PR campaign Net has been calling for begins Now! Followed by Prolaris, myRisk, Vectra DA. Quest interest in CDX. Myriad has first and only approved CDX test.
Quest can have my shares for $52.00
Recent NCCN guidelines include surveillance and prevention options for CDH1.2 Preventive gastrectomy and/or upper endoscopy are recommended for risk of gastric cancer. Breast cancer risks from germline CDH1 mutations exceed the 20% lifetime threshold set for screening breast MRI adjuvant to mammography, and recent NCCN guidelines make this explicit for CDH1.
Patient B’s physician impressed upon her the importance of sharing her test results with family members. First-degree relatives of mutation carriers face a 50% chance to have inherited the same mutation. Patient B shared a copy of her myRisk™ report with her sister, allowing Patient A’s physician to order additional testing. Patient A tested positive for the same CDH1 mutation. Both sisters underwent screening endoscopy, which detected an early stage gastric cancer in Patient A.
Although germline mutations in CDH1 are uncommon, accounting for 0.5% of mutations detected in the study quoted above1, knowledge of mutation status can have a significant impact on medical management. For this family, comprehensive panel testing with myRisk led to a potentially life-saving intervention. Based on family history alone, upper endoscopy would not have been indicated, and Patient A’s gastric cancer would likely have been detected at a much later stage.
Bottom Line: Myriad’s 25-gene panel, myRisk™ Hereditary Cancer, doubles the detection of inherited cancer risks in breast cancer patients, compared with single-syndrome testing. A pan-cancer panel approach to hereditary cancer testing has the potential to identify actionable mutations that would be missed by a traditional approach to testing. This new and more comprehensive approach to hereditary cancer testing, made possible by Next Generation Sequencing, can prevent a missed diagnosis and a missed opportunity for meaningful medical intervention.
from Myriad. not responsible for content.
Use of Hereditary Cancer Panel Testing Increases Detection of Patients at Risk
Analysis of results from 17,142 breast cancer patients tested with the 25-gene Myriad myRisk™ Hereditary Cancer panel reveals a 104% increase in mutations detected, compared with BRACAnalysis® alone.1
Outside BRCA1/BRCA2 (48.2% of mutations), the genes most commonly mutated were CHEK2, ATM and PALB2 (approximately 10% of mutations each). Mutations were also detected in seventeen other genes at lower frequencies.1 The following case illustrates the value of comprehensive panel testing v. single syndrome testing in patients with personal and/or family history of multiple cancers.
Patient A was diagnosed with breast cancer at 45. Her family history was significant for multiple relatives with cancers suggestive of Hereditary Breast and Ovarian Cancer (HBOC) syndrome. Therefore, her physician ordered BRACAnalysis testing, which detected no mutation in BRCA1 or BRCA2.
Meanwhile, in another city, her unaffected sister’s (Patient B’s) physician, noting the significant family history of cancer, ordered the myRisk™ Hereditary Cancer panel. Myriad’s myRisk™ tests for germline mutations in 25 genes, each associated with an increased risk for one or more of eight cancer sites.
Patient B tested positive for a deleterious mutation in CDH1, which increases risks for diffuse gastric cancer as well as lobular breast cancer.
i have finally capitulated. no longer holding a short term target of 42 and longer term target of 52. I have capitulated and now my short term target is 44 and longer term is 60.
May 15, 2015
CMS Lays out Detailed Coverage Criteria for BRCA Testing in Draft LCD
ARTICLE: BREAKING NEWS—in Reimbursement
The agency has described detailed situations under which it will cover BRCA testing and multi-gene panels for assessing risk for hereditary cancer syndromes.
Poster Discussion (Poster 32): Combined Homologous Recombination Deficiency (HRD) Scores and Response to Neoadjuvant Platinum-Based Chemotherapy in Triple Negative and/or BRCA1/2 Mutation-Associated Breast Cancer.
