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.

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.

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References:

1. Esterling, L, et al. ASHG 2015.
2. Eggington J, et al. Clinical Genetics 2013.
3. Fernandes P, et al. ACMG 2015.
4. Kerr I, et al. International Symposium on HBOC 2016.
5. Warf B, et al. International Symposium on HBOC 2016.
6. Coffee B, et al. ACMG 2015.
7. Pruss D, et al. Breast Cancer Research and Treatment 2013.
8. Morris B, et al. BMC Genetics 2016.
9. Bowles K, et al. ACMG 2016.
10. Mersch J, et al. JAMA 2018.