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April 02, 2019

Research Underscores Need for Updated Guidelines to Include Multigene Testing for Cancer Patients

- Data presented at The American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting -

SAN FRANCISCO, April 2, 2019 /PRNewswire/ -- Researchers from Invitae (NYSE: NVTA), a leading genetics company, will present data from more than 113,000 patients that support updating genetic testing guidelines to include clear recommendations for multigene panel testing in patients with cancer. According to the study, patients with ovarian, breast, pancreatic, prostate and colorectal cancer with potentially actionable germline variants are being missed each year when clinicians adhere to guidelines that restrict testing to one or a few gene panels.

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 study is among the company's data presented this week at the 2019 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting in Seattle.

"Genetic test panels that include just a few of the clinically important genes provide incomplete genetic information for patients and their clinicians, both in terms of informing treatment choices and identifying additional health risks," said Robert Nussbaum, M.D., chief medical officer of Invitae and one of the authors of the study. "Recommendations to test small numbers of genes in cancer patients date to a time when testing was much more expensive, multigene panels were not widely available, cancer risks resulting from pathogenic changes in genes other than BRCA1 or BRCA2 were not well described, and cost was prohibitive. Today, comprehensive multi-gene panels are affordable, widely available and clinically actionable. These tests can identify variants in genes for which management guidelines are available to guide treatment for these patients. Multigene testing can also uncover valuable information for a patient's family, allowing for increased screening among those at risk that can potentially help prevent additional cancers."

Researchers from the company compared diagnostic yield and clinical actionability in 113,107 patients with a personal history of cancer who were tested using a comprehensive multigene panel versus use of limited gene panels strategy. The data demonstrate that comprehensive panel testing in patients with a broad range of cancers yields actionable results for an additional 9,737 patients per 113,107 patients tested. By having genetic information, patients may have additional management options, such as FDA-approved interventions, eligibility for clinical trials, screening and prophylaxis based on germline status, as well as the opportunity for cascade family variant testing for family members who may be at increased risk.

Invitae's additional research presentations at ACMG includes four platform presentations, two top-rated posters and three additional posters. These studies reflect the breadth and impact of innovation at Invitae, ranging from sophisticated improvements in laboratory methods to novel clinical utility studies that have the potential to change the practice of medicine.

Platform Presentations

  • Platform presentation 14: Analysis of Mosaicism for Sequence and Copy Number Variants in a Broad Diversity of Hereditary Disorders in a Large Clinical Cohort. Rebecca Truty, PhD. Wednesday 4/3 4:15-4:30pm
  • Platform presentation 16: A Rigorous Examination of the Need for Sanger Confirmation in Clinical Genetic Testing. Stephen Lincoln. Wednesday 4/3 4:45-5:00pm
  • Platform Presentation 27: Limitations of HBOC Direct-To-Consumer Genetic Screening: False Positives, False Negatives and Everything in Between. Ed Esplin, MD, PhD, FACMG, FACP. Thursday 4/4 8:30-8:45am
  • Platform Presentation 45: Comprehensive Multigene Panels in Cancer Patients: Increased Diagnostic Yield and Clinical Utility. Ed Esplin, MD, PhD. Friday 4/5. 5-5:15pm

Poster Presentations

  • Poster 662: Top Rated Poster. Expanding Spinal Muscular Atrophy Diagnosis Through Multi-Gene Panel Testing. Christopher Tan, MS, LCGC. Friday 4/5 10:30-12pm &*Rapid Fire Poster Session* Thursday 4/4 11:15-11:45am
  • Poster 701: The common variant rs1805128 in the KCNE1 gene is an independent risk allele for cardiac arrhythmias. Matteo Vatta, PhD, FACMG. Thursday 4/4, 10-11:30am
  • Poster 702: Harmonizing clinical interpretation of intragenic sequence and copy number variants in monogenic disease. Yuya Kobayashi, PhD. Friday 4/5 10:30-12pm
  • Poster 757. Show Me The Phenotype: The Ordering Clinician's Role in Genetic Variant Interpretation for Primary Immunodeficiency Diseases. Britt Johnson, PhD, FACMG. Thursday 4/4. 10-11:30am
  • Poster 950. Top Rated Poster. Cascade Testing Barriers: Impact of a No-Additional Cost Family Variant Testing Program on Uptake of Hereditary Cancer Risk Assessment. Rachel Miller, MS, LCGC. Friday 4/5 10:30-12pm

About Invitae
Invitae Corporation (NYSE: NVTA) is a leading 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 supporting the need for updated genetic testing guidelines to include multigene testing for cancer patients; the benefits of multigene testing and access to genetic information; and the breadth 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 Annual Report on Form 10-K for the year ended December 31, 2018. 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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