Variant Reclassification

Why is Variant Reclassification in Hereditary Cancer Testing Important?

Variant classification is a key component of germline testing, allowing patients to have an accurate answer when they receive a result and stay informed as new information leads to reclassification. Not all labs send amended reports or have variant classification programs, leading to a gap in patient care. Having a robust variant classification program with several tools to classify and reclassify variants is vital to providing the highest level of patient care.

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myVision: Myriad’s unmatched Variant Classification Program

myVision incorporates several proprietary, clinically validated tools as well as other advanced methods to provide the most comprehensive variant classification program available.

• Enhanced Methods
  • Literature Review: Myriad has an automated literature search engine and employs dedicated PHD level scientists to review the literature¹
  • Population Analysis and Segregation Analysis: Myriad’s optimized approach as described in Eggington, 2013²
  • In Trans Co-Occurrence & Homozygosity: Demonstrated to be >99% accurate in Fernandes, 2015³
  • Structural Biology Analysis: Myriad’s approach described in Kerr, 2016⁴
  • Functional RNA Splice Site Analysis: Myriad developed the first research laboratory dedicated to RNA analysis, the approach of which is described in Warf, 2015⁵
• Advanced Methods Unique to Myriad
  • M-CO™: Myriad’s unique mutation co-occurrence statistical model was developed and validated with >400,000 patients and demonstrated to be >99% accurate in Coffee, 2015⁶
  • Pheno™: Myriad’s unique family history weighting tool developed and validated for BRCA 1/2, MLH1, MSH2, MSH6, ATM, CHEK2, PALB2, and BARD1. Demonstrated to be 99% accurate in multiple publications^7-9

myVision is a lifetime commitment to patients, with review of variants and updated amended reports sent out to patients daily¹⁰

• 60,000+ amended reports between 2006 and 2016
• 2,868 variants reclassified between 2006 and 2016
• 9% of these reclassifications impacted recommended medical management

Myriad has a diverse team of experts involved in variant classification, with review occurring daily.