Myriad presents data on its tools used to classify variants in cancer risk genes

March 8, 2016 – SALT LAKE CITY. Myriad Genetics, Inc., a leader in molecular diagnostics and personalized medicine, today announced it will present new data on its proprietary variant classification program that is used to classify variants in cancer risk genes.  The study will be highlighted at the American College of Medical Genetics (ACMG) and Genomics annual clinical genetics meeting in Tampa, Fla.

“As the world leader in multi-gene panel testing for hereditary cancer, we have a long track record and commitment to advancing the science of variant classification,” said Johnathan Lancaster, chief medical officer, Myriad Genetic Laboratories.  ”Our goal is to provide physicians with the highest quality results possible for every test we perform.”

Myriad’s myVision variant classification program is comprised of proprietary techniques that allow for the most accurate classification for hereditary cancer variants including: Pheno®, M-Co®, InSite™ and LitView™.  The Pheno technique is a history weighting algorithm that could only be developed by Myriad after sequencing the DNA of more than 400,000 patients. 

In this study, the Pheno algorithm was used to analyze variants of unknown significance associated with high cancer risk genes including BRCA1, BRCA2, MLH1, MSH2 and MSH6.  Additionally, the algorithm was updated to analyze variants of unknown significance in moderate cancer risk genes including ATM, CHEK2 and PALB2.  The results of this study showed that Pheno was >99.5 percent accurate for upgrading and downgrading variants of uncertain significance to more definitive clinical classifications. 

“As the myRisk Hereditary Cancer 25-gene panel test becomes more integrated into clinical practice, there will be a need to classify a greater number of variants,” said Lancaster. “Variants of uncertain significance are particularly problematic for physicians because they leave questions as to whether variations in a patient’s DNA are of concern.  This study demonstrates the ability of Pheno to accurately classify variants from a broader range of genes, which should help reduce anxiety for more patients and their families.”

Source: Myriad Genetics