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Myriad Announces Publication of Variant Reclassification Study in the Journal of the American Medical Association



Salt Lake City–Myriad Genetics, Inc. (NASDAQ: MYGN), a worldwide leader in personalized medicine, today 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 (JAMA).

“This is the first large, robust study to quantify the prevalence of variant reclassification of hereditary cancer testing in a large commercial laboratory, underscoring Myriad’s commitment to advancing the science of genetic testing,” said Susan Manley, CGC, MBA, vice president of Medical Services at Myriad.  “Importantly, this study underscores the need for clinicians to use a clinical laboratory that provides timely variant reclassification information to ensure appropriate medical care of patients and their relatives.”

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. 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,” said Theodora Ross, M.D., Ph.D., senior author of the study and professor of Internal Medicine at the University of Texas Southwestern Medical Center.

Myriad is unique in addressing these three goals through its proprietary myVision® variant classification program that employs multiple methods for variant interpretation to ensure that patients and their physicians receive the latest in scientific advances.  In the last year alone, Myriad has issued more than 20,000 amended test reports with uncertain variant reclassifications.

“Myriad’s commitment to provide the most accurate testing doesn’t stop when patients’ receive their initial test result,” said Ms. Manley.  “We offer Myriad patients and their families a commitment that lasts a lifetime.”

About myVision® Variant Classification
Myriad Genetic Laboratories is the industry leader in variant classification and reclassification. Over the past 22 years, Myriad has conducted millions of genetic tests for hereditary cancer. The resulting analysis and interpretation of the variant database support the Myriad commitment to reduce VUS in genetic testing.  Click here to learn more about our myVision program.


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