk to your doctor.  He or she may be able to give you the advice you need on which test (if any) is appropriate, or refer you to someone that can provide more information, such as a genetic counsellor or a specialist centre.Should the need for genetic testing be indicated, you can have this done in a properly regulated clinical setting, which provides you with protection, counselling and support.

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Page reviewed: 7 July, 2011