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March 23, 2017

Invitae Expands Test Menu for Proactive Genetic Testing in Healthy Adults

Research outlining medically actionable approach, patient experiences in pilot program presented at American College of Medical Genetics Annual Clinical Genetics Meeting

SAN FRANCISCO, March 23, 2017 /PRNewswire/ -- Invitae Corporation (NYSE: NVTA), one of the fastest growing genetic information companies, today announced it has expanded the menu of tests offered as part of its ongoing proactive genetic testing pilot program. The announcement was made during the American College of Medical Genetics (ACMG) Annual Clinical Genetics Meeting in Phoenix, where Invitae researchers also presented findings from the company's growing body of experience on the use of proactive testing.

"Interest in using genetic information to make better health decisions is growing among patients and physicians alike. Proactive genetic testing for healthy adults can be done responsibly if it is based on proven research and focuses on actionable, useful results delivered in a clinical context, with physician guidance throughout the process," said Robert Nussbaum, MD, chief medical officer of Invitae. "Genetic information can identify disease risk, impact screening decisions, and may lead to the earlier detection and prevention of disease. Our work with our pilot sites is showing how proactive screening can serve as a useful tool at the primary care level."

The Invitae Genetic Health Screen tests are intended for use by patients who do not meet diagnostic criteria for genetic testing but who wish to use genetic information to help guide their health decisions. The tests can only be ordered by a physician and provide diagnostic-grade genetic analysis from board-certified medical geneticists in a proactive test. The program has been available at select clinical pilot test sites for more than a year, with the addition of further sites underway throughout 2017.

Based on feedback from pilot sites and evaluation of new data, the original menu offered in the program has been expanded to include additional genes linked to cancer, cardiovascular conditions and other genetic disorders. The panel now provides information on 139 medically actionable genes, and the company also offers sub-panels focused only on cardiovascular conditions or cancer to give patients options for gathering genetic information that can inform health decisions, such as increased screenings or treatment choices.

Presentations at the ACMG meeting outlined the research behind choosing the genes going into the panel, as well as data on attitudes and responses among people who participate in proactive testing, as well as the prevalence of actionable variants among otherwise healthy patients. In addition, Invitae researchers presented a case report of a 43-year-old female adoptee who participated in the program because she did not have access to a complete family health history. The limited information she had concerning biological relatives suggested a history of breast cancer, and she was interested in using genetic testing to evaluate her risk of breast and ovarian cancer and other inherited diseases. The results for this individual showed the presence of two pathogenic variants, one each in the BRCA2 and CHEK2 genes, indicating she is at significantly increased risk for cancer. As a result of participation in the proactive testing program, the patient was able to choose to take appropriate screening steps that may have otherwise been missed.

"When a family history is present, one must consider a hereditary disorder caused by pathogenic variants with high penetrance; the inverse, however, is not true. The absence of  family history may reflect small family size, transmission of variants that predispose to breast and ovarian cancer through male relatives, or lack of knowledge about the health of more distant, geographically dispersed relatives, and is therefore not sufficient to rule out the presence of potentially pathogenic variants," said Dr. Nussbaum. "Proactive genetic testing has the potential to uncover increased risk for many patients, allowing them to take a proactive approach to monitoring their health."

The proactive screening research presented by Invitae at ACMG is as follows:

  • Poster #575: Attitudes of Healthy Early Adopters Toward Personal Genome Sequencing: Observations from the PeopleSeq Consortium | Presented by Edward Esplin, MD, PhD, Invitae
  • Poster #726: The Benefit of a Medically Actionable Genetic Screening Panel in Healthy Individuals: A Case Report | Presented by Eden Haverfield, PhD, Invitae
  • Poster #734: Genetic Information for Healthy Individuals: Developing a Medically Actionable Genetic Screening Panel | Presented by Eden Haverfield, PhD, Invitae
  • Poster #797: Potential of Predispositional Genetic Screening for Dominant Actionable Disorders: Prevalence of Genomic Variants in 16,000 Unaffected Individuals | Presented by Edward Esplin, MD, PhD, Invitae

For more information on genetic testing with Invitae, visit

About Invitae
Invitae Corporation's (NYSE: NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Invitae's goal is to aggregate most of the world's genetic tests into a single service with higher quality, faster turnaround time, and lower price than many single-gene and panel tests today. The company currently provides a diagnostic service comprising hundreds of genes for a variety of genetic disorders associated with oncology, cardiology, neurology, pediatrics, and other rare disease areas. Additionally, the company has created a Genome Network to connect patients, clinicians, advocacy organizations, researchers, and drug developers to accelerate the understanding, diagnosis, and treatment of hereditary disease. For more information, visit our website at

Safe Harbor Statements

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the potential benefits of proactive genetic testing; and that the company has additional clinical pilot tests sites underway throughout 2017. 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: risks associated with the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; the company's ability to develop tests to keep pace with rapidly changing technology and new and increasing amounts of scientific data; laws and regulations applicable to the company's business; the company's ability to develop and commercialize new tests and expand into new markets; 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, 2016. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

NOTE: Invitae and the Invitae logo are trademarks of Invitae Corporation. All other trademarks and service marks are the property of their respective owners.

Laura D'Angelo


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SOURCE Invitae Corporation

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