



Myriad myRisk® and RNA Analysis



Myriad uses RNA analysis to reduce the rate of uncertain variants and provide the most accurate results for you and your patients
Myriad has been doing RNA analysis since 2015
Myriad was the first lab to use RNA analysis when it could help to further interpret variants identified in myRisk hereditary cancer testing. Since launch, RNA analysis has impacted thousands of patients with 78% of reclassifications leading to changes in medical management guidelines.
How does RNA analysis relate to hereditary cancer testing?
Variants in DNA can be predicted to impact splicing of RNA, which can in turn affect the function of proteins that are important to hereditary cancer risk. Functional studies using RNA can help determine whether the protein is likely to be significantly impacted by alternative splicing or splice defects and add valuable information about how the variant in DNA should be classified. The application of RNA analysis to hereditary cancer risk is at an early stage and care should be taken when using functional studies to classify or reclassify variants.1,2,3

How Does Myriad Do RNA Analysis?
Myriad offers RNA analysis to all patients with an eligible variant of unknown significance (VUS) after myRisk testing is complete. This means all healthcare providers and patients have access to this valuable tool, without placing limits on when, where or how their myRisk test is submitted. Whether a provider sees patients in person or via telehealth and whether a patient submits a blood sample or saliva, Myriad will notify the healthcare provider when RNA analysis could help.
RNA Analysis Process
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Patient submits saliva or blood sample for myRisk testing
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Eligible VUS identified
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Myriad contacts ordering healthcare provider and then patient
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Blood kit shipped to patient – Myriad can also help arrange mobile phlebotomy
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RNA data analyzed and reviewed by classification committee
Criteria for variant reclassification based on RNA analysisSuggested workflow for using RNA functional studies in variant classification (adapted from Nix et al, 2020)
SNP, single-nucleotide polymorphism
Myriad requires data on the extent of the splice defect before using RNA studies to reclassify a variant. If the variant allele produces any normal transcript, additional strong evidence is needed to reclassify
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Amended report issued if variant is reclassified
Impact of Myriad’s RNA Analysis Program

Myriad has performed RNA studies on over 200 variants since 2015, which have impacted over 3,200 patients.
The majority (78%) of variant reclassifications changed medical management guidelines for patients.

Publications
- Nix P, Mundt E, Manley S, et al: Functional RNA studies are a useful tool in variant classification but must be used with caution: a case study of one BRCA2 variant. JCO Precis Oncol 4: 730-735, 2020
- Whiley PJ, de la Hoya M, Thomassen M, et al: Comparison of mRNA splicing assay protocols across multiple laboratories: Recommendations for best practice in standardized clinical testing. Clin Chem 60:341-352, 2014
- Brnich SE, Abou Tayoun AN, Couch FJ, et al: Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework. Genome Med 12:3, 2019
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Ship Kits to Patients
Myriad offers two different processes to ship the Myriad myRisk® or BRACAnalysis CDx® test kits directly to your patients’ homes.