Myriad Genetics announced that results from a landmark study of variant classifications following hereditary cancer genetic testing were published in the Journal of the American Medical Association.
This was a retrospective study of individuals who had genetic testing from 2006-2016 at Myriad Genetics. Genetic variants were classified as Benign, Likely Benign, Variant of Uncertain Significance, Likely Pathogenic, or Pathogenic. The primary objective of this study was to measure the frequency and types of variant reclassification.
The results showed that 1.45 million individuals had genetic testing in the 10-year time period and 59,955 amended reports were issued due to variant reclassification. Importantly, 25 percent of all reported variants of uncertain significance were reclassified, with 91 percent downgraded to Benign/Likely Benign and 9 percent upgraded to Pathogenic/Likely Pathogenic.
“The implications of this study are three-pronged,” said Theodora Ross, senior author of the study and professor of Internal Medicine at UT Southwestern Medical Center. “Physicians need to be aware of how rapidly knowledge about gene variants is advancing and that reclassifications are common. Labs need to review gene variant information on a regular basis and alert physicians to changes. Finally, patients and their family members need to be made aware of reclassifications by their physicians so they can make well-informed choices.”
