New Data Published in Clinical Genetics Demonstrates the Complexities of Variant Interpretation
A recent publication in Clinical Genetics with Myriad’s Eric Rosenthal (CGC, PhD) as the lead author reviews three case studies in which emerging clinical data evaluated by Myriad contradicted an initial pathogenic classification. According to current ACMG guidelines, predicted loss of function (LOF) is sufficient evidence for a pathogenic classification in genes for which LOF is a known cause of increased cancer risk.1 However, there is compelling clinical evidence for a small proportion of variants in hereditary cancer genes that demonstrates the need for careful analysis and re-evaluation of seemingly straightforward classifications.
These cases illustrate the benefits of a properly resourced and well-designed laboratory program for variant interpretation. Myriad’s ongoing efforts to gather and evaluate data about variants include robust mechanisms to monitor the literature and proprietary techniques such as the Pheno® (Family History Weighting) and MCo® (Mutation Co-Occurrence) algorithms. Variants detected by Myriad are evaluated using multiple lines of evidence in our database, and any reclassifications are reported out to the ordering provider. A recent publication in Clinical Genetics outlines Myriad’s process for variant interpretation in greater detail.
1Richards CS, Bale S, Bellissimo DB et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genetics in medicine: official journal of the American College of Medical Genetics 2008: 10: 294-300.
Myriad, the Myriad logo, myRisk, the myRisk logo, MyriadPro, the MyriadPro logo, the myVision logo, Pheno and MCo are either trademarks or registered trademarks of Myriad Genetics, Inc. in the United States and other jurisdictions. ©2015, Myriad Genetic Laboratories, Inc.
Feb 16, 2015
Regulatory Uncertainty Causing Retesting Confusion for Patients Considering New Ovarian Cancer RxPremium
ARTICLE: IN-DEPTH—in Regulatory News
In the current unsettled regulatory environment, genetic counselors are questioning how to advise ovarian cancer patients considering treatment with AstraZeneca's Lynparza.
3 priorities to grow and diversify:
1. moving from single cancer sydrome to panels - example moving from core BRCA to MyRisk (25 gene over 8 cancers that are all clinically actionable and in medical professional guidelines). Demand has increased for MyRIsk with 100% conversion of physician from single channel to panel once they experience it. Last fall, anticipated 30% office conversion but experienced over 50% with conversions exceeding expectations so demand outstripped capacity. Full conversion on track to be accomplished by end of summer.
2.R/D to launch new products - 3 new ones in 2014 and Creshendo moves MYGN to autoimmune
3. diversify geographically worldwide - now 100 countries and should expand further
Reimbursement issues - BCBS and United - may have up to 75% of covered lives that would reimburse for MyRisk and stable rates with 3-5 year agreements. Good acceptance to panel testing.
Preventative channel generated more revenue last quarter than oncology channel for first time. Have primary care sales force to address this opportunity. newer market for Myriad with 5% penetration into OBGYN office. Grew 30% but still lots of opportunity.
Companion diagnositic -20 collaborations with pharma across different classes of drugs. MYGN working with 5 of 6 companies for PARP inhibitors. now have FDA approval for the testing and only approved test. Should contribute to growth.
One size fits all from perspective of cancer therapy does not work anymore. Now companion testing accompanies about 50% of all drugs gonig through approval today have an associated diagnostic. Working with the FDA is a core competency of MYGN so is a great opportunity for the future.
Vectra DA - approved for Medicare Reimbursement since 2013. Important since 40% of RA patients are in Medicare so planning on digging deeper into that population. Added focus to bring Vectra DA to private insurance for reimbursement by supplying the data that is required. Strong sample base.
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Feb 04, 2015
Myriad Discusses Outlook for its Burgeoning CDx Business Following Lynparza ApprovalPremium
ARTICLE: IN-DEPTH—in Business News
During its second quarter earnings call, Myriad officials detailed the market prospects for its tumor and germline BRACAnalysic CDx tests.
Utah Court Dismisses Two More BRCA Testing Patent Lawsuits against Labcorp, Ambry
Jan 20, 2015
Myriad RBM, Institut Pasteur to Field Test Platform for TB
ARTICLE: BREAKING NEWS—in Business News
The partners will test TruCulture as a point-of-care blood collection and immune response monitoring method and to stratify patients with latent and active TB.
Jan 23, 2015
Myriad Settles Patent Fray over BRCA Testing with Pathway Genomics
ARTICLE: BREAKING NEWS—in Business News
The parties have decided to drop their claims and counterclaims against eachother ending a patent infringement lawsuit on BRCA testing.