Overview of Genetic Testing

The genomic testing that your health care provider has ordered is for clinical purposes and is not a research study. Consent is not required for clinical testing, but your health care provider may wish for you to sign a form indicating that you received the information.

The key information in a genetic test report is a list of "genetic variants" with an assessment of the medical implications for each variant. Variants are classified as follows:

PATHOGENIC (positive report): This variant is causing the patient's medical condition or predicts that the patient has an increased risk for developing a medical condition in the future. This type of genetic test result can be used in clinical decision-making.

LIKELY PATHOGENIC (qualified positive report): Sufficient evidence exists to justify using the genetic test result in clinical decision-making when combined with other evidence for the disease in question (e.g., X-ray studies or other laboratory tests).

NO VARIANTS REPORTED (negative report): No genetic changes were found to explain the patient's medical condition. This result reduces but does not eliminate the possibility that the medical condition has a genetic basis. Additional testing or later re-analysis of the data from the current test at a later date may be indicated.

VARIANT OF UNCERTAIN SIGNIFICANCE: Variant for which current information is insufficient to determine pathogenicity. A substantial proportion of variants of uncertain significance prove to be benign as more data become available.

A VARIANT OF UNCERTAIN SIGNIFICANCE SHOULD NOT BE USED IN CLINICAL DECISION-MAKING.

Other types of testing, such as X-ray studies or testing additional family members, may be helpful.

Incidental Findings
Because a large number of genes are examined in genetic panel testing, this analysis may uncover a different genetic disorder from the medical condition that was being tested. Genetic disorders that can be treated ("actionable incidental findings") are reported, following the standards of care recommended by medical societies. Most often incidental findings relate to treatable heart conditions or treatable conditions that might increase the risk of cancer. Incidental genetic findings are less common than incidental findings in many other routine medical tests, such as CT scans and MRIs. Some patients have concerns about learning of incidental findings. More focused genetic testing, such as single gene analysis, may be appropriate in these cases, but patients and health care providers should be aware that broad genetic testing is often more accurate.