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Juvenile Polyposis:
A Guide for patients and their families

Issues to Consider with Genetic Testing

Joy Larsen Haidle, MS, CGC, UI Health Care
V. Kim Horton, RN, MS, CGC, UI Health Care
James R. Howe, MD, UI College of Medicine
Hope Bergemann, UI Health Care

Peer Review Status: Internally reviewed by the authors
First Published:
Last Revised: April 2002


When deciding whether to pursue genetic testing, one must consider the risks, benefits, and limitations. If a gene change is identified, an accurate diagnosis may be available for persons affected with JP, as well as at-risk family members who may be presymptomatic. At this time, however, the treatment options are the same whether or not individuals choose to pursue genetic testing.

A positive test result indicates the presence of a gene change associated with JP. This test result may increase the likelihood of juvenile polyp and cancer development, but it does not mean they are inevitable. The chance of developing cancer, at some point in their lifetime, as a result of |P may be as high as 50 percent, although the true chance of developing cancer in JP is unknown. Benefits of a positive genetic test result may include early detection of JP symptoms from increased screening, cancer prevention, and psychological benefit if the uncertainty is ended.A negative genetic test result may have different meanings depending on the person who was tested. For example, if genetic testing of an individual affected by JP provides a negative test result, this person still has the diagnosis of JP based on clinical findings. In this case, the genetic test was unable to find the gene change causing JP. Therefore, this test would not be helpful for other family members. However, a negative test result in a person whose family has a known gene change may determine that they did not inherit the gene change. Therefore, the person would not be at increased risk to develop symptoms related to JP nor would he or she have an increased risk of developing cancer above the general population. Regardless of family history, everyone is at some risk for developing cancer.If your family has undergone genetic testing and a gene change has been identified that is known to cause JP, then accurate presymptomatic testing may be available for individuals at risk in your family. If genetic testing was not able to identify a gene change in your family, then the genetic testing that is currently available is not able to determine who is and who is not at-risk for this condition. In this situation, relatives should be followed as if they are at-risk until it can be proven that they are not affected.

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Last modification date: Mon Aug 7 13:10:24 2006
URL: http://www.uihealthcare.com /topics/medicaldepartments/cancercenter/juvenilepolyposis/genetictests.html