Genetic testing - possible implications

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Implications for the extended family
The results of a genetic test may affect other members of the family. For example knowledge of one individual's mutation status may reveal the mutation status of other family members who may or may not wish to know this information. Family members may attempt to encourage or dissuade other members from having the test.

Life Insurance implications
Undergoing genetic testing may restrict the individual from obtaining some types of life insurance, or it may substantially increase the cost of such insurance. However, in the case of strong family histories, the cost of insurance may be increased anyway, whether or not testing is undertaken, because of the family history of cancer. The government is currently working with the insurance industry to clarify the situation. More information can be found about genetic testing and insurance on the Human Genetics Commission website.

Possible loss of employment, education and other opportunities
Some individuals who are susceptible to genetic diseases may experience discrimination. However in the case of an inherited predisposition to cancer there may be less discrimination in comparison to other genetic conditions, as early detection may potentially lead to curative interventions.

Psychological implications
The family member may experience a variety of emotions, particularly if the test reveals a mutation, such as shock, guilt, anger, blame, depression, relief, stigmatization, changes in family dynamics etc. through which they may need help and support.

The results - implications for the family member
If a mutation is found the patient may then have to decide on a further course of action. For example, prophylactic surgery may be considered. In the case of a BRCA or BRCA2 (breast cancer) mutation this could involve prophylactic mastectomies and reconstruction, and/or salpingo-oophorectomy. Alternatively, surveillance may continue as planned. If the genetic test result is negative and there is a family mutation, the individual is thus at near-population risk and surveillance may be no longer necessary. If a mutation is not found in a family, surveillance will be advised to continue for close family members.

If an individual carries a mutation then any children they have will have a 1 in 2 chance of having also inherited the familial gene fault.



This page was last modified on Thu Oct 01 2009