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Family Segregation Studies

Although much has been learned about DNA and the human genome over the last several decades, there remains significant knowledge to be gained. As such, patients may receive results indicating a variant of uncertain significance or VUS, meaning although a variant is present, adequate information is not available to determine the possible implications, if any, to the patient’s health.

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Determining VUS Significance with Family Segregation Studies

Patients who receive a VUS result are often unsure of what to do next. One option is to conduct Family Segregation Studies (FSS) which may be helpful in assessing the clinical significance of a patient’s VUS test result. FSS is an evaluation of specific relatives to determine if they have the same VUS result as seen in the initial patient. The results may assist the laboratory in reclassification of the variant from a VUS to another classification. Labcorp reports VUS results in three categories: VUS Possibly Benign, VUS, and VUS Possibly Pathogenic. A patient who receives test results from Labcorp with any category of VUS may be considered for FSS. The table below reviews the possible results types with their definitions.

ResultDefinition
VUS – variant of uncertain significanceUnclear if the change causes or will pose an increased risk to develop the specified condition
VUS, possibly pathogenicUncertain if the change causes or will pose an increased risk, but a small amount of data suggests the variant may be associated with the specified condition
VUS, possibly benignUncertain if the change causes or will pose an increased risk, but a small amount of data suggests the variant may not be associated with the specified condition