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 publications7-9
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.
- Esterling, L, et al. ASHG 2015.
- Eggington J, et al. Clinical Genetics 2013.
- Fernandes P, et al. ACMG 2015.
- Kerr I, et al. International Symposium on HBOC 2016.
- Warf B, et al. International Symposium on HBOC 2016.
- Coffee B, et al. ACMG 2015.
- Pruss D, et al. Breast Cancer Research and Treatment 2013.
- Morris B, et al. BMC Genetics 2016.
- Bowles K, et al. ACMG 2016.
- Mersch J, et al. JAMA 2018.