The first step in genetic testing involves getting a blood, or occasionally a tissue sample, and removing the genetic material from a person's cells. The genetic material is then analyzed for alterations, called mutations, which may impair the function of the gene. There are several different techniques for identifying gene mutations, and the technique used will depend on the gene that is being studied. Genetic testing for some hereditary conditions, such as Peutz-Jegher syndrome is very new and only offered to families participating in research studies. Genetic testing for HNPCC and FAP is available through some commercial clinical laboratories as well as research studies.

When the first person in a family has genetic testing, there are three possible outcomes. First, a genetic mutation may be identified. This is called a positive result. This result helps to confirm the diagnosis of a specific condition, and this information can be used to help plan screening and make surgical decisions. Once a genetic mutation is identified in one person, genetic testing can be offered to other family members to determine if they are also at risk.

Second, no genetic alteration is detected. This is called a negative result, however, this result does not, however, rule out the possibility of an inherited condition. Current genetic testing technology may not be able to detect all mutations. Also, there may be alterations in other genes that have not yet been identified. Cancer screening is still important for families who have a negative test result. The screening recommendations will be based on personal and family history. When a genetic mutation has been identified in one family member, other family members can be tested for the same alteration. If they test positive, they are also at risk; if they test negative, this means that they have not inherited the alteration and are not at increased risk.

The third possible outcome is an inconclusive test result. Sometimes a genetic alteration is identified, but it cannot be determined if that alteration is responsible for causing the cancer risk in the family. All people have variations in there genes. That is why some people have blue eyes and some people have brown eyes. However, these variations are just part of what makes us unique and they do not cause a risk for disease. Further tests may need to be done to determine the significance of an inconclusive test result, and continued cancer screening will be recommended for the family.

Meeting with a genetic counselor is one helpful way to learn more about your personal cancer risks and options for genetic testing. Genetic counselors are health care professionals who specialize in working with families at risk for hereditary conditions. It is important to have complete information before making a decision about genetic testing. Some important questions to ask include:

	Is the genetic testing being done as part of a research study, or in a clinical lab?
	Will there be a charge and, if so, how will I be billed?
	If the testing is part of a research study, will my sample be used for other research in the future?
	When will results from this testing be available, and how will they be communicated to me?
	What are the possible results of this testing?
	How will the results affect my current health care and the health care of my family members?
	At what age should my children have testing?

In addition to learning about the medical impact of genetic testing, it is also important to consider how having genetic testing may affect your personal feelings and the relationships in your family. Receiving genetic test results may cause many different emotions. Some people may feel more in control, while other people may feel anxious. Family members may feel differently about having genetic testing; some may want to have testing while others may not. Parents may have concerns about how their genetic test results may affect their children. Some families may also have concerns about how the results from genetic testing may affect their ability to get health insurance.

These are just some of the issues to consider before having genetic testing. There may be additional issues specific to the condition in your family. To find a genetic counselor in your area, contact the National Society of Genetic Counselors at 610-872-7608 or talk to your physician about options in your area.