Genetic Testing

I recently listened to two reports by National Public Radio about genetic testing and the consequences of having the tests performed. Genetic testing is when the genes of an individual are examined for specific mutations which have been shown to be related to an increased risk of diseases such as cancer. Genetic testing is a relatively new form of testing and as such it is being debated when genetic testing should be used and who should get tested.

In the report they looked at a family in which several members recently underwent genetic testing for a gene which is connected to ovarian and breast cancer. They chose to do these tests because of their family history and their perceived need to know whether or not they were at an increased risk. As this family learned, it is not as simple as knowing if they will get the diseases. This family found out that they did have a potentially harmful genetic mutation and were unsure of how to handle this new knowledge. This is not an uncommon result of positive genetic test; many people who get back positive results are unsure of what to do next.

Another effect of genetic testing being a relatively new area of science is that it is unknown what some mutations do or if they will have any effect on the health of the individual at all. Mutations happen all of the time and most of them have no effect on the person at all but it is difficult to explain this to a person who has just been told that they have an unknown mutation in a gene that is linked to ovarian cancer or breast cancer.

Another ethical dilemma is raised when considering who should be tested. For many people testing could cause unnecessary worry if the test is inconclusive because most inconclusive tests have no effect on health. Even positive tests do not guarantee that they will get the disease; it just means they are at an increased risk compared to the rest of the population. For others the knowledge may cause them to change their lives and do things that they have always wanted to do because they may not have many more opportunities.

Genetic testing can raise more questions than it can answer and it may be an example of technology advancing beyond knowledge. It can be an important tool which doctors can use but they need to be careful who they test. They need to ensure that the person is emotionally ready to be tested and that they do have a strong enough family history to suggest a need for the test. This is not a test that everyone should have done; it should be treated like many other medical procedures and tests and only be performed when absolutely necessary.