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What do the results of genetic testing mean?


What do the results of genetic testing mean?

The results of genetic tests are not always straightforward, which often makes them difficult to interpret and interpret. Therefore, it is important for patients and their families to ask questions about the potential significance of genetic test results before and after testing. When interpreting test results, healthcare providers consider a person's medical history, family history, and the type of genetic testing performed.


A positive test result means the lab has found a change in a specific gene, chromosome, or protein of interest. Depending on the purpose of the test, the results can confirm a diagnosis, show that a person is a carrier of a specific genetic variant, identify an increased risk of developing a disease such as cancer, or indicate the need for further testing. Since family members share some genetic material, a positive test result may also have implications for some blood relatives of the person being tested. It is important to note that positive results from predictive or presymptomatic genetic testing often do not determine the exact risk of developing the disease. Also, healthcare providers often cannot use positive test results to predict the course or severity of a condition. In rare cases, a test result can be a false positive, which can happen when the results indicate an increased risk of a genetic disorder when the person is not affected.


A negative test result means the laboratory has not found changes known to affect the health or development of the gene, chromosome or protein in question. This result can indicate that a person is not affected by a particular disease, is not a carrier of a particular genetic variant, or is not at increased risk of developing a certain disease. However, the test has the potential to miss genetic changes that cause disease, as many tests cannot detect all the genetic changes that could lead to a particular disease. Further testing or retesting at a later time may be required to confirm a negative result. In rare cases, a test result can be false negative, which can happen when the results indicate a reduced risk or a genetic condition when the person is actually affected.


In some cases, test results may not provide any useful information. This type of outcome is called uninformative, indeterminate, indeterminate, or ambiguous. Uninformative test results sometimes appear because everyone's DNA has common natural variations, called polymorphisms, that do not affect health. If a genetic test finds a change in DNA that has not been shown to play a role in the development of the disease, called a variant of uncertain significance (VUS or VOUS), it can be difficult to tell whether it is a natural polymorphism or a pathogenic variant. For these variants, there may not be enough scientific research to confirm or disprove the disease association, or the studies may contradict each other. Uninformative results cannot confirm or rule out a particular diagnosis, or indicate whether a person is at increased risk for the disease. In some cases, testing other affected and unaffected family members can help clarify this type of result.


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