Melinda Telli, M.D. (Stanford University School of Medicine) will present new clinical data that established a homologous recombination (HR) deficiency threshold that can identify 95 percent of patients with mutations in BRCA1/2 and other homologous recombination genes and who have a higher likelihood of responding to treatment with DNA-damaging agents. Specifically, the study validated an HRD threshold score of ≥42 (on a scale of 0-100) using a training cohort of 497 breast and 561 ovarian cancer patients. A myChoice HRD test score ≥42 represents a positive score or a loss of DNA repair function, while a myChoice HRD score
Predicts Response to PARP Inhibitors and Platinum-Based Drugs in Clinical Studies
SALT LAKE CITY, May 29, 2015 ( ) -- Myriad Genetics, Inc. (Nasdaq:MYGN) today announced new clinical studies on its myChoice HRD companion diagnostic test at the 2015 American Society of Clinical Oncology annual meeting being held in Chicago, Ill.
Myriad's myChoice HRD test is the first and only companion diagnostic to measure three modes of homologous recombination deficiency (HRD) including loss of heterozygosity, telomeric allelic imbalance and large-scale state transitions in cancer cells. The myChoice HRD score is a biomarker that indicates the inability of cancer cells to repair DNA damage and reflects a tumor's sensitivity to DNA-damaging medicines such as PARP (poly-ADP ribose polymerase) inhibitors and platinum-based therapies.
Myriad myRisk Finds 60 Percent More Mutations Than BRCA1/2 Testing in Multiple Studies
SALT LAKE CITY, May 29, 2015 ( ) -- Myriad Genetics, Inc. (Nasdaq:MYGN) today announced it will highlight several new clinical studies on its myRisk Hereditary Cancer molecular diagnostic test at the 2015 American Society of Clinical Oncology annual meeting being held in Chicago, Ill.
The myRisk Hereditary Cancer test assesses 25 genes for mutations associated with eight hereditary cancers. Finding deleterious mutations in these genes can help patients with cancer receive appropriate medical care and reduce the risk of second cancers, while patients without cancer can take steps in consultation with their healthcare provider to lower their risk of developing cancer
Myriad Showcases Its Pioneering Research at the 2015 ASCO Annual Meeting
19 Presentations Will Highlight Myriad's Expanding Portfolio of Transformative Diagnostic Tests
GlobeNewswire Myriad Genetics, Inc. May 13, 2015 5:05 PM
in April, Myriad had an important peer-reviewed study published in Community Genetics that highlighted many of the issues associated with utilizing public research databases for clinical applications.
In the study, a team of Myriad scientists analyzed the content of several public databases to compare and contrast calls on the set of 2017 BRCA1 and BRCA2 mutations from 24,650 consecutively tested patient samples received by our laboratory that were representative of a real-world data set.
The databases analyzed included ClinVar, the Breast Cancer Information Core or BIC database, an online open-access breast cancer mutation database maintained by the National Human Genome Research Institute at the National Institutes of Health, the Leiden Open Variation Database, the BRCA1 and the BRCA2 Universal Mutation Database and the Human Gene Mutation Database, HGMD.
We believe there are some important key takeaways from this publication. First, 34% of the mutations we identified were not present in any of the public databases. Additionally, for the databases that allow conflicting classifications, the rate of conflicting classifications range from 4% to 13%. Finally, overall concordance among the public databases was exceptionally low. Of the 116 variants that had a pathogenic classification in at least 1 database, only 3% were classified as pathogenic in all 5 databases. This data supports why physicians and commercial payers continue to value Myriad's experience with varying classification as a key differentiator between tests.
May 05, 2015
With BRCA Share, Quest Hopes to Provide Field With Variant Database to Support Clinical DecisionsPremium
ARTICLE: IN-DEPTH—in Business News
The field needs a database that can help inform variant classifications reported to patients, but Quest finds most publicly available resources aren't robust enough for this purpose.