On June 2, 2017 Myriad Genetics, Inc. (NASDAQ:MYGN), a leader in molecular diagnostics and personalized medicine, reported results from Study 005, a large 2,000 patient prospective study of the Myriad myRisk Hereditary Cancer test, which will be featured in three poster presentations at the 53rd annual meeting of the American Society of Clinical Oncology (ASCO) (Free ASCO Whitepaper) (Press release, Myriad Genetics, JUN 2, 2017, View Source [SID1234519349]). Schedule your 30 min Free 1stOncology Demo! The data will be presented by research collaborators from University of Southern California (USC) Norris Comprehensive Cancer Center and Stanford University Cancer Institute. The key findings are that more than 50 percent of the mutations identified were in patients who would not meet current testing guidelines and 34 percent of mutations were identified in unexpected genes, confirming the clinical utility of multi-gene panel testing to improve hereditary cancer-risk assessment.
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"We are very excited to present new data on our myRisk Hereditary Cancer test which shows our ongoing commitment to collaborate with leading academic centers and advance the field of hereditary cancer testing," said Johnathan Lancaster, M.D., Ph.D., chief medical officer, Myriad Genetic Laboratories. "Importantly this study demonstrates that more than half of mutations would be missed with current testing guidelines and 34 percent of mutations identified were unexpected and not predicted by personal and/or family history. This study will provide vital data to facilitate review of medical guidelines in light of advances made in next generation sequencing."
The data are highlighted below and abstracts are available at: abstracts.asco.org.
myRisk Hereditary Cancer Poster Presentations
Title: Performance of Mutation Risk Prediction Models in a Racially Diverse Multi-Gene Panel Testing Cohort.
Presenter: Gregory Idos, M.D., USC Norris Comprehensive Cancer Center.
Date: Monday, June 5, 2017, 1:15 — 4:45 p.m.
Location: Poster 181; Abstract 1523
National Comprehensive Cancer Network (NCCN) guidelines recommend germline genetic testing for patients with a mutation carrier probability (CP) score of five percent or higher. An analysis of data from Study 005 evaluated the percentage of pathogenic mutations in a population of racially diverse patients with a CP score less than five percent. In total 2,000 patients were tested using the myRisk Hereditary Cancer test and 242 were found to have pathogenic mutations. The results showed that more than 50 percent of patients with BRCA1/2 or mismatch repair (MMR) mutations had a CP score less than five percent. Four percent of patients with BRCA1/2 mutations did not meet NCCN guidelines for hereditary breast and ovarian cancer syndrome, and 13 percent of patients with MMR mutations did not meet NCCN criteria for Lynch syndrome testing. Importantly, these findings support lowering the guideline-recommended CP threshold for genetic testing to help ensure that more patients can access genetic testing.
Title: Yield of multiplex panel testing exceeds expert opinion and validated prediction models.
Presenter: Gregory Idos, M.D., USC Norris Comprehensive Cancer Center.
Date: Monday, June 5, 2017, 1:15 — 4:45 p.m.
Location: Poster 183; Abstract 1525.
Data from Study 005 were evaluated to determine the diagnostic yield and clinical utility of panel testing using the myRisk Hereditary Cancer 28-gene test in 2,000 patients undergoing hereditary cancer-risk assessment. Approximately 81 percent of patients were women and 40 percent were Hispanic. Differential diagnoses were generated after standard clinical genetics assessment and before genetic testing. Differences between the differential diagnoses and genetic testing results were evaluated to determine the added diagnostic yield of multi-gene panel testing. The results show that 12.1 percent of patients tested positive for a pathogenic mutation. The most common mutations were in BRCA1 (17 percent) and BRCA2 (15 percent), APC (8 percent), CHEK2 (7 percent) and ATM (7 percent). Importantly, however, 34 percent of the mutations were not clinically suspected before genetic testing, which demonstrates the significant added value of the myRisk Hereditary Cancer test in hereditary cancer-risk assessment.
Title: Yield of multiplex panel testing exceeds expert opinion and validated prediction models.
Presenter: Allison Kurian, M.D., Stanford University Cancer Institute.
Date: Monday, June 5, 2017, 1:15 — 4:45 p.m.
Location: Poster 234; Abstract 1576.
Study 005 also evaluated the safety of gene panel testing among patients who were undergoing cancer-risk assessment with the myRisk Hereditary Cancer test. The analysis of 2,000 patients found that 12.1 percent of patients had pathogenic mutations. Overall, self-reported preventative surgery rates were low (mastectomy 9.2 percent, hysterectomy 1.6 percent, and oophorectomy 1.8 percent). There was no difference in preventative surgery rates between patients with a variant of uncertain significance (VUS) and mutation negative patients (p=0.21). Importantly, most patients never/rarely had thoughts of cancer affecting their daily activities, did not regret genetic testing and wanted to know all the results. Patients with a pathogenic mutation reported higher distress and uncertainty scores than VUS or negative patients, whose distress (p=0.06) and uncertainty (p=0.04) scores were similar. Relatives of mutation positive patients completed genetic testing more often than VUS or negative patients. This study demonstrated that multi-gene panel testing did not result in inappropriate medical management or increased distress/uncertainty among VUS and negative patients.
"The use of multi-gene panels for the clinical assessment of hereditary cancer risk is rapidly increasing in the era of personalized medicine and it’s important that we understand the benefits and risks of genetic testing on patients," said Lancaster. "Study 005 showed that multi-gene panel testing effectively improved hereditary cancer risk assessment and the results did not lead to unwarranted treatment or adverse effects."
About Myriad myRisk Hereditary Cancer
The Myriad myRisk Hereditary Cancer test uses an extensive number of sophisticated technologies and proprietary algorithms to evaluate 28 clinically significant genes associated with eight hereditary cancer sites including: breast, colon, ovarian, endometrial, pancreatic, prostate and gastric cancers and melanoma. The myRisk Hereditary Cancer test offers physicians several distinct advantages over other commercial tests, including:
Unsurpassed lab accuracy:
85,000 base pairs with ~100 percent accuracy.
856 steps using 23 major technology platforms.
100 proprietary software applications.
Industry leading variant classification:
More than 20 years of investment in research.
>2.5 million patients tested; 50,000 variants identified.
Five proprietary methods with 99.5 percent validity.
Exceptional customer service:
More than 40,000 ordering physicians annually.
450 field educators.
Extensive reimbursement support.
Lifetime commitment to patients.