Research from Invitae Demonstrates the Importance of Germline Multigene Panel Testing in Guiding Therapy for Expanding Groups of Cancer Patients

SAN FRANCISCO, May 31, 2019 /PRNewswire/ — Researchers from Invitae (NYSE: NVTA), a leading medical genetics company, will present data that underscore the clinical utility of comprehensive genetic information for patients with breast, colorectal, prostate and pancreatic cancer to inform treatment decisions. Among the data, researchers will discuss findings showing that multigene germline genetic testing for breast cancer patients impacts patient outcomes and informs surgical strategy, precision medicine treatment and clinical trial eligibility.

Invitae's (NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. (PRNewsFoto/Invitae Corporation)

The studies will be presented at the American Society for Clinical Oncology (ASCO) Annual Meeting in Chicago, which starts today.

A study of breast cancer patients conducted with researchers from the TME Breast Care Network, a network of more than 300 leading breast cancer physicians, evaluated germline genetic testing for 912 breast cancer patients, approximately half of whom met widely accepted clinical guidelines for testing and half of whom did not. Pathogenic/likely pathogenic (P/LP) germline variants were found in 8.65% of patients (9.39% of patients who met guidelines and 7.9% of patients who did not meet guidelines, a statistically insignificant difference). Among patients with P/LP germline variants, 85% had variants in cancer-risk genes with established management recommendations and 80% had variants that made them eligible for clinical trials and/or precision medicine-based cancer treatments, such as PARP inhibitors. In 62% of patients with P/LP germline mutations, their clinicians reported the findings impacted their patients’ outcomes.

“This research adds to the body of evidence validating the importance of comprehensive germline genetic testing in cancer for identifying precision medicine therapies and clinical trials that can improve patient outcomes,” said Robert Nussbaum, M.D., chief medical officer of Invitae. “Previous research has shown that current testing guidelines are insensitive and deny too many patients with clinically meaningful genetic variants from being tested. Broad use of multigene genetic testing for cancer patients has the potential to meaningfully improve cancer care for patients across a wide variety of cancers.”

Another study presented at the meeting examined testing in colorectal cancer using multigene panels, and suggests one in five patients referred for genetic testing have clinically actionable germline variants, nearly half of which remain undetected when only a narrowly defined panel of the five mismatch repair genes are tested. Furthermore, some of these variants were in genes associated with known precision therapeutic implications or clinical trial eligibility, as well as established clinical management guidelines.

Germline testing was performed on 9,000 patients with colorectal cancer and clinically significant variants were identified in 21% (2,101) of patients. When only a limited genetic panel was used, 9% of patients had a pathogenic finding, which increased to 15% when 19 guidelines-based colorectal cancer genes were assessed. Using a comprehensive multigene panel, P/LP variants in genes with known precision therapy implications were detected in 14% (1,408) of patients, and 17% (1,670) had P/LP variants associated with established clinical management guidelines. These data add to the evidence supporting the value of comprehensive germline genetic testing for colorectal cancer patients to identify candidates for precision medical treatments and provide clinical guidance to at-risk family members.

Invitae has also collaborated with numerous clinicians and scientists outside of the company to carry out additional research being presented at ASCO that highlight the depth and impact of innovation at Invitae. The research presentations further underscore our commitment to advancing understanding of the importance of germline genetic testing in oncology and showing its clinical utility in improving patient care.

Poster Presentations

  • Poster 1528: Germline variants in urothelial carcinoma: Analysis of pathogenic and likely pathogenic variants in 645 subjects. Sarah Abou Alaiwi, MD, Dana-Farber Cancer Institute. Cancer Prevention, Hereditary Genetics, and Epidemiology Session: Monday 6/3, 1:15 PM to 4:15 PM
  • Poster 1580: Tumor sequencing with germline genetic testing: Identification of patients with hereditary cancer and precision treatment eligibility. Scott T. Michalski, MS, LCGC, Invitae. Cancer Prevention, Hereditary Genetics, and Epidemiology Session: Monday 6/3, 1:15 PM to 4:15 PM
  • Poster 1583: Comprehensive germline multigene panel testing changes clinical care for patients with breast cancer: Untapped clinical utility and PARP inhibitor trial eligibility. Peter D. Beitsch, MD, FACS, Dallas Surgical Group. Cancer Prevention, Hereditary Genetics, and Epidemiology Session: Monday 6/3, 1:15 PM to 4:15 PM
  • Poster 3582: Germline multigene panel testing in colorectal cancer: Precision therapy and clinical management implications. Edward D. Esplin, MD, PhD, FACMG, FACP, Invitae. Gastrointestinal (Colorectal) Cancer Session: Monday 6/3, 8:00 AM to 11:00 AM
  • Poster 5062: Prevalence of pathogenic germline variants in DNA repair by race, age, and ethnicity in men with prostate cancer. Alexandria Mara, MD, Duke University School of Medicine. Genitourinary (Prostate) Cancer Session: Saturday 6/1, 1:15 PM to 4:15 PM
  • Poster e13013: Comprehensive germline panel testing across cancer types: Diagnostic yield and clinical utility in 100,000 patient dataset. Shan Yang, PhD, Invitae
  • Poster e15728: The prevalence of hereditary pancreatitis mutations in families with pancreatic cancer. Rino S. Seedor, MD, Fox Chase Cancer Center

About Invitae
Invitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae’s goal is to aggregate the world’s genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company’s website at

Safe Harbor Statement
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the company’s research validating the importance of comprehensive germline genetic testing in expanding groups of cancer patients for identifying precision medicine therapies and clinical trials that can improve patient outcomes; and the depth and impact of innovation at the company. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to:  the company’s history of losses; the company’s ability to compete; the company’s failure to manage growth effectively; the company’s need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company’s ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company’s business; and the other risks set forth in the company’s filings with the Securities and Exchange Commission, including the risks set forth in the company’s Quarterly Report on Form 10-Q for the quarter ended March 31, 2019. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Laura D’Angelo
(628) 213-3283

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