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Genetic Tests

- Summary
- About genetic tests
- Benefits and risks
- Genetic counseling
- Types and differences
- Understanding results
- Questions for your doctor

Reviewed By:
Mark Oren, M.D., FACP
Martin E. Liebling, M.D., FACP

Summary

Genetic tests analyze an individual’s blood or bone marrow for mutations and variations in genes that may indicate an increased risk for developing a disease or disorder. The tests may be an effective diagnostic tool in patients who have a family history of some types of cancer. According to the National Cancer Institute, gene testing has been effective in detecting an inherited susceptibility to breast, colon, ovarian and thyroid cancers.

Predictive gene tests have been developed by scientists to detect certain gene flaws that have been associated with a higBreast cancer begins in the tissues, cells and ducts of the female or male breast.her risk of some cancers. An accurate gene test can indicate that a person has a genetic mutation but it cannot determine if the individual will actually develop the disease. However, genetic testing continues to show great promise. Countless lives may be saved once scientists fully harness the power of genetic testing and apply it to cancer screening, treatment and prevention.

However, there are many questions about testing that remain unanswered. Patients should be aware that these tests are not 100 percent reliable and that there are limits to what they can predict. There are also concerns about how positive results in genetic testing might impact a patient’s ability to get a job or obtain health and life insurance.

In addition, test results that reveal disease or high risk of disease can have a significant impact on patients and their families. If a genetic mutation is present, individuals may face difficult decisions based on the information. Trained health professionals are available to provide genetic counseling to help individuals adjust to test results and plan treatment or prevention measures.

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Review Date: 03-16-2007
